Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Phenotypic abnormality (HP:0000118)

Parent Node:
Neoplasm (HP:0002664)

..Starting node
..Neoplasm by histology (HP:0011792)

Term ID:

11792

Name:

Neoplasm by histology

Synonym:

Definition:

Neoplasm categorized according to type of histological abnormality.

Comments:

Reference:

HP:0011792

Genes and Diseases:

Child Nodes:

........

Melanoma (HP:0002861)

................... HP:0007716 Intraocular melanoma
................... HP:0012056 Cutaneous melanoma

........

Embryonal neoplasm (HP:0002898)

................... HP:0002884 Hepatoblastoma
................... HP:0006743 Embryonal rhabdomyosarcoma
................... HP:0009792 Teratoma
................... HP:0009919 Retinoblastoma
................... HP:0011794 Embryonal renal neoplasm

........

Hamartoma (HP:0010566)

................... HP:0001054 Numerous nevi
................... HP:0004390 Hamartomatous polyposis
................... HP:0008696 Renal hamartoma
................... HP:0009731 Cerebral hamartomata
................... HP:0010568 Hamartoma of the eye
................... HP:0011068 Odontoma
................... HP:0031111 Cutaneous hamartoma
................... HP:0100764 Lymphangioma
................... HP:0100882 Fibrous hamartoma
................... HP:0100883 Chorangioma

........

Fibrous tissue neoplasm (HP:0012316)

................... HP:0010614 Fibroma
................... HP:0012315 Histiocytoma
................... HP:0025197 Inclusion body fibromatosis

........

Nervous tissue neoplasm (HP:0030060)

................... HP:0030061 Neuroectodermal neoplasm

........

Epithelial neoplasm (HP:0031492)

................... HP:0030731 Carcinoma
................... HP:0031493 Glandular cell neoplasm

........

Sarcoma (HP:0100242)

................... HP:0002669 Osteosarcoma
................... HP:0006765 Chondrosarcoma
................... HP:0008663 Renal sarcoma
................... HP:0012254 Ewing's sarcoma
................... HP:0030448 Soft tissue sarcoma

Sister Nodes:

Neoplasm by anatomical site (HP:0011793)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011792	HP:0011792	Neoplasm by histology	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1			7
HP:0011792	HP:0011792	Neoplasm by histology	0	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0011792	HP:0011792	Neoplasm by histology	0	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma			11
HP:0011792	HP:0011792	Neoplasm by histology	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome			72
HP:0011792	HP:0011792	Neoplasm by histology	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0011792	HP:0011792	Neoplasm by histology	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011792	HP:0011792	Neoplasm by histology	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer			54
HP:0011792	HP:0011792	Neoplasm by histology	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011792	HP:0011792	Neoplasm by histology	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011792	HP:0011792	Neoplasm by histology	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0011792	HP:0011792	Neoplasm by histology	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011792	HP:0011792	Neoplasm by histology	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0011792	HP:0011792	Neoplasm by histology	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0011792	HP:0011792	Neoplasm by histology	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011792	HP:0011792	Neoplasm by histology	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0011792	HP:0011792	Neoplasm by histology	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0011792	HP:0011792	Neoplasm by histology	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0011792	Neoplasm by histology	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0011792	Neoplasm by histology	0	APC CL E G H	324	583	OMIM:114500	Colorectal cancer			3179
HP:0011792	HP:0011792	Neoplasm by histology	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary			3179
HP:0011792	HP:0011792	Neoplasm by histology	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0011792	HP:0011792	Neoplasm by histology	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011792	HP:0011792	Neoplasm by histology	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0011792	Neoplasm by histology	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0011792	Neoplasm by histology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011792	HP:0011792	Neoplasm by histology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011792	HP:0011792	Neoplasm by histology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011792	HP:0011792	Neoplasm by histology	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0011792	HP:0011792	Neoplasm by histology	0	ASPSCR1 CL E G H	79058	13825	OMIM:606243	Alveolar soft part sarcoma
HP:0011792	HP:0011792	Neoplasm by histology	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011792	HP:0011792	Neoplasm by histology	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011792	HP:0011792	Neoplasm by histology	0	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0011792	Neoplasm by histology	0	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer			435
HP:0011792	HP:0011792	Neoplasm by histology	0	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma			184
HP:0011792	HP:0011792	Neoplasm by histology	0	BAP1 CL E G H	8314	950	OMIM:606661	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2			184
HP:0011792	HP:0011792	Neoplasm by histology	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0011792	HP:0011792	Neoplasm by histology	0	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome			184
HP:0011792	HP:0011792	Neoplasm by histology	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0011792	HP:0011792	Neoplasm by histology	0	BARD1 CL E G H	580	952	ORPHA:145	Hereditary breast and ovarian cancer syndrome			790
HP:0011792	HP:0011792	Neoplasm by histology	0	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer			4
HP:0011792	HP:0011792	Neoplasm by histology	0	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic			18
HP:0011792	HP:0011792	Neoplasm by histology	0	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome			5
HP:0011792	HP:0011792	Neoplasm by histology	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011792	HP:0011792	Neoplasm by histology	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0011792	HP:0011792	Neoplasm by histology	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0011792	HP:0011792	Neoplasm by histology	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0011792	HP:0011792	Neoplasm by histology	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0011792	HP:0011792	Neoplasm by histology	0	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2			385
HP:0011792	HP:0011792	Neoplasm by histology	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type			90
HP:0011792	HP:0011792	Neoplasm by histology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011792	HP:0011792	Neoplasm by histology	0	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer			276
HP:0011792	HP:0011792	Neoplasm by histology	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011792	HP:0011792	Neoplasm by histology	0	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant			276
HP:0011792	HP:0011792	Neoplasm by histology	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011792	HP:0011792	Neoplasm by histology	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011792	HP:0011792	Neoplasm by histology	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011792	HP:0011792	Neoplasm by histology	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0011792	HP:0011792	Neoplasm by histology	0	BRCA1 CL E G H	672	1100	ORPHA:145	Hereditary breast and ovarian cancer syndrome			5769
HP:0011792	HP:0011792	Neoplasm by histology	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0011792	HP:0011792	Neoplasm by histology	0	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3			7642
HP:0011792	HP:0011792	Neoplasm by histology	0	BRCA2 CL E G H	675	1101	ORPHA:145	Hereditary breast and ovarian cancer syndrome			7642
HP:0011792	HP:0011792	Neoplasm by histology	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0011792	HP:0011792	Neoplasm by histology	0	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1			7642
HP:0011792	HP:0011792	Neoplasm by histology	0	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0011792	Neoplasm by histology	0	BRIP1 CL E G H	83990	20473	ORPHA:145	Hereditary breast and ovarian cancer syndrome			1086
HP:0011792	HP:0011792	Neoplasm by histology	0	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer			5
HP:0011792	HP:0011792	Neoplasm by histology	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011792	HP:0011792	Neoplasm by histology	0	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer			76
HP:0011792	HP:0011792	Neoplasm by histology	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011792	HP:0011792	Neoplasm by histology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011792	HP:0011792	Neoplasm by histology	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0011792	HP:0011792	Neoplasm by histology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011792	HP:0011792	Neoplasm by histology	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011792	HP:0011792	Neoplasm by histology	0	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0011792	Neoplasm by histology	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0011792	HP:0011792	Neoplasm by histology	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2			169
HP:0011792	HP:0011792	Neoplasm by histology	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0011792	HP:0011792	Neoplasm by histology	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0011792	HP:0011792	Neoplasm by histology	0	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma			145
HP:0011792	HP:0011792	Neoplasm by histology	0	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3			145
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV			102
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma			289
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN2A CL E G H	1029	1787	OMIM:155601	Melanoma, cutaneous malignant, susceptibility to, 2			289
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome			289
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome			289
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma			1
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0011792	Neoplasm by histology	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0011792	Neoplasm by histology	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011792	HP:0011792	Neoplasm by histology	0	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer			833
HP:0011792	HP:0011792	Neoplasm by histology	0	CHEK2 CL E G H	11200	16627	ORPHA:145	Hereditary breast and ovarian cancer syndrome			833
HP:0011792	HP:0011792	Neoplasm by histology	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0011792	HP:0011792	Neoplasm by histology	0	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2			833
HP:0011792	HP:0011792	Neoplasm by histology	0	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma			833
HP:0011792	HP:0011792	Neoplasm by histology	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1			2
HP:0011792	HP:0011792	Neoplasm by histology	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0011792	HP:0011792	Neoplasm by histology	0	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans			373
HP:0011792	HP:0011792	Neoplasm by histology	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0011792	HP:0011792	Neoplasm by histology	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0011792	HP:0011792	Neoplasm by histology	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011792	HP:0011792	Neoplasm by histology	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011792	HP:0011792	Neoplasm by histology	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0011792	HP:0011792	Neoplasm by histology	0	CREB1 CL E G H	1385	2345	OMIM:612160	HISTIOCYTOMA, ANGIOMATOID FIBROUS			1
HP:0011792	HP:0011792	Neoplasm by histology	0	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer			88
HP:0011792	HP:0011792	Neoplasm by histology	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0011792	HP:0011792	Neoplasm by histology	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011792	HP:0011792	Neoplasm by histology	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0011792	HP:0011792	Neoplasm by histology	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0011792	HP:0011792	Neoplasm by histology	0	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer			36
HP:0011792	HP:0011792	Neoplasm by histology	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0011792	HP:0011792	Neoplasm by histology	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E			30
HP:0011792	HP:0011792	Neoplasm by histology	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0011792	HP:0011792	Neoplasm by histology	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011792	HP:0011792	Neoplasm by histology	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011792	HP:0011792	Neoplasm by histology	0	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor			670
HP:0011792	HP:0011792	Neoplasm by histology	0	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB			670
HP:0011792	HP:0011792	Neoplasm by histology	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2			670
HP:0011792	HP:0011792	Neoplasm by histology	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0011792	HP:0011792	Neoplasm by histology	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0011792	HP:0011792	Neoplasm by histology	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0011792	HP:0011792	Neoplasm by histology	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011792	HP:0011792	Neoplasm by histology	0	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer			11
HP:0011792	HP:0011792	Neoplasm by histology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011792	HP:0011792	Neoplasm by histology	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0011792	Neoplasm by histology	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011792	HP:0011792	Neoplasm by histology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0011792	HP:0011792	Neoplasm by histology	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0011792	HP:0011792	Neoplasm by histology	0	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome			67
HP:0011792	HP:0011792	Neoplasm by histology	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011792	HP:0011792	Neoplasm by histology	0	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer			250
HP:0011792	HP:0011792	Neoplasm by histology	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0011792	HP:0011792	Neoplasm by histology	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease			3
HP:0011792	HP:0011792	Neoplasm by histology	0	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1			77
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0011792	HP:0011792	Neoplasm by histology	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0011792	HP:0011792	Neoplasm by histology	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0011792	HP:0011792	Neoplasm by histology	0	EWSR1 CL E G H	2130	3508	OMIM:612219	Ewing sarcoma
HP:0011792	HP:0011792	Neoplasm by histology	0	EXT1 CL E G H	2131	3512	OMIM:215300	Chondrosarcoma			96
HP:0011792	HP:0011792	Neoplasm by histology	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I			96
HP:0011792	HP:0011792	Neoplasm by histology	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0011792	HP:0011792	Neoplasm by histology	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II			102
HP:0011792	HP:0011792	Neoplasm by histology	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0011792	HP:0011792	Neoplasm by histology	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0011792	HP:0011792	Neoplasm by histology	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011792	HP:0011792	Neoplasm by histology	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0011792	HP:0011792	Neoplasm by histology	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0011792	HP:0011792	Neoplasm by histology	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0011792	HP:0011792	Neoplasm by histology	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0011792	HP:0011792	Neoplasm by histology	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0011792	HP:0011792	Neoplasm by histology	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011792	HP:0011792	Neoplasm by histology	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0011792	HP:0011792	Neoplasm by histology	0	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer			145
HP:0011792	HP:0011792	Neoplasm by histology	0	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic			145
HP:0011792	HP:0011792	Neoplasm by histology	0	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic			145
HP:0011792	HP:0011792	Neoplasm by histology	0	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer			301
HP:0011792	HP:0011792	Neoplasm by histology	0	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer			301
HP:0011792	HP:0011792	Neoplasm by histology	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0011792	HP:0011792	Neoplasm by histology	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0011792	HP:0011792	Neoplasm by histology	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0011792	HP:0011792	Neoplasm by histology	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011792	HP:0011792	Neoplasm by histology	0	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer			332
HP:0011792	HP:0011792	Neoplasm by histology	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0011792	HP:0011792	Neoplasm by histology	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0011792	HP:0011792	Neoplasm by histology	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011792	HP:0011792	Neoplasm by histology	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0011792	HP:0011792	Neoplasm by histology	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0011792	HP:0011792	Neoplasm by histology	0	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar			1
HP:0011792	HP:0011792	Neoplasm by histology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011792	HP:0011792	Neoplasm by histology	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011792	HP:0011792	Neoplasm by histology	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011792	HP:0011792	Neoplasm by histology	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0011792	HP:0011792	Neoplasm by histology	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type			52
HP:0011792	HP:0011792	Neoplasm by histology	0	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome			59
HP:0011792	HP:0011792	Neoplasm by histology	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0011792	HP:0011792	Neoplasm by histology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0011792	HP:0011792	Neoplasm by histology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0011792	HP:0011792	Neoplasm by histology	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0011792	HP:0011792	Neoplasm by histology	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0011792	HP:0011792	Neoplasm by histology	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia			101
HP:0011792	HP:0011792	Neoplasm by histology	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0011792	HP:0011792	Neoplasm by histology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011792	HP:0011792	Neoplasm by histology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011792	HP:0011792	Neoplasm by histology	0	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1			73
HP:0011792	HP:0011792	Neoplasm by histology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011792	HP:0011792	Neoplasm by histology	0	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1
HP:0011792	HP:0011792	Neoplasm by histology	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0011792	HP:0011792	Neoplasm by histology	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0011792	HP:0011792	Neoplasm by histology	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0011792	HP:0011792	Neoplasm by histology	0	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1			4
HP:0011792	HP:0011792	Neoplasm by histology	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1
HP:0011792	HP:0011792	Neoplasm by histology	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011792	HP:0011792	Neoplasm by histology	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011792	HP:0011792	Neoplasm by histology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011792	HP:0011792	Neoplasm by histology	0	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic			113
HP:0011792	HP:0011792	Neoplasm by histology	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011792	HP:0011792	Neoplasm by histology	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital			113
HP:0011792	HP:0011792	Neoplasm by histology	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011792	HP:0011792	Neoplasm by histology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011792	HP:0011792	Neoplasm by histology	0	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1			15
HP:0011792	HP:0011792	Neoplasm by histology	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0011792	HP:0011792	Neoplasm by histology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011792	HP:0011792	Neoplasm by histology	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease			15
HP:0011792	HP:0011792	Neoplasm by histology	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0011792	HP:0011792	Neoplasm by histology	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease			29
HP:0011792	HP:0011792	Neoplasm by histology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0011792	Neoplasm by histology	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0011792	Neoplasm by histology	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0011792	HP:0011792	Neoplasm by histology	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0011792	HP:0011792	Neoplasm by histology	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0011792	HP:0011792	Neoplasm by histology	0	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1			9
HP:0011792	HP:0011792	Neoplasm by histology	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011792	HP:0011792	Neoplasm by histology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011792	HP:0011792	Neoplasm by histology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011792	HP:0011792	Neoplasm by histology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011792	HP:0011792	Neoplasm by histology	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011792	HP:0011792	Neoplasm by histology	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011792	HP:0011792	Neoplasm by histology	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0011792	HP:0011792	Neoplasm by histology	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0011792	HP:0011792	Neoplasm by histology	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011792	HP:0011792	Neoplasm by histology	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0011792	HP:0011792	Neoplasm by histology	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0011792	HP:0011792	Neoplasm by histology	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0011792	HP:0011792	Neoplasm by histology	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0011792	HP:0011792	Neoplasm by histology	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor			327
HP:0011792	HP:0011792	Neoplasm by histology	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor			327
HP:0011792	HP:0011792	Neoplasm by histology	0	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic			327
HP:0011792	HP:0011792	Neoplasm by histology	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4			1
HP:0011792	HP:0011792	Neoplasm by histology	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0011792	HP:0011792	Neoplasm by histology	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011792	HP:0011792	Neoplasm by histology	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0011792	HP:0011792	Neoplasm by histology	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			100
HP:0011792	HP:0011792	Neoplasm by histology	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			45
HP:0011792	HP:0011792	Neoplasm by histology	0	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0011792	HP:0011792	Neoplasm by histology	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011792	HP:0011792	Neoplasm by histology	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011792	HP:0011792	Neoplasm by histology	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0011792	HP:0011792	Neoplasm by histology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011792	HP:0011792	Neoplasm by histology	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011792	HP:0011792	Neoplasm by histology	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011792	HP:0011792	Neoplasm by histology	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011792	HP:0011792	Neoplasm by histology	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0011792	HP:0011792	Neoplasm by histology	0	MBD4 CL E G H	8930	6919	OMIM:619975				1
HP:0011792	HP:0011792	Neoplasm by histology	0	MBD4 CL E G H	8930	6919	OMIM:606660	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1			1
HP:0011792	HP:0011792	Neoplasm by histology	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0011792	HP:0011792	Neoplasm by histology	0	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma			124
HP:0011792	HP:0011792	Neoplasm by histology	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011792	HP:0011792	Neoplasm by histology	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011792	HP:0011792	Neoplasm by histology	0	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer			6
HP:0011792	HP:0011792	Neoplasm by histology	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0011792	HP:0011792	Neoplasm by histology	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011792	HP:0011792	Neoplasm by histology	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011792	HP:0011792	Neoplasm by histology	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0011792	Neoplasm by histology	0	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma			3
HP:0011792	HP:0011792	Neoplasm by histology	0	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma			91
HP:0011792	HP:0011792	Neoplasm by histology	0	MITF CL E G H	4286	7105	OMIM:614456	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8			91
HP:0011792	HP:0011792	Neoplasm by histology	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0011792	HP:0011792	Neoplasm by histology	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0011792	Neoplasm by histology	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0011792	HP:0011792	Neoplasm by histology	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011792	HP:0011792	Neoplasm by histology	0	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer			131
HP:0011792	HP:0011792	Neoplasm by histology	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0011792	HP:0011792	Neoplasm by histology	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011792	HP:0011792	Neoplasm by histology	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome			17
HP:0011792	HP:0011792	Neoplasm by histology	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome			17
HP:0011792	HP:0011792	Neoplasm by histology	0	MRE11 CL E G H	4361	7230	ORPHA:145	Hereditary breast and ovarian cancer syndrome			532
HP:0011792	HP:0011792	Neoplasm by histology	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0011792	HP:0011792	Neoplasm by histology	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011792	HP:0011792	Neoplasm by histology	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011792	HP:0011792	Neoplasm by histology	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0011792	HP:0011792	Neoplasm by histology	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4			5
HP:0011792	HP:0011792	Neoplasm by histology	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0011792	Neoplasm by histology	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0011792	HP:0011792	Neoplasm by histology	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0011792	Neoplasm by histology	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0011792	HP:0011792	Neoplasm by histology	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0011792	HP:0011792	Neoplasm by histology	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0011792	HP:0011792	Neoplasm by histology	0	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	NBN CL E G H	4683	7652	ORPHA:145	Hereditary breast and ovarian cancer syndrome			706
HP:0011792	HP:0011792	Neoplasm by histology	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011792	HP:0011792	Neoplasm by histology	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011792	HP:0011792	Neoplasm by histology	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome			9
HP:0011792	HP:0011792	Neoplasm by histology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0011792	Neoplasm by histology	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0011792	HP:0011792	Neoplasm by histology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0011792	Neoplasm by histology	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0011792	Neoplasm by histology	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0011792	Neoplasm by histology	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0011792	Neoplasm by histology	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011792	HP:0011792	Neoplasm by histology	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0011792	HP:0011792	Neoplasm by histology	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011792	HP:0011792	Neoplasm by histology	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0011792	Neoplasm by histology	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing			37
HP:0011792	HP:0011792	Neoplasm by histology	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0011792	HP:0011792	Neoplasm by histology	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011792	HP:0011792	Neoplasm by histology	0	NR4A3 CL E G H	8013	7982	OMIM:612237	Chondrosarcoma, extraskeletal myxoid
HP:0011792	HP:0011792	Neoplasm by histology	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011792	HP:0011792	Neoplasm by histology	0	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer			102
HP:0011792	HP:0011792	Neoplasm by histology	0	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic			102
HP:0011792	HP:0011792	Neoplasm by histology	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011792	HP:0011792	Neoplasm by histology	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011792	HP:0011792	Neoplasm by histology	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital			102
HP:0011792	HP:0011792	Neoplasm by histology	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic			102
HP:0011792	HP:0011792	Neoplasm by histology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011792	HP:0011792	Neoplasm by histology	0	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0011792	Neoplasm by histology	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011792	HP:0011792	Neoplasm by histology	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011792	HP:0011792	Neoplasm by histology	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0011792	HP:0011792	Neoplasm by histology	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0011792	HP:0011792	Neoplasm by histology	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011792	HP:0011792	Neoplasm by histology	0	PALB2 CL E G H	79728	26144	ORPHA:145	Hereditary breast and ovarian cancer syndrome			1349
HP:0011792	HP:0011792	Neoplasm by histology	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0011792	HP:0011792	Neoplasm by histology	0	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar			59
HP:0011792	HP:0011792	Neoplasm by histology	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0011792	HP:0011792	Neoplasm by histology	0	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar
HP:0011792	HP:0011792	Neoplasm by histology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0011792	Neoplasm by histology	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011792	HP:0011792	Neoplasm by histology	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0011792	HP:0011792	Neoplasm by histology	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011792	HP:0011792	Neoplasm by histology	0	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans			9
HP:0011792	HP:0011792	Neoplasm by histology	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0011792	HP:0011792	Neoplasm by histology	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor			337
HP:0011792	HP:0011792	Neoplasm by histology	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0011792	HP:0011792	Neoplasm by histology	0	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1			28
HP:0011792	HP:0011792	Neoplasm by histology	0	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer			2
HP:0011792	HP:0011792	Neoplasm by histology	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0011792	HP:0011792	Neoplasm by histology	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0011792	HP:0011792	Neoplasm by histology	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0011792	HP:0011792	Neoplasm by histology	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0011792	HP:0011792	Neoplasm by histology	0	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome			86
HP:0011792	HP:0011792	Neoplasm by histology	0	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2			86
HP:0011792	HP:0011792	Neoplasm by histology	0	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome			86
HP:0011792	HP:0011792	Neoplasm by histology	0	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer			162
HP:0011792	HP:0011792	Neoplasm by histology	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0011792	HP:0011792	Neoplasm by histology	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011792	HP:0011792	Neoplasm by histology	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0011792	HP:0011792	Neoplasm by histology	0	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic			162
HP:0011792	HP:0011792	Neoplasm by histology	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0011792	HP:0011792	Neoplasm by histology	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0011792	HP:0011792	Neoplasm by histology	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0011792	HP:0011792	Neoplasm by histology	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0011792	HP:0011792	Neoplasm by histology	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0011792	HP:0011792	Neoplasm by histology	0	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0011792	Neoplasm by histology	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011792	HP:0011792	Neoplasm by histology	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0011792	HP:0011792	Neoplasm by histology	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0011792	HP:0011792	Neoplasm by histology	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011792	HP:0011792	Neoplasm by histology	0	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10			731
HP:0011792	HP:0011792	Neoplasm by histology	0	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12			1129
HP:0011792	HP:0011792	Neoplasm by histology	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant			155
HP:0011792	HP:0011792	Neoplasm by histology	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type			155
HP:0011792	HP:0011792	Neoplasm by histology	0	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma			23
HP:0011792	HP:0011792	Neoplasm by histology	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9			23
HP:0011792	HP:0011792	Neoplasm by histology	0	POT1 CL E G H	25913	17284	OMIM:615848	Melanoma, cutaneous malignant, susceptibility to, 10			23
HP:0011792	HP:0011792	Neoplasm by histology	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0011792	HP:0011792	Neoplasm by histology	0	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5			2
HP:0011792	HP:0011792	Neoplasm by histology	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011792	HP:0011792	Neoplasm by histology	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011792	HP:0011792	Neoplasm by histology	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0011792	Neoplasm by histology	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011792	HP:0011792	Neoplasm by histology	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0011792	HP:0011792	Neoplasm by histology	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0011792	HP:0011792	Neoplasm by histology	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0011792	Neoplasm by histology	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011792	HP:0011792	Neoplasm by histology	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0011792	Neoplasm by histology	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0011792	HP:0011792	Neoplasm by histology	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011792	HP:0011792	Neoplasm by histology	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011792	HP:0011792	Neoplasm by histology	0	PTEN CL E G H	5728	9588	ORPHA:145	Hereditary breast and ovarian cancer syndrome			948
HP:0011792	HP:0011792	Neoplasm by histology	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0011792	HP:0011792	Neoplasm by histology	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011792	HP:0011792	Neoplasm by histology	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011792	HP:0011792	Neoplasm by histology	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome			948
HP:0011792	HP:0011792	Neoplasm by histology	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease			58
HP:0011792	HP:0011792	Neoplasm by histology	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011792	HP:0011792	Neoplasm by histology	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011792	HP:0011792	Neoplasm by histology	0	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0011792	Neoplasm by histology	0	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer			3
HP:0011792	HP:0011792	Neoplasm by histology	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0011792	HP:0011792	Neoplasm by histology	0	RABL3 CL E G H	285282	18072	OMIM:618680	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0011792	HP:0011792	Neoplasm by histology	0	RAD50 CL E G H	10111	9816	ORPHA:145	Hereditary breast and ovarian cancer syndrome			789
HP:0011792	HP:0011792	Neoplasm by histology	0	RAD51 CL E G H	5888	9817	ORPHA:145	Hereditary breast and ovarian cancer syndrome			9
HP:0011792	HP:0011792	Neoplasm by histology	0	RAD51C CL E G H	5889	9820	ORPHA:145	Hereditary breast and ovarian cancer syndrome			391
HP:0011792	HP:0011792	Neoplasm by histology	0	RAD51D CL E G H	5892	9823	ORPHA:145	Hereditary breast and ovarian cancer syndrome			345
HP:0011792	HP:0011792	Neoplasm by histology	0	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer			2
HP:0011792	HP:0011792	Neoplasm by histology	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011792	HP:0011792	Neoplasm by histology	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0011792	HP:0011792	Neoplasm by histology	0	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma			365
HP:0011792	HP:0011792	Neoplasm by histology	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA			365
HP:0011792	HP:0011792	Neoplasm by histology	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0011792	HP:0011792	Neoplasm by histology	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011792	HP:0011792	Neoplasm by histology	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011792	HP:0011792	Neoplasm by histology	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma			1
HP:0011792	HP:0011792	Neoplasm by histology	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011792	HP:0011792	Neoplasm by histology	0	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5			7
HP:0011792	HP:0011792	Neoplasm by histology	0	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis			7
HP:0011792	HP:0011792	Neoplasm by histology	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0011792	HP:0011792	Neoplasm by histology	0	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6			7
HP:0011792	HP:0011792	Neoplasm by histology	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0011792	HP:0011792	Neoplasm by histology	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0011792	HP:0011792	Neoplasm by histology	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome			5
HP:0011792	HP:0011792	Neoplasm by histology	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011792	HP:0011792	Neoplasm by histology	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011792	HP:0011792	Neoplasm by histology	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011792	HP:0011792	Neoplasm by histology	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011792	HP:0011792	Neoplasm by histology	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0011792	Neoplasm by histology	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011792	HP:0011792	Neoplasm by histology	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011792	HP:0011792	Neoplasm by histology	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011792	HP:0011792	Neoplasm by histology	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011792	HP:0011792	Neoplasm by histology	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011792	HP:0011792	Neoplasm by histology	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal			3
HP:0011792	HP:0011792	Neoplasm by histology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011792	HP:0011792	Neoplasm by histology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011792	HP:0011792	Neoplasm by histology	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy			181
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor			304
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor			237
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor			237
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor			147
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor			147
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011792	HP:0011792	Neoplasm by histology	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0011792	HP:0011792	Neoplasm by histology	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011792	HP:0011792	Neoplasm by histology	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0011792	HP:0011792	Neoplasm by histology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0011792	HP:0011792	Neoplasm by histology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011792	HP:0011792	Neoplasm by histology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011792	HP:0011792	Neoplasm by histology	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0011792	HP:0011792	Neoplasm by histology	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0011792	HP:0011792	Neoplasm by histology	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011792	HP:0011792	Neoplasm by histology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011792	HP:0011792	Neoplasm by histology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011792	HP:0011792	Neoplasm by histology	0	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1			3
HP:0011792	HP:0011792	Neoplasm by histology	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0011792	Neoplasm by histology	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0011792	HP:0011792	Neoplasm by histology	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0011792	HP:0011792	Neoplasm by histology	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0011792	HP:0011792	Neoplasm by histology	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0011792	HP:0011792	Neoplasm by histology	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011792	HP:0011792	Neoplasm by histology	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011792	HP:0011792	Neoplasm by histology	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0011792	HP:0011792	Neoplasm by histology	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011792	HP:0011792	Neoplasm by histology	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0011792	HP:0011792	Neoplasm by histology	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0011792	HP:0011792	Neoplasm by histology	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0011792	HP:0011792	Neoplasm by histology	0	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1			315
HP:0011792	HP:0011792	Neoplasm by histology	0	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis			315
HP:0011792	HP:0011792	Neoplasm by histology	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011792	HP:0011792	Neoplasm by histology	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0011792	HP:0011792	Neoplasm by histology	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011792	HP:0011792	Neoplasm by histology	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011792	HP:0011792	Neoplasm by histology	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0011792	Neoplasm by histology	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011792	HP:0011792	Neoplasm by histology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011792	HP:0011792	Neoplasm by histology	0	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0011792	HP:0011792	Neoplasm by histology	0	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer			15
HP:0011792	HP:0011792	Neoplasm by histology	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011792	HP:0011792	Neoplasm by histology	0	SSX1 CL E G H	6756	11335	OMIM:300813	Sarcoma, synovial
HP:0011792	HP:0011792	Neoplasm by histology	0	SSX2 CL E G H	6757	11336	OMIM:300813	Sarcoma, synovial
HP:0011792	HP:0011792	Neoplasm by histology	0	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant			740
HP:0011792	HP:0011792	Neoplasm by histology	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0011792	HP:0011792	Neoplasm by histology	0	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic			740
HP:0011792	HP:0011792	Neoplasm by histology	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0011792	Neoplasm by histology	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0011792	HP:0011792	Neoplasm by histology	0	TAF15 CL E G H	8148	11547	OMIM:612237	Chondrosarcoma, extraskeletal myxoid
HP:0011792	HP:0011792	Neoplasm by histology	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0011792	HP:0011792	Neoplasm by histology	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0011792	HP:0011792	Neoplasm by histology	0	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma
HP:0011792	HP:0011792	Neoplasm by histology	0	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma			238
HP:0011792	HP:0011792	Neoplasm by histology	0	TERT CL E G H	7015	11730	OMIM:615134	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9			238
HP:0011792	HP:0011792	Neoplasm by histology	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0011792	HP:0011792	Neoplasm by histology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011792	HP:0011792	Neoplasm by histology	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0011792	HP:0011792	Neoplasm by histology	0	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0011792	HP:0011792	Neoplasm by histology	0	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer			5
HP:0011792	HP:0011792	Neoplasm by histology	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0011792	HP:0011792	Neoplasm by histology	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0011792	HP:0011792	Neoplasm by histology	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0011792	HP:0011792	Neoplasm by histology	0	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer			911
HP:0011792	HP:0011792	Neoplasm by histology	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0011792	HP:0011792	Neoplasm by histology	0	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1			911
HP:0011792	HP:0011792	Neoplasm by histology	0	TP53 CL E G H	7157	11998	ORPHA:145	Hereditary breast and ovarian cancer syndrome			911
HP:0011792	HP:0011792	Neoplasm by histology	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0011792	HP:0011792	Neoplasm by histology	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome			911
HP:0011792	HP:0011792	Neoplasm by histology	0	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma			911
HP:0011792	HP:0011792	Neoplasm by histology	0	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus			911
HP:0011792	HP:0011792	Neoplasm by histology	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011792	HP:0011792	Neoplasm by histology	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0011792	HP:0011792	Neoplasm by histology	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011792	HP:0011792	Neoplasm by histology	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011792	HP:0011792	Neoplasm by histology	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0011792	HP:0011792	Neoplasm by histology	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0011792	HP:0011792	Neoplasm by histology	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0011792	HP:0011792	Neoplasm by histology	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0011792	Neoplasm by histology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0011792	Neoplasm by histology	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0011792	Neoplasm by histology	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0011792	Neoplasm by histology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0011792	Neoplasm by histology	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0011792	Neoplasm by histology	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0011792	Neoplasm by histology	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011792	HP:0011792	Neoplasm by histology	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011792	HP:0011792	Neoplasm by histology	0	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011792	HP:0011792	Neoplasm by histology	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0011792	HP:0011792	Neoplasm by histology	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0011792	Neoplasm by histology	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0011792	Neoplasm by histology	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011792	HP:0011792	Neoplasm by histology	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0011792	HP:0011792	Neoplasm by histology	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0011792	HP:0011792	Neoplasm by histology	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0011792	HP:0011792	Neoplasm by histology	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011792	HP:0011792	Neoplasm by histology	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011792	HP:0011792	Neoplasm by histology	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0011792	HP:0011792	Neoplasm by histology	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011792	HP:0011792	Neoplasm by histology	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome			177
HP:0011792	HP:0011792	Neoplasm by histology	0	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome			177
HP:0011792	HP:0011792	Neoplasm by histology	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0011792	HP:0011792	Neoplasm by histology	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome			177
HP:0011792	HP:0011792	Neoplasm by histology	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0011792	HP:0011792	Neoplasm by histology	0	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4			177
HP:0011792	HP:0011792	Neoplasm by histology	0	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1			177
HP:0011792	HP:0011792	Neoplasm by histology	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0011792	HP:0011792	Neoplasm by histology	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011792	HP:0011792	Neoplasm by histology	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0011792	HP:0011792	Neoplasm by histology	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0011792	HP:0011792	Neoplasm by histology	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0011792	HP:0011792	Neoplasm by histology	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C			86
HP:0011792	HP:0011792	Neoplasm by histology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011792	HP:0011792	Neoplasm by histology	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011792	HP:0011792	Neoplasm by histology	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0011792	HP:0002861	Melanoma	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional		7
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011792	HP:0100242	Sarcoma	1	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0011792	HP:0100242	Sarcoma	1	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0011792	HP:0002861	Melanoma	1	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		11
HP:0011792	HP:0010566	Hamartoma	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent		72
HP:0011792	HP:0010566	Hamartoma	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0011792	HP:0100242	Sarcoma	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011792	HP:0010566	Hamartoma	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0011792	HP:0100242	Sarcoma	1	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer			54
HP:0011792	HP:0010566	Hamartoma	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011792	HP:0002861	Melanoma	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0011792	HP:0100242	Sarcoma	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011792	HP:0010566	Hamartoma	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011792	HP:0100242	Sarcoma	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0011792	HP:0100242	Sarcoma	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0011792	HP:0010566	Hamartoma	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		54
HP:0011792	HP:0010566	Hamartoma	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0011792	HP:0002898	Embryonal neoplasm	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0011792	HP:0100242	Sarcoma	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011792	HP:0002861	Melanoma	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare		2
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0011792	HP:0100242	Sarcoma	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0011792	HP:0100242	Sarcoma	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0011792	HP:0002898	Embryonal neoplasm	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0010566	Hamartoma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0100242	Sarcoma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0031492	Epithelial neoplasm	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0100242	Sarcoma	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0010566	Hamartoma	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0100242	Sarcoma	1	APC CL E G H	324	583	OMIM:114500	Colorectal cancer			3179
HP:0011792	HP:0100242	Sarcoma	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary			3179
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary			3179
HP:0011792	HP:0100242	Sarcoma	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0011792	HP:0002898	Embryonal neoplasm	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011792	HP:0100242	Sarcoma	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0002898	Embryonal neoplasm	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0010566	Hamartoma	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0100242	Sarcoma	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0002898	Embryonal neoplasm	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0100242	Sarcoma	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0002898	Embryonal neoplasm	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011792	HP:0002898	Embryonal neoplasm	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0011792	HP:0002898	Embryonal neoplasm	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0011792	HP:0002898	Embryonal neoplasm	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0011792	HP:0100242	Sarcoma	1	ASPSCR1 CL E G H	79058	13825	OMIM:606243	Alveolar soft part sarcoma
HP:0011792	HP:0002898	Embryonal neoplasm	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011792	HP:0100242	Sarcoma	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011792	HP:0100242	Sarcoma	1	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0100242	Sarcoma	1	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer			435
HP:0011792	HP:0002861	Melanoma	1	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		184
HP:0011792	HP:0002861	Melanoma	1	BAP1 CL E G H	8314	950	OMIM:606661	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2			184
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0011792	HP:0100242	Sarcoma	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0011792	HP:0002861	Melanoma	1	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome			184
HP:0011792	HP:0002861	Melanoma	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0011792	HP:0002861	Melanoma	1	BARD1 CL E G H	580	952	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		790
HP:0011792	HP:0100242	Sarcoma	1	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer			4
HP:0011792	HP:0002898	Embryonal neoplasm	1	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.		18
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome			5
HP:0011792	HP:0002898	Embryonal neoplasm	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011792	HP:0002898	Embryonal neoplasm	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0011792	HP:0010566	Hamartoma	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0011792	HP:0100242	Sarcoma	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0011792	HP:0010566	Hamartoma	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0011792	HP:0010566	Hamartoma	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2			385
HP:0011792	HP:0100242	Sarcoma	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent		90
HP:0011792	HP:0010566	Hamartoma	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011792	HP:0100242	Sarcoma	1	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer			276
HP:0011792	HP:0010566	Hamartoma	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011792	HP:0010566	Hamartoma	1	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant			276
HP:0011792	HP:0002861	Melanoma	1	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant			276
HP:0011792	HP:0100242	Sarcoma	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011792	HP:0002861	Melanoma	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011792	HP:0010566	Hamartoma	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011792	HP:0002861	Melanoma	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		276
HP:0011792	HP:0002861	Melanoma	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		5769
HP:0011792	HP:0002861	Melanoma	1	BRCA1 CL E G H	672	1100	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		5769
HP:0011792	HP:0002861	Melanoma	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		7642
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3			7642
HP:0011792	HP:0002861	Melanoma	1	BRCA2 CL E G H	675	1101	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		7642
HP:0011792	HP:0002898	Embryonal neoplasm	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0011792	HP:0002898	Embryonal neoplasm	1	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1			7642
HP:0011792	HP:0100242	Sarcoma	1	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0002861	Melanoma	1	BRIP1 CL E G H	83990	20473	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		1086
HP:0011792	HP:0100242	Sarcoma	1	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer			5
HP:0011792	HP:0100242	Sarcoma	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011792	HP:0002898	Embryonal neoplasm	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011792	HP:0100242	Sarcoma	1	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer			76
HP:0011792	HP:0100242	Sarcoma	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011792	HP:0002898	Embryonal neoplasm	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011792	HP:0002898	Embryonal neoplasm	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011792	HP:0100242	Sarcoma	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011792	HP:0002898	Embryonal neoplasm	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011792	HP:0100242	Sarcoma	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011792	HP:0100242	Sarcoma	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011792	HP:0010566	Hamartoma	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0011792	HP:0100242	Sarcoma	1	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0010566	Hamartoma	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0011792	HP:0010566	Hamartoma	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0011792	HP:0002898	Embryonal neoplasm	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2			169
HP:0011792	HP:0010566	Hamartoma	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.		169
HP:0011792	HP:0100242	Sarcoma	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0011792	HP:0010566	Hamartoma	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0011792	HP:0002898	Embryonal neoplasm	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0011792	HP:0010566	Hamartoma	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0011792	HP:0100242	Sarcoma	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0011792	HP:0002898	Embryonal neoplasm	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0011792	HP:0002861	Melanoma	1	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		145
HP:0011792	HP:0002861	Melanoma	1	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3			145
HP:0011792	HP:0010566	Hamartoma	1	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3			145
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0100242	Sarcoma	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0100242	Sarcoma	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0010566	Hamartoma	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011792	HP:0100242	Sarcoma	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011792	HP:0010566	Hamartoma	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV			102
HP:0011792	HP:0031492	Epithelial neoplasm	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV			102
HP:0011792	HP:0002898	Embryonal neoplasm	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0011792	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		289
HP:0011792	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		289
HP:0011792	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		289
HP:0011792	HP:0100242	Sarcoma	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0011792	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	1787	OMIM:155601	Melanoma, cutaneous malignant, susceptibility to, 2			289
HP:0011792	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome			289
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome			289
HP:0011792	HP:0002861	Melanoma	1	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome	.		289
HP:0011792	HP:0100242	Sarcoma	1	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome	.		289
HP:0011792	HP:0002861	Melanoma	1	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		1
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0100242	Sarcoma	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0100242	Sarcoma	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0100242	Sarcoma	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011792	HP:0002898	Embryonal neoplasm	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011792	HP:0100242	Sarcoma	1	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer			833
HP:0011792	HP:0002861	Melanoma	1	CHEK2 CL E G H	11200	16627	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		833
HP:0011792	HP:0100242	Sarcoma	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0011792	HP:0002861	Melanoma	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		833
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0011792	HP:0100242	Sarcoma	1	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2			833
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2			833
HP:0011792	HP:0100242	Sarcoma	1	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma			833
HP:0011792	HP:0002898	Embryonal neoplasm	1	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma			833
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma			833
HP:0011792	HP:0002861	Melanoma	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional		2
HP:0011792	HP:0010566	Hamartoma	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0011792	HP:0100242	Sarcoma	1	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans			373
HP:0011792	HP:0100242	Sarcoma	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0011792	HP:0100242	Sarcoma	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0011792	HP:0002861	Melanoma	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011792	HP:0010566	Hamartoma	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011792	HP:0010566	Hamartoma	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CREB1 CL E G H	1385	2345	OMIM:612160	HISTIOCYTOMA, ANGIOMATOID FIBROUS			1
HP:0011792	HP:0100242	Sarcoma	1	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer			88
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0011792	HP:0100242	Sarcoma	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0011792	HP:0002861	Melanoma	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0011792	HP:0002861	Melanoma	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0011792	HP:0002861	Melanoma	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0011792	HP:0100242	Sarcoma	1	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer			36
HP:0011792	HP:0002861	Melanoma	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		30
HP:0011792	HP:0002861	Melanoma	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.		30
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0011792	HP:0100242	Sarcoma	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0011792	HP:0002898	Embryonal neoplasm	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011792	HP:0100242	Sarcoma	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011792	HP:0002898	Embryonal neoplasm	1	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor			670
HP:0011792	HP:0100242	Sarcoma	1	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB			670
HP:0011792	HP:0002898	Embryonal neoplasm	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2			670
HP:0011792	HP:0100242	Sarcoma	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2			670
HP:0011792	HP:0002898	Embryonal neoplasm	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0011792	HP:0002898	Embryonal neoplasm	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0011792	HP:0010566	Hamartoma	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0011792	HP:0002898	Embryonal neoplasm	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0011792	HP:0031492	Epithelial neoplasm	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011792	HP:0100242	Sarcoma	1	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer			11
HP:0011792	HP:0002898	Embryonal neoplasm	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011792	HP:0010566	Hamartoma	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0002898	Embryonal neoplasm	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011792	HP:0002898	Embryonal neoplasm	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011792	HP:0010566	Hamartoma	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0011792	HP:0002898	Embryonal neoplasm	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome			67
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011792	HP:0100242	Sarcoma	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011792	HP:0100242	Sarcoma	1	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer			250
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0011792	HP:0100242	Sarcoma	1	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease			3
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1			77
HP:0011792	HP:0002861	Melanoma	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		106
HP:0011792	HP:0002861	Melanoma	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0011792	HP:0002861	Melanoma	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		106
HP:0011792	HP:0002861	Melanoma	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		54
HP:0011792	HP:0002861	Melanoma	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0011792	HP:0002861	Melanoma	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		54
HP:0011792	HP:0002861	Melanoma	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		158
HP:0011792	HP:0002861	Melanoma	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		158
HP:0011792	HP:0002861	Melanoma	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		83
HP:0011792	HP:0002861	Melanoma	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		83
HP:0011792	HP:0002861	Melanoma	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0011792	HP:0100242	Sarcoma	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent
HP:0011792	HP:0100242	Sarcoma	1	EWSR1 CL E G H	2130	3508	OMIM:612219	Ewing sarcoma
HP:0011792	HP:0100242	Sarcoma	1	EXT1 CL E G H	2131	3512	OMIM:215300	Chondrosarcoma			96
HP:0011792	HP:0100242	Sarcoma	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I			96
HP:0011792	HP:0100242	Sarcoma	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas			96
HP:0011792	HP:0100242	Sarcoma	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II			102
HP:0011792	HP:0100242	Sarcoma	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas			102
HP:0011792	HP:0002898	Embryonal neoplasm	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0011792	HP:0010566	Hamartoma	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0011792	HP:0100242	Sarcoma	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0011792	HP:0100242	Sarcoma	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0011792	HP:0100242	Sarcoma	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0011792	HP:0100242	Sarcoma	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0011792	HP:0010566	Hamartoma	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0011792	HP:0010566	Hamartoma	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0011792	HP:0100242	Sarcoma	1	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer			145
HP:0011792	HP:0010566	Hamartoma	1	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic			145
HP:0011792	HP:0002898	Embryonal neoplasm	1	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.		145
HP:0011792	HP:0100242	Sarcoma	1	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer			301
HP:0011792	HP:0100242	Sarcoma	1	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer			301
HP:0011792	HP:0010566	Hamartoma	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0011792	HP:0002898	Embryonal neoplasm	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0011792	HP:0002898	Embryonal neoplasm	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0011792	HP:0100242	Sarcoma	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011792	HP:0100242	Sarcoma	1	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer			332
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0011792	HP:0100242	Sarcoma	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011792	HP:0100242	Sarcoma	1	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0011792	HP:0100242	Sarcoma	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0011792	HP:0100242	Sarcoma	1	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar			1
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011792	HP:0100242	Sarcoma	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0011792	HP:0002898	Embryonal neoplasm	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011792	HP:0010566	Hamartoma	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0011792	HP:0100242	Sarcoma	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040281 - Very frequent		52
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome			59
HP:0011792	HP:0100242	Sarcoma	1	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0011792	HP:0010566	Hamartoma	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0011792	HP:0010566	Hamartoma	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0011792	HP:0002861	Melanoma	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0011792	HP:0002861	Melanoma	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0011792	HP:0100242	Sarcoma	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040283 - Occasional		101
HP:0011792	HP:0002898	Embryonal neoplasm	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0011792	HP:0002898	Embryonal neoplasm	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011792	HP:0002898	Embryonal neoplasm	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.		73
HP:0011792	HP:0002898	Embryonal neoplasm	1	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1			73
HP:0011792	HP:0002898	Embryonal neoplasm	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011792	HP:0002898	Embryonal neoplasm	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0011792	HP:0002898	Embryonal neoplasm	1	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0011792	HP:0010566	Hamartoma	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0011792	HP:0100242	Sarcoma	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0011792	HP:0002898	Embryonal neoplasm	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0011792	HP:0002898	Embryonal neoplasm	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0011792	HP:0002898	Embryonal neoplasm	1	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1			4
HP:0011792	HP:0002898	Embryonal neoplasm	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0011792	HP:0002898	Embryonal neoplasm	1	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0011792	HP:0002898	Embryonal neoplasm	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0011792	HP:0002898	Embryonal neoplasm	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011792	HP:0100242	Sarcoma	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011792	HP:0100242	Sarcoma	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011792	HP:0010566	Hamartoma	1	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic			113
HP:0011792	HP:0100242	Sarcoma	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011792	HP:0002861	Melanoma	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital			113
HP:0011792	HP:0002861	Melanoma	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011792	HP:0002898	Embryonal neoplasm	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011792	HP:0100242	Sarcoma	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1			15
HP:0011792	HP:0100242	Sarcoma	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		15
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0011792	HP:0010566	Hamartoma	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011792	HP:0100242	Sarcoma	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional		15
HP:0011792	HP:0010566	Hamartoma	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease			15
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0011792	HP:0100242	Sarcoma	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		29
HP:0011792	HP:0100242	Sarcoma	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional		29
HP:0011792	HP:0010566	Hamartoma	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease			29
HP:0011792	HP:0010566	Hamartoma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0100242	Sarcoma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0010566	Hamartoma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0100242	Sarcoma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0002898	Embryonal neoplasm	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0011792	HP:0002898	Embryonal neoplasm	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0011792	HP:0002898	Embryonal neoplasm	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0011792	HP:0002898	Embryonal neoplasm	1	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1			9
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011792	HP:0100242	Sarcoma	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011792	HP:0010566	Hamartoma	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011792	HP:0002861	Melanoma	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040284 - Very rare		283
HP:0011792	HP:0002861	Melanoma	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040284 - Very rare		283
HP:0011792	HP:0010566	Hamartoma	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011792	HP:0100242	Sarcoma	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011792	HP:0100242	Sarcoma	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011792	HP:0100242	Sarcoma	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011792	HP:0002898	Embryonal neoplasm	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0011792	HP:0002898	Embryonal neoplasm	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0011792	HP:0002898	Embryonal neoplasm	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0011792	HP:0100242	Sarcoma	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011792	HP:0010566	Hamartoma	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0011792	HP:0010566	Hamartoma	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0011792	HP:0010566	Hamartoma	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0011792	HP:0100242	Sarcoma	1	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent		327
HP:0011792	HP:0100242	Sarcoma	1	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor			327
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor			327
HP:0011792	HP:0002898	Embryonal neoplasm	1	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.		327
HP:0011792	HP:0100242	Sarcoma	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0002861	Melanoma	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0011792	HP:0010566	Hamartoma	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0010566	Hamartoma	1	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4	.		1
HP:0011792	HP:0002861	Melanoma	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		196
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011792	HP:0100242	Sarcoma	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0011792	HP:0010566	Hamartoma	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			100
HP:0011792	HP:0010566	Hamartoma	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			45
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0011792	HP:0100242	Sarcoma	1	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0011792	HP:0100242	Sarcoma	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011792	HP:0100242	Sarcoma	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0010566	Hamartoma	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011792	HP:0100242	Sarcoma	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011792	HP:0002898	Embryonal neoplasm	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011792	HP:0010566	Hamartoma	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0011792	HP:0002861	Melanoma	1	MBD4 CL E G H	8930	6919	OMIM:619975				1
HP:0011792	HP:0002861	Melanoma	1	MBD4 CL E G H	8930	6919	OMIM:606660	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1			1
HP:0011792	HP:0002861	Melanoma	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional		22
HP:0011792	HP:0002861	Melanoma	1	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		124
HP:0011792	HP:0100242	Sarcoma	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		124
HP:0011792	HP:0002861	Melanoma	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011792	HP:0002861	Melanoma	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011792	HP:0100242	Sarcoma	1	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer			6
HP:0011792	HP:0010566	Hamartoma	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0011792	HP:0100242	Sarcoma	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0011792	HP:0002861	Melanoma	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		1
HP:0011792	HP:0002898	Embryonal neoplasm	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011792	HP:0100242	Sarcoma	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0100242	Sarcoma	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0002861	Melanoma	1	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		3
HP:0011792	HP:0002861	Melanoma	1	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		91
HP:0011792	HP:0002861	Melanoma	1	MITF CL E G H	4286	7105	OMIM:614456	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8			91
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0100242	Sarcoma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0100242	Sarcoma	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0011792	HP:0100242	Sarcoma	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0011792	HP:0100242	Sarcoma	1	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer			131
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0011792	HP:0002861	Melanoma	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0002898	Embryonal neoplasm	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome			17
HP:0011792	HP:0002898	Embryonal neoplasm	1	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome			17
HP:0011792	HP:0002861	Melanoma	1	MRE11 CL E G H	4361	7230	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		532
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0011792	HP:0100242	Sarcoma	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011792	HP:0100242	Sarcoma	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4			5
HP:0011792	HP:0002898	Embryonal neoplasm	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0010566	Hamartoma	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0011792	HP:0010566	Hamartoma	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0011792	HP:0100242	Sarcoma	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0011792	HP:0100242	Sarcoma	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0011792	HP:0010566	Hamartoma	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0011792	HP:0002861	Melanoma	1	NBN CL E G H	4683	7652	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		706
HP:0011792	HP:0100242	Sarcoma	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011792	HP:0100242	Sarcoma	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011792	HP:0010566	Hamartoma	1	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040281 - Very frequent		9
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0010566	Hamartoma	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0100242	Sarcoma	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0010566	Hamartoma	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0011792	HP:0010566	Hamartoma	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0100242	Sarcoma	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0010566	Hamartoma	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0100242	Sarcoma	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0010566	Hamartoma	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0100242	Sarcoma	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0010566	Hamartoma	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0100242	Sarcoma	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0100242	Sarcoma	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011792	HP:0100242	Sarcoma	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0011792	HP:0010566	Hamartoma	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011792	HP:0010566	Hamartoma	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0100242	Sarcoma	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0031492	Epithelial neoplasm	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing			37
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0011792	HP:0100242	Sarcoma	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		144
HP:0011792	HP:0002898	Embryonal neoplasm	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011792	HP:0100242	Sarcoma	1	NR4A3 CL E G H	8013	7982	OMIM:612237	Chondrosarcoma, extraskeletal myxoid
HP:0011792	HP:0002898	Embryonal neoplasm	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011792	HP:0100242	Sarcoma	1	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer			102
HP:0011792	HP:0010566	Hamartoma	1	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic			102
HP:0011792	HP:0100242	Sarcoma	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		102
HP:0011792	HP:0002861	Melanoma	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011792	HP:0100242	Sarcoma	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011792	HP:0002861	Melanoma	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital			102
HP:0011792	HP:0002861	Melanoma	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.		102
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011792	HP:0002898	Embryonal neoplasm	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0100242	Sarcoma	1	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0002861	Melanoma	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011792	HP:0010566	Hamartoma	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011792	HP:0010566	Hamartoma	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0011792	HP:0010566	Hamartoma	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0011792	HP:0002861	Melanoma	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		1349
HP:0011792	HP:0002898	Embryonal neoplasm	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011792	HP:0002861	Melanoma	1	PALB2 CL E G H	79728	26144	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		1349
HP:0011792	HP:0002861	Melanoma	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		192
HP:0011792	HP:0100242	Sarcoma	1	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar			59
HP:0011792	HP:0002898	Embryonal neoplasm	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0011792	HP:0100242	Sarcoma	1	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar
HP:0011792	HP:0010566	Hamartoma	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011792	HP:0100242	Sarcoma	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0002898	Embryonal neoplasm	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011792	HP:0100242	Sarcoma	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011792	HP:0010566	Hamartoma	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0011792	HP:0100242	Sarcoma	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011792	HP:0100242	Sarcoma	1	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans			9
HP:0011792	HP:0100242	Sarcoma	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0011792	HP:0100242	Sarcoma	1	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent		337
HP:0011792	HP:0100242	Sarcoma	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		28
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0011792	HP:0100242	Sarcoma	1	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1			28
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1			28
HP:0011792	HP:0100242	Sarcoma	1	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer			2
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0002861	Melanoma	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional
HP:0011792	HP:0002898	Embryonal neoplasm	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome			86
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2			86
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome			86
HP:0011792	HP:0100242	Sarcoma	1	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer			162
HP:0011792	HP:0002898	Embryonal neoplasm	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0011792	HP:0010566	Hamartoma	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011792	HP:0100242	Sarcoma	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011792	HP:0002861	Melanoma	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011792	HP:0010566	Hamartoma	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0011792	HP:0010566	Hamartoma	1	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic			162
HP:0011792	HP:0002898	Embryonal neoplasm	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0011792	HP:0002898	Embryonal neoplasm	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0011792	HP:0100242	Sarcoma	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0011792	HP:0002898	Embryonal neoplasm	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0011792	HP:0100242	Sarcoma	1	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0100242	Sarcoma	1	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011792	HP:0031492	Epithelial neoplasm	1	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10			731
HP:0011792	HP:0031492	Epithelial neoplasm	1	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12			1129
HP:0011792	HP:0002861	Melanoma	1	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent		155
HP:0011792	HP:0002861	Melanoma	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type			155
HP:0011792	HP:0002861	Melanoma	1	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		23
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9			23
HP:0011792	HP:0002861	Melanoma	1	POT1 CL E G H	25913	17284	OMIM:615848	Melanoma, cutaneous malignant, susceptibility to, 10	.		23
HP:0011792	HP:0002898	Embryonal neoplasm	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0011792	HP:0002898	Embryonal neoplasm	1	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5			2
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011792	HP:0100242	Sarcoma	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011792	HP:0100242	Sarcoma	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0002898	Embryonal neoplasm	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0100242	Sarcoma	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011792	HP:0100242	Sarcoma	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0100242	Sarcoma	1	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0011792	HP:0010566	Hamartoma	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0100242	Sarcoma	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0100242	Sarcoma	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011792	HP:0002898	Embryonal neoplasm	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0100242	Sarcoma	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0010566	Hamartoma	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0010566	Hamartoma	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011792	HP:0010566	Hamartoma	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011792	HP:0100242	Sarcoma	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011792	HP:0002861	Melanoma	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0011792	HP:0031492	Epithelial neoplasm	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011792	HP:0100242	Sarcoma	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011792	HP:0010566	Hamartoma	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011792	HP:0002861	Melanoma	1	PTEN CL E G H	5728	9588	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		948
HP:0011792	HP:0010566	Hamartoma	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0011792	HP:0100242	Sarcoma	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011792	HP:0010566	Hamartoma	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		948
HP:0011792	HP:0010566	Hamartoma	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040282 - Frequent		948
HP:0011792	HP:0010566	Hamartoma	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease			58
HP:0011792	HP:0100242	Sarcoma	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional		58
HP:0011792	HP:0100242	Sarcoma	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011792	HP:0002861	Melanoma	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		291
HP:0011792	HP:0100242	Sarcoma	1	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0100242	Sarcoma	1	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer			3
HP:0011792	HP:0002861	Melanoma	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0011792	HP:0002861	Melanoma	1	RABL3 CL E G H	285282	18072	OMIM:618680	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0011792	HP:0002861	Melanoma	1	RAD50 CL E G H	10111	9816	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		789
HP:0011792	HP:0002861	Melanoma	1	RAD51 CL E G H	5888	9817	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		9
HP:0011792	HP:0002861	Melanoma	1	RAD51C CL E G H	5889	9820	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		391
HP:0011792	HP:0002861	Melanoma	1	RAD51D CL E G H	5892	9823	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		345
HP:0011792	HP:0100242	Sarcoma	1	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer			2
HP:0011792	HP:0002861	Melanoma	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		212
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011792	HP:0100242	Sarcoma	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0011792	HP:0002898	Embryonal neoplasm	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma			365
HP:0011792	HP:0100242	Sarcoma	1	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma			365
HP:0011792	HP:0002898	Embryonal neoplasm	1	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma			365
HP:0011792	HP:0100242	Sarcoma	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA			365
HP:0011792	HP:0002898	Embryonal neoplasm	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA			365
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA			365
HP:0011792	HP:0100242	Sarcoma	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0011792	HP:0002861	Melanoma	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040284 - Very rare		445
HP:0011792	HP:0100242	Sarcoma	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011792	HP:0100242	Sarcoma	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma			1
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5			7
HP:0011792	HP:0100242	Sarcoma	1	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5			7
HP:0011792	HP:0100242	Sarcoma	1	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis			7
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis			7
HP:0011792	HP:0002898	Embryonal neoplasm	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0011792	HP:0002898	Embryonal neoplasm	1	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6			7
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0011792	HP:0010566	Hamartoma	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0011792	HP:0002861	Melanoma	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040284 - Very rare		5
HP:0011792	HP:0100242	Sarcoma	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011792	HP:0100242	Sarcoma	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011792	HP:0100242	Sarcoma	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0011792	HP:0100242	Sarcoma	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011792	HP:0100242	Sarcoma	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0100242	Sarcoma	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0011792	HP:0100242	Sarcoma	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0011792	HP:0100242	Sarcoma	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0011792	HP:0100242	Sarcoma	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0011792	HP:0100242	Sarcoma	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0011792	HP:0100242	Sarcoma	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0011792	HP:0100242	Sarcoma	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0011792	HP:0100242	Sarcoma	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0011792	HP:0100242	Sarcoma	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0011792	HP:0100242	Sarcoma	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0011792	HP:0100242	Sarcoma	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0011792	HP:0100242	Sarcoma	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011792	HP:0100242	Sarcoma	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0100242	Sarcoma	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0100242	Sarcoma	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0011792	HP:0100242	Sarcoma	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0011792	HP:0031492	Epithelial neoplasm	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal			3
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011792	HP:0100242	Sarcoma	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011792	HP:0002898	Embryonal neoplasm	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy			181
HP:0011792	HP:0100242	Sarcoma	1	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent		304
HP:0011792	HP:0010566	Hamartoma	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0011792	HP:0010566	Hamartoma	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011792	HP:0002861	Melanoma	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0011792	HP:0010566	Hamartoma	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011792	HP:0100242	Sarcoma	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor			237
HP:0011792	HP:0100242	Sarcoma	1	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent		237
HP:0011792	HP:0100242	Sarcoma	1	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor			237
HP:0011792	HP:0010566	Hamartoma	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011792	HP:0100242	Sarcoma	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011792	HP:0002861	Melanoma	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0011792	HP:0010566	Hamartoma	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011792	HP:0100242	Sarcoma	1	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040281 - Very frequent		147
HP:0011792	HP:0100242	Sarcoma	1	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor			147
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor			147
HP:0011792	HP:0010566	Hamartoma	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0011792	HP:0100242	Sarcoma	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011792	HP:0010566	Hamartoma	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011792	HP:0002861	Melanoma	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0011792	HP:0010566	Hamartoma	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0011792	HP:0002861	Melanoma	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0011792	HP:0010566	Hamartoma	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011792	HP:0100242	Sarcoma	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0011792	HP:0002898	Embryonal neoplasm	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011792	HP:0002898	Embryonal neoplasm	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011792	HP:0002898	Embryonal neoplasm	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011792	HP:0002861	Melanoma	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0011792	HP:0010566	Hamartoma	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011792	HP:0002898	Embryonal neoplasm	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011792	HP:0002898	Embryonal neoplasm	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011792	HP:0002898	Embryonal neoplasm	1	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1			3
HP:0011792	HP:0100242	Sarcoma	1	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1			3
HP:0011792	HP:0010566	Hamartoma	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0002898	Embryonal neoplasm	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0011792	HP:0002861	Melanoma	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040283 - Occasional		12
HP:0011792	HP:0002861	Melanoma	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		504
HP:0011792	HP:0010566	Hamartoma	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0011792	HP:0002898	Embryonal neoplasm	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0011792	HP:0002898	Embryonal neoplasm	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0011792	HP:0100242	Sarcoma	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0011792	HP:0002898	Embryonal neoplasm	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0011792	HP:0002898	Embryonal neoplasm	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011792	HP:0002898	Embryonal neoplasm	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0011792	HP:0100242	Sarcoma	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0011792	HP:0010566	Hamartoma	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0011792	HP:0100242	Sarcoma	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0011792	HP:0100242	Sarcoma	1	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1			315
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1			315
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis			315
HP:0011792	HP:0100242	Sarcoma	1	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis			315
HP:0011792	HP:0002898	Embryonal neoplasm	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0011792	HP:0010566	Hamartoma	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0011792	HP:0002898	Embryonal neoplasm	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011792	HP:0002898	Embryonal neoplasm	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011792	HP:0100242	Sarcoma	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0100242	Sarcoma	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011792	HP:0002898	Embryonal neoplasm	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011792	HP:0100242	Sarcoma	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011792	HP:0100242	Sarcoma	1	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0011792	HP:0100242	Sarcoma	1	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer			15
HP:0011792	HP:0002898	Embryonal neoplasm	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011792	HP:0100242	Sarcoma	1	SSX1 CL E G H	6756	11335	OMIM:300813	Sarcoma, synovial
HP:0011792	HP:0100242	Sarcoma	1	SSX2 CL E G H	6757	11336	OMIM:300813	Sarcoma, synovial
HP:0011792	HP:0002861	Melanoma	1	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant			740
HP:0011792	HP:0010566	Hamartoma	1	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant			740
HP:0011792	HP:0010566	Hamartoma	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0011792	HP:0002898	Embryonal neoplasm	1	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.		740
HP:0011792	HP:0010566	Hamartoma	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0100242	Sarcoma	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0100242	Sarcoma	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0011792	HP:0100242	Sarcoma	1	TAF15 CL E G H	8148	11547	OMIM:612237	Chondrosarcoma, extraskeletal myxoid
HP:0011792	HP:0010566	Hamartoma	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0011792	HP:0010566	Hamartoma	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0011792	HP:0002861	Melanoma	1	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent
HP:0011792	HP:0002861	Melanoma	1	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		238
HP:0011792	HP:0002861	Melanoma	1	TERT CL E G H	7015	11730	OMIM:615134	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9			238
HP:0011792	HP:0100242	Sarcoma	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0011792	HP:0010566	Hamartoma	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0011792	HP:0010566	Hamartoma	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0011792	HP:0100242	Sarcoma	1	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer			5
HP:0011792	HP:0010566	Hamartoma	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0011792	HP:0010566	Hamartoma	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0011792	HP:0010566	Hamartoma	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0011792	HP:0100242	Sarcoma	1	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer			911
HP:0011792	HP:0002861	Melanoma	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		911
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1			911
HP:0011792	HP:0002861	Melanoma	1	TP53 CL E G H	7157	11998	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		911
HP:0011792	HP:0002861	Melanoma	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		911
HP:0011792	HP:0100242	Sarcoma	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0011792	HP:0002898	Embryonal neoplasm	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome			911
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0011792	HP:0100242	Sarcoma	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome			911
HP:0011792	HP:0100242	Sarcoma	1	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma			911
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma			911
HP:0011792	HP:0002898	Embryonal neoplasm	1	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma			911
HP:0011792	HP:0100242	Sarcoma	1	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus			911
HP:0011792	HP:0100242	Sarcoma	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011792	HP:0002898	Embryonal neoplasm	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0011792	HP:0002898	Embryonal neoplasm	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011792	HP:0002898	Embryonal neoplasm	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011792	HP:0100242	Sarcoma	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011792	HP:0002898	Embryonal neoplasm	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0011792	HP:0002898	Embryonal neoplasm	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0011792	HP:0002861	Melanoma	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional		151
HP:0011792	HP:0100242	Sarcoma	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0010566	Hamartoma	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0100242	Sarcoma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0010566	Hamartoma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0010566	Hamartoma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0100242	Sarcoma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0100242	Sarcoma	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0010566	Hamartoma	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0010566	Hamartoma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0100242	Sarcoma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0010566	Hamartoma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0100242	Sarcoma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0100242	Sarcoma	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011792	HP:0002861	Melanoma	1	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0011792	HP:0002861	Melanoma	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040283 - Occasional		146
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0100242	Sarcoma	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0012316	Fibrous tissue neoplasm	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0002861	Melanoma	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0011792	HP:0010566	Hamartoma	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0002898	Embryonal neoplasm	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011792	HP:0010566	Hamartoma	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0011792	HP:0010566	Hamartoma	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0011792	HP:0010566	Hamartoma	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0011792	HP:0010566	Hamartoma	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011792	HP:0002861	Melanoma	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional		310
HP:0011792	HP:0100242	Sarcoma	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0011792	HP:0100242	Sarcoma	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional		310
HP:0011792	HP:0002898	Embryonal neoplasm	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011792	HP:0002898	Embryonal neoplasm	1	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome			177
HP:0011792	HP:0002898	Embryonal neoplasm	1	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome			177
HP:0011792	HP:0100242	Sarcoma	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent		177
HP:0011792	HP:0002898	Embryonal neoplasm	1	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome			177
HP:0011792	HP:0002898	Embryonal neoplasm	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0011792	HP:0002898	Embryonal neoplasm	1	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4			177
HP:0011792	HP:0002898	Embryonal neoplasm	1	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1			177
HP:0011792	HP:0002898	Embryonal neoplasm	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0011792	HP:0002898	Embryonal neoplasm	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011792	HP:0002861	Melanoma	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		34
HP:0011792	HP:0002861	Melanoma	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0011792	HP:0002861	Melanoma	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		86
HP:0011792	HP:0002861	Melanoma	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C			86
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011792	HP:0002898	Embryonal neoplasm	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011792	HP:0030060	Nervous tissue neoplasm	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0011792	HP:0100882	Fibrous hamartoma	2	CL E G H
HP:0011792	HP:0008663	Renal sarcoma	2	CL E G H
HP:0011792	HP:0034514	Liver hamartoma	2	CL E G H
HP:0011792	HP:0032579	Vascular hamartoma	2	CL E G H
HP:0011792	HP:0031493	Glandular cell neoplasm	2	CL E G H
HP:0011792	HP:0034402	Rhabdoid tumor of the kidney	2	CL E G H
HP:0011792	HP:0100883	Chorangioma	2	CL E G H
HP:0011792	HP:0034401	Atypical teratoid/rhabdoid tumor	2	CL E G H
HP:0011792	HP:0031111	Cutaneous hamartoma	2	CL E G H
HP:0011792	HP:0010614	Fibroma	2	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0011792	HP:0010614	Fibroma	2	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0011792	HP:0002669	Osteosarcoma	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011792	HP:0100764	Lymphangioma	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer			54
HP:0011792	HP:0010614	Fibroma	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011792	HP:0030448	Soft tissue sarcoma	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011792	HP:0004390	Hamartomatous polyposis	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0011792	HP:0030448	Soft tissue sarcoma	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011792	HP:0010614	Fibroma	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011792	HP:0004390	Hamartomatous polyposis	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0011792	HP:0030448	Soft tissue sarcoma	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0011792	HP:0010614	Fibroma	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011792	HP:0100764	Lymphangioma	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0011792	HP:0100764	Lymphangioma	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0011792	HP:0002669	Osteosarcoma	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare		2
HP:0011792	HP:0030448	Soft tissue sarcoma	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0011792	HP:0010614	Fibroma	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0011792	HP:0030448	Soft tissue sarcoma	2	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0011792	HP:0010614	Fibroma	2	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0011792	HP:0030448	Soft tissue sarcoma	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0010614	Fibroma	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	HP:0040283 - Occasional		3179
HP:0011792	HP:0030731	Carcinoma	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.		3179
HP:0011792	HP:0002884	Hepatoblastoma	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0011068	Odontoma	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.		3179
HP:0011792	HP:0010614	Fibroma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0030448	Soft tissue sarcoma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0011068	Odontoma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0030448	Soft tissue sarcoma	2	APC CL E G H	324	583	OMIM:114500	Colorectal cancer			3179
HP:0011792	HP:0030448	Soft tissue sarcoma	2	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary			3179
HP:0011792	HP:0010614	Fibroma	2	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary			3179
HP:0011792	HP:0030448	Soft tissue sarcoma	2	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0011792	HP:0010614	Fibroma	2	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		3179
HP:0011792	HP:0030448	Soft tissue sarcoma	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011792	HP:0002884	Hepatoblastoma	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040284 - Very rare		3179
HP:0011792	HP:0010614	Fibroma	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0030448	Soft tissue sarcoma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0010614	Fibroma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0002884	Hepatoblastoma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0011792	HP:0011068	Odontoma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0002884	Hepatoblastoma	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0010614	Fibroma	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0030448	Soft tissue sarcoma	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011792	HP:0009792	Teratoma	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011792	HP:0002884	Hepatoblastoma	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		88
HP:0011792	HP:0002884	Hepatoblastoma	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		219
HP:0011792	HP:0002884	Hepatoblastoma	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		25
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0011792	HP:0030448	Soft tissue sarcoma	2	ASPSCR1 CL E G H	79058	13825	OMIM:606243	Alveolar soft part sarcoma
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011792	HP:0030448	Soft tissue sarcoma	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011792	HP:0010614	Fibroma	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011792	HP:0030448	Soft tissue sarcoma	2	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer			435
HP:0011792	HP:0007716	Uveal melanoma	2	BAP1 CL E G H	8314	950	OMIM:606661	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2			184
HP:0011792	HP:0010614	Fibroma	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0011792	HP:0012056	Cutaneous melanoma	2	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome	.		184
HP:0011792	HP:0007716	Uveal melanoma	2	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome	.		184
HP:0011792	HP:0007716	Uveal melanoma	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer			4
HP:0011792	HP:0009792	Teratoma	2	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.		18
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome			5
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0011792	HP:0010614	Fibroma	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0011792	HP:0004390	Hamartomatous polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0011792	HP:0004390	Hamartomatous polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		385
HP:0011792	HP:0004390	Hamartomatous polyposis	2	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2			385
HP:0011792	HP:0001054	Numerous nevi	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer			276
HP:0011792	HP:0001054	Numerous nevi	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011792	HP:0001054	Numerous nevi	2	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.		276
HP:0011792	HP:0012056	Cutaneous melanoma	2	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.		276
HP:0011792	HP:0007716	Uveal melanoma	2	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.		276
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011792	HP:0012056	Cutaneous melanoma	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011792	HP:0001054	Numerous nevi	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3			7642
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1			7642
HP:0011792	HP:0012254	Ewing sarcoma	2	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer			5
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer			76
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011792	HP:0006743	Embryonal rhabdomyosarcoma	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011792	HP:0030448	Soft tissue sarcoma	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011792	HP:0010614	Fibroma	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011792	HP:0100764	Lymphangioma	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		147
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2			169
HP:0011792	HP:0008696	Renal hamartoma	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0011792	HP:0010614	Fibroma	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent		169
HP:0011792	HP:0008696	Renal hamartoma	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0011792	HP:0010614	Fibroma	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent		169
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0011792	HP:0012056	Cutaneous melanoma	2	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.		145
HP:0011792	HP:0001054	Numerous nevi	2	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.		145
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0010614	Fibroma	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0010614	Fibroma	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011792	HP:0010614	Fibroma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011792	HP:0008696	Renal hamartoma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011792	HP:0030731	Carcinoma	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.		102
HP:0011792	HP:0008696	Renal hamartoma	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV			102
HP:0011792	HP:0002884	Hepatoblastoma	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0011792	HP:0002669	Osteosarcoma	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		289
HP:0011792	HP:0012056	Cutaneous melanoma	2	CDKN2A CL E G H	1029	1787	OMIM:155601	Melanoma, cutaneous malignant, susceptibility to, 2	.		289
HP:0011792	HP:0012056	Cutaneous melanoma	2	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome	.		289
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome			289
HP:0011792	HP:0010614	Fibroma	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0010614	Fibroma	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer			833
HP:0011792	HP:0002669	Osteosarcoma	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		833
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2			833
HP:0011792	HP:0009919	Retinoblastoma	2	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma	.		833
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma			833
HP:0011792	HP:0002669	Osteosarcoma	2	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma	.		833
HP:0011792	HP:0100764	Lymphangioma	2	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional		177
HP:0011792	HP:0030448	Soft tissue sarcoma	2	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans			373
HP:0011792	HP:0030448	Soft tissue sarcoma	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0011792	HP:0010614	Fibroma	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0011792	HP:0030448	Soft tissue sarcoma	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0011792	HP:0010614	Fibroma	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0011792	HP:0012056	Cutaneous melanoma	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0011792	HP:0009731	Cerebral hamartoma	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011792	HP:0009731	Cerebral hamartoma	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0011792	HP:0012315	Histiocytoma	2	CREB1 CL E G H	1385	2345	OMIM:612160	HISTIOCYTOMA, ANGIOMATOID FIBROUS			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer			88
HP:0011792	HP:0030448	Soft tissue sarcoma	2	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0011792	HP:0010614	Fibroma	2	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		88
HP:0011792	HP:0012056	Cutaneous melanoma	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040284 - Very rare		9
HP:0011792	HP:0007716	Uveal melanoma	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer			36
HP:0011792	HP:0030448	Soft tissue sarcoma	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0011792	HP:0010614	Fibroma	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011792	HP:0030448	Soft tissue sarcoma	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor			670
HP:0011792	HP:0030448	Soft tissue sarcoma	2	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB			670
HP:0011792	HP:0006743	Embryonal rhabdomyosarcoma	2	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2			670
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2			670
HP:0011792	HP:0030448	Soft tissue sarcoma	2	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2			670
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0011792	HP:0008696	Renal hamartoma	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0011792	HP:0030731	Carcinoma	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011792	HP:0030448	Soft tissue sarcoma	2	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer			11
HP:0011792	HP:0002884	Hepatoblastoma	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0011792	HP:0002884	Hepatoblastoma	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0011792	HP:0002884	Hepatoblastoma	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		4
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome			67
HP:0011792	HP:0010614	Fibroma	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011792	HP:0030448	Soft tissue sarcoma	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011792	HP:0030448	Soft tissue sarcoma	2	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer			250
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0011792	HP:0030448	Soft tissue sarcoma	2	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease			3
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1			77
HP:0011792	HP:0012056	Cutaneous melanoma	2	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0011792	HP:0012254	Ewing sarcoma	2	EWSR1 CL E G H	2130	3508	OMIM:612219	Ewing sarcoma	.
HP:0011792	HP:0006765	Chondrosarcoma	2	EXT1 CL E G H	2131	3512	OMIM:215300	Chondrosarcoma	.		96
HP:0011792	HP:0006765	Chondrosarcoma	2	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.		96
HP:0011792	HP:0006765	Chondrosarcoma	2	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		96
HP:0011792	HP:0006765	Chondrosarcoma	2	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.		102
HP:0011792	HP:0006765	Chondrosarcoma	2	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare		102
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0011792	HP:0009731	Cerebral hamartoma	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0011792	HP:0010614	Fibroma	2	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0011792	HP:0010614	Fibroma	2	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0011792	HP:0010614	Fibroma	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0011792	HP:0010614	Fibroma	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0011792	HP:0100764	Lymphangioma	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		114
HP:0011792	HP:0011068	Odontoma	2	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040283 - Occasional		18
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer			145
HP:0011792	HP:0001054	Numerous nevi	2	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic	.		145
HP:0011792	HP:0009792	Teratoma	2	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.		145
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer			301
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer			301
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer			332
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0011792	HP:0010614	Fibroma	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0011792	HP:0025197	Inclusion body fibromatosis	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0011792	HP:0030448	Soft tissue sarcoma	2	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar			1
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011792	HP:0002669	Osteosarcoma	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0011792	HP:0009731	Cerebral hamartoma	2	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome			59
HP:0011792	HP:0030448	Soft tissue sarcoma	2	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0011792	HP:0009731	Cerebral hamartoma	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0011792	HP:0009731	Cerebral hamartoma	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0011792	HP:0007716	Uveal melanoma	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0011792	HP:0007716	Uveal melanoma	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011792	HP:0002884	Hepatoblastoma	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011792	HP:0002884	Hepatoblastoma	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1			73
HP:0011792	HP:0002884	Hepatoblastoma	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011792	HP:0002884	Hepatoblastoma	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1
HP:0011792	HP:0010614	Fibroma	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0011792	HP:0004390	Hamartomatous polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0011792	HP:0030448	Soft tissue sarcoma	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia			4
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1			4
HP:0011792	HP:0002884	Hepatoblastoma	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome			33
HP:0011792	HP:0002669	Osteosarcoma	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011792	HP:0030448	Soft tissue sarcoma	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011792	HP:0001054	Numerous nevi	2	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic	.		113
HP:0011792	HP:0030448	Soft tissue sarcoma	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011792	HP:0010614	Fibroma	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011792	HP:0012056	Cutaneous melanoma	2	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.		113
HP:0011792	HP:0030448	Soft tissue sarcoma	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011792	HP:0012056	Cutaneous melanoma	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1			15
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0011792	HP:0006765	Chondrosarcoma	2	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		15
HP:0011792	HP:0100764	Lymphangioma	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011792	HP:0006765	Chondrosarcoma	2	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional		15
HP:0011792	HP:0100764	Lymphangioma	2	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional		15
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0011792	HP:0006765	Chondrosarcoma	2	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		29
HP:0011792	HP:0006765	Chondrosarcoma	2	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional		29
HP:0011792	HP:0100764	Lymphangioma	2	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional		29
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0030448	Soft tissue sarcoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0008696	Renal hamartoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0009731	Cerebral hamartoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0010614	Fibroma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0010614	Fibroma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0008696	Renal hamartoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0030448	Soft tissue sarcoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0009731	Cerebral hamartoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0002884	Hepatoblastoma	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia			9
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1			9
HP:0011792	HP:0010614	Fibroma	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011792	HP:0030448	Soft tissue sarcoma	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011792	HP:0001054	Numerous nevi	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011792	HP:0001054	Numerous nevi	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011792	HP:0010614	Fibroma	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011792	HP:0010614	Fibroma	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011792	HP:0030448	Soft tissue sarcoma	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011792	HP:0010614	Fibroma	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011792	HP:0030448	Soft tissue sarcoma	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0011792	HP:0002884	Hepatoblastoma	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0011792	HP:0002884	Hepatoblastoma	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia			1
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011792	HP:0030448	Soft tissue sarcoma	2	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011792	HP:0009731	Cerebral hamartoma	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0011792	HP:0009731	Cerebral hamartoma	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0011792	HP:0010614	Fibroma	2	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor			327
HP:0011792	HP:0030448	Soft tissue sarcoma	2	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor			327
HP:0011792	HP:0009792	Teratoma	2	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.		327
HP:0011792	HP:0030448	Soft tissue sarcoma	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0010614	Fibroma	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0004390	Hamartomatous polyposis	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0010614	Fibroma	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011792	HP:0030448	Soft tissue sarcoma	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			100
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			45
HP:0011792	HP:0010614	Fibroma	2	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0011792	HP:0030448	Soft tissue sarcoma	2	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0011792	HP:0002669	Osteosarcoma	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011792	HP:0030448	Soft tissue sarcoma	2	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011792	HP:0010614	Fibroma	2	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0009731	Cerebral hamartoma	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0011792	HP:0007716	Uveal melanoma	2	MBD4 CL E G H	8930	6919	OMIM:619975				1
HP:0011792	HP:0007716	Uveal melanoma	2	MBD4 CL E G H	8930	6919	OMIM:606660	MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011792	HP:0012056	Cutaneous melanoma	2	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		124
HP:0011792	HP:0012056	Cutaneous melanoma	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional		124
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer			6
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0011792	HP:0002669	Osteosarcoma	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		1
HP:0011792	HP:0002884	Hepatoblastoma	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011792	HP:0010614	Fibroma	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0010614	Fibroma	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0012056	Cutaneous melanoma	2	MITF CL E G H	4286	7105	OMIM:614456	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8			91
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0010614	Fibroma	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011792	HP:0010614	Fibroma	2	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0011792	HP:0010614	Fibroma	2	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer			131
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0011792	HP:0012056	Cutaneous melanoma	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0009792	Teratoma	2	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome			17
HP:0011792	HP:0009792	Teratoma	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome			17
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011792	HP:0010614	Fibroma	2	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0011792	HP:0010614	Fibroma	2	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4			5
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0009792	Teratoma	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0004390	Hamartomatous polyposis	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0010614	Fibroma	2	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0011792	HP:0030448	Soft tissue sarcoma	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0011792	HP:0002669	Osteosarcoma	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0011792	HP:0012315	Histiocytoma	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0011792	HP:0008696	Renal hamartoma	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0010614	Fibroma	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0011792	HP:0010614	Fibroma	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0010614	Fibroma	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0010614	Fibroma	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0010614	Fibroma	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0010614	Fibroma	2	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011792	HP:0010614	Fibroma	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011792	HP:0010614	Fibroma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0030731	Carcinoma	2	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.		37
HP:0011792	HP:0010614	Fibroma	2	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		144
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0011792	HP:0006765	Chondrosarcoma	2	NR4A3 CL E G H	8013	7982	OMIM:612237	Chondrosarcoma, extraskeletal myxoid	.
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer			102
HP:0011792	HP:0001054	Numerous nevi	2	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic	.		102
HP:0011792	HP:0012056	Cutaneous melanoma	2	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		102
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011792	HP:0010614	Fibroma	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011792	HP:0030448	Soft tissue sarcoma	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011792	HP:0012056	Cutaneous melanoma	2	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.		102
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011792	HP:0009792	Teratoma	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011792	HP:0012254	Ewing sarcoma	2	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0012056	Cutaneous melanoma	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional		121
HP:0011792	HP:0009731	Cerebral hamartoma	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011792	HP:0009731	Cerebral hamartoma	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0011792	HP:0100764	Lymphangioma	2	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar			59
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar
HP:0011792	HP:0001054	Numerous nevi	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0010614	Fibroma	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0009792	Teratoma	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011792	HP:0010614	Fibroma	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011792	HP:0009731	Cerebral hamartoma	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011792	HP:0010614	Fibroma	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans			9
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0011792	HP:0010614	Fibroma	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0011792	HP:0010614	Fibroma	2	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		28
HP:0011792	HP:0010614	Fibroma	2	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1	.		28
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1			28
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer			2
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome			86
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2			86
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome			86
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer			162
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011792	HP:0004390	Hamartomatous polyposis	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011792	HP:0010614	Fibroma	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0011792	HP:0004390	Hamartomatous polyposis	2	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0011792	HP:0001054	Numerous nevi	2	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic	.		162
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0011792	HP:0010614	Fibroma	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0011792	HP:0002884	Hepatoblastoma	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		563
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0010614	Fibroma	2	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011792	HP:0030731	Carcinoma	2	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10	.		731
HP:0011792	HP:0030731	Carcinoma	2	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12	.		1129
HP:0011792	HP:0012056	Cutaneous melanoma	2	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.		155
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9			23
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5			2
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011792	HP:0010614	Fibroma	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011792	HP:0010614	Fibroma	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0009792	Teratoma	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0010614	Fibroma	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011792	HP:0010614	Fibroma	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0010614	Fibroma	2	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0010614	Fibroma	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0004390	Hamartomatous polyposis	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011792	HP:0010614	Fibroma	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0010614	Fibroma	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0004390	Hamartomatous polyposis	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0004390	Hamartomatous polyposis	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent		948
HP:0011792	HP:0010614	Fibroma	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0011792	HP:0004390	Hamartomatous polyposis	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011792	HP:0004390	Hamartomatous polyposis	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0011792	HP:0010614	Fibroma	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011792	HP:0030731	Carcinoma	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0011792	HP:0004390	Hamartomatous polyposis	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent		948
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011792	HP:0010614	Fibroma	2	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011792	HP:0100764	Lymphangioma	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011792	HP:0100764	Lymphangioma	2	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent		948
HP:0011792	HP:0100764	Lymphangioma	2	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional		58
HP:0011792	HP:0006765	Chondrosarcoma	2	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional		58
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0030448	Soft tissue sarcoma	2	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer			3
HP:0011792	HP:0030448	Soft tissue sarcoma	2	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer			2
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011792	HP:0030448	Soft tissue sarcoma	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011792	HP:0010614	Fibroma	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011792	HP:0009919	Retinoblastoma	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent		365
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma			365
HP:0011792	HP:0009919	Retinoblastoma	2	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma	.		365
HP:0011792	HP:0002669	Osteosarcoma	2	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma	.		365
HP:0011792	HP:0009919	Retinoblastoma	2	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.		365
HP:0011792	HP:0012254	Ewing sarcoma	2	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.		365
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA			365
HP:0011792	HP:0002669	Osteosarcoma	2	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.		365
HP:0011792	HP:0002669	Osteosarcoma	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional		445
HP:0011792	HP:0002669	Osteosarcoma	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0011792	HP:0002669	Osteosarcoma	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma			1
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011792	HP:0030448	Soft tissue sarcoma	2	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5			7
HP:0011792	HP:0010614	Fibroma	2	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5			7
HP:0011792	HP:0030448	Soft tissue sarcoma	2	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis			7
HP:0011792	HP:0010614	Fibroma	2	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis			7
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6			7
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0011792	HP:0002669	Osteosarcoma	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011792	HP:0002669	Osteosarcoma	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011792	HP:0002669	Osteosarcoma	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011792	HP:0002669	Osteosarcoma	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011792	HP:0002669	Osteosarcoma	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011792	HP:0002669	Osteosarcoma	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011792	HP:0002669	Osteosarcoma	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011792	HP:0002669	Osteosarcoma	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0011792	HP:0002669	Osteosarcoma	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0011792	HP:0002669	Osteosarcoma	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0011792	HP:0002669	Osteosarcoma	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0011792	HP:0002669	Osteosarcoma	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0011792	HP:0002669	Osteosarcoma	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0011792	HP:0002669	Osteosarcoma	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0011792	HP:0002669	Osteosarcoma	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0011792	HP:0002669	Osteosarcoma	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0011792	HP:0002669	Osteosarcoma	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011792	HP:0002669	Osteosarcoma	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011792	HP:0002669	Osteosarcoma	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011792	HP:0002669	Osteosarcoma	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0011792	HP:0002669	Osteosarcoma	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0011792	HP:0030731	Carcinoma	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.		3
HP:0011792	HP:0030448	Soft tissue sarcoma	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011792	HP:0010614	Fibroma	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011792	HP:0002884	Hepatoblastoma	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy			181
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0011792	HP:0004390	Hamartomatous polyposis	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011792	HP:0010614	Fibroma	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0011792	HP:0010614	Fibroma	2	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor			237
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor			237
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011792	HP:0004390	Hamartomatous polyposis	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0011792	HP:0010614	Fibroma	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011792	HP:0010614	Fibroma	2	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor			147
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor			147
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011792	HP:0004390	Hamartomatous polyposis	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0011792	HP:0010614	Fibroma	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0011792	HP:0004390	Hamartomatous polyposis	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0011792	HP:0010614	Fibroma	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0011792	HP:0009792	Teratoma	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0011792	HP:0002884	Hepatoblastoma	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0011792	HP:0002884	Hepatoblastoma	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011792	HP:0009792	Teratoma	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011792	HP:0009792	Teratoma	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011792	HP:0007716	Uveal melanoma	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0011792	HP:0009731	Cerebral hamartoma	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011792	HP:0002884	Hepatoblastoma	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0011792	HP:0002884	Hepatoblastoma	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1			3
HP:0011792	HP:0006743	Embryonal rhabdomyosarcoma	2	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1	.		3
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0002884	Hepatoblastoma	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0011792	HP:0004390	Hamartomatous polyposis	2	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	.		504
HP:0011792	HP:0002884	Hepatoblastoma	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		617
HP:0011792	HP:0002884	Hepatoblastoma	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		87
HP:0011792	HP:0010614	Fibroma	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0011792	HP:0002884	Hepatoblastoma	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		1
HP:0011792	HP:0002884	Hepatoblastoma	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0011792	HP:0002884	Hepatoblastoma	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		47
HP:0011792	HP:0010614	Fibroma	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0011792	HP:0009731	Cerebral hamartoma	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0011792	HP:0010614	Fibroma	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1			315
HP:0011792	HP:0010614	Fibroma	2	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1			315
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis			315
HP:0011792	HP:0010614	Fibroma	2	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis			315
HP:0011792	HP:0002884	Hepatoblastoma	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		14
HP:0011792	HP:0009731	Cerebral hamartoma	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0011792	HP:0002884	Hepatoblastoma	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0010614	Fibroma	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0010614	Fibroma	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011792	HP:0010614	Fibroma	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011792	HP:0002669	Osteosarcoma	2	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3	.		62
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer			15
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SSX1 CL E G H	6756	11335	OMIM:300813	Sarcoma, synovial
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SSX2 CL E G H	6757	11336	OMIM:300813	Sarcoma, synovial
HP:0011792	HP:0001054	Numerous nevi	2	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.		740
HP:0011792	HP:0012056	Cutaneous melanoma	2	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.		740
HP:0011792	HP:0007716	Uveal melanoma	2	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.		740
HP:0011792	HP:0004390	Hamartomatous polyposis	2	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.		740
HP:0011792	HP:0009792	Teratoma	2	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.		740
HP:0011792	HP:0010614	Fibroma	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0004390	Hamartomatous polyposis	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0010614	Fibroma	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0011792	HP:0030448	Soft tissue sarcoma	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0011792	HP:0006765	Chondrosarcoma	2	TAF15 CL E G H	8148	11547	OMIM:612237	Chondrosarcoma, extraskeletal myxoid	.
HP:0011792	HP:0009731	Cerebral hamartoma	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0011792	HP:0010614	Fibroma	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0011792	HP:0009731	Cerebral hamartoma	2	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer			5
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0011792	HP:0009731	Cerebral hamartoma	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0011792	HP:0009731	Cerebral hamartoma	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer			911
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1			911
HP:0011792	HP:0002669	Osteosarcoma	2	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.		911
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome			911
HP:0011792	HP:0002669	Osteosarcoma	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		911
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.		911
HP:0011792	HP:0009919	Retinoblastoma	2	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma	.		911
HP:0011792	HP:0002669	Osteosarcoma	2	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma	.		911
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma			911
HP:0011792	HP:0002669	Osteosarcoma	2	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus			911
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011792	HP:0010614	Fibroma	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0010614	Fibroma	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0008696	Renal hamartoma	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0008696	Renal hamartoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0010614	Fibroma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0009731	Cerebral hamartoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0008696	Renal hamartoma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0009731	Cerebral hamartoma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0010614	Fibroma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0010614	Fibroma	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0008696	Renal hamartoma	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0009731	Cerebral hamartoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0010614	Fibroma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0008696	Renal hamartoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0008696	Renal hamartoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0010614	Fibroma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0009731	Cerebral hamartoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0030448	Soft tissue sarcoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0002669	Osteosarcoma	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0030448	Soft tissue sarcoma	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0010614	Fibroma	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0004390	Hamartomatous polyposis	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0011792	HP:0030670	Hamartoma of the orbital region	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0011792	HP:0009731	Cerebral hamartoma	2	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011792	HP:0002669	Osteosarcoma	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.		310
HP:0011792	HP:0012056	Cutaneous melanoma	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional		310
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome			177
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome			177
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome			177
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4			177
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1			177
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0011792	HP:0012056	Cutaneous melanoma	2	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.		86
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011792	HP:0011794	Embryonal renal neoplasm	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0011792	HP:0030061	Neuroectodermal neoplasm	2	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0011792	HP:0012057	Superficial spreading melanoma	3	CL E G H
HP:0011792	HP:0030785	Mediastinal cystic lymphangioma	3	CL E G H
HP:0011792	HP:0100881	Congenital mesoblastic nephroma	3	CL E G H
HP:0011792	HP:0030767	Epignathus	3	CL E G H
HP:0011792	HP:0100616	Testicular teratoma	3	CL E G H
HP:0011792	HP:0031495	Mucinous neoplasm	3	CL E G H
HP:0011792	HP:0030755	Craniofacial teratoma	3	CL E G H
HP:0011792	HP:0500091	Lymphangioma of the orbit	3	CL E G H
HP:0011792	HP:0011674	Cardiac teratoma	3	CL E G H
HP:0011792	HP:0030741	Mediastinal teratoma	3	CL E G H
HP:0011792	HP:0031227	Nasopharyngeal teratoma	3	CL E G H
HP:0011792	HP:0010616	Lung fibroma	3	CL E G H
HP:0011792	HP:0012058	Nodular melanoma	3	CL E G H
HP:0011792	HP:0010614	Fibroma	3	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0011792	HP:0000169	Gingival fibromatosis	3	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040281 - Very frequent		1
HP:0011792	HP:0000169	Gingival fibromatosis	3	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	.		1
HP:0011792	HP:0010614	Fibroma	3	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0011792	HP:0100243	Leiomyosarcoma	3	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer			54
HP:0011792	HP:0010615	Angiofibromas	3	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011792	HP:0010568	Hamartoma of the eye	3	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011792	HP:0010614	Fibroma	3	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0011792	HP:0010614	Fibroma	3	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0011792	HP:0010614	Fibroma	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0011792	HP:0001067	Neurofibromas	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0011792	HP:0010568	Hamartoma of the eye	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011792	HP:0002667	Nephroblastoma	3	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		132
HP:0011792	HP:0000169	Gingival fibromatosis	3	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.		49
HP:0011792	HP:0010614	Fibroma	3	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0011792	HP:0000169	Gingival fibromatosis	3	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040283 - Occasional		49
HP:0011792	HP:0010614	Fibroma	3	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0011792	HP:0010614	Fibroma	3	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	HP:0040283 - Occasional		3179
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	HP:0040283 - Occasional		3179
HP:0011792	HP:0100245	Desmoid tumors	3	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0100244	Fibrosarcoma	3	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0010614	Fibroma	3	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0100245	Desmoid tumors	3	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0100244	Fibrosarcoma	3	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0100243	Leiomyosarcoma	3	APC CL E G H	324	583	OMIM:114500	Colorectal cancer			3179
HP:0011792	HP:0010614	Fibroma	3	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary			3179
HP:0011792	HP:0100244	Fibrosarcoma	3	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary			3179
HP:0011792	HP:0100245	Desmoid tumors	3	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary	HP:0040281 - Very frequent	HP:0003593 - Infantile onset	3179
HP:0011792	HP:0010614	Fibroma	3	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		3179
HP:0011792	HP:0100244	Fibrosarcoma	3	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0011792	HP:0100245	Desmoid tumors	3	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		3179
HP:0011792	HP:0100245	Desmoid tumors	3	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0011792	HP:0100244	Fibrosarcoma	3	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011792	HP:0010614	Fibroma	3	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011792	HP:0010614	Fibroma	3	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0100245	Desmoid tumors	3	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional		3179
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0100244	Fibrosarcoma	3	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0011792	HP:0100245	Desmoid tumors	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0010614	Fibroma	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0100244	Fibrosarcoma	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011792	HP:0030736	Sacrococcygeal teratoma	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0011792	HP:0012218	Alveolar soft part sarcoma	3	ASPSCR1 CL E G H	79058	13825	OMIM:606243	Alveolar soft part sarcoma	.
HP:0011792	HP:0002667	Nephroblastoma	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040284 - Very rare		145
HP:0011792	HP:0000169	Gingival fibromatosis	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate		5
HP:0011792	HP:0010614	Fibroma	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0011792	HP:0100243	Leiomyosarcoma	3	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0100243	Leiomyosarcoma	3	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer			435
HP:0011792	HP:0010614	Fibroma	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0011792	HP:0001067	Neurofibromas	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0011792	HP:0011524	Iris melanoma	3	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		184
HP:0011792	HP:0012054	Choroidal melanoma	3	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		184
HP:0011792	HP:0012055	Ciliary body melanoma	3	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		184
HP:0011792	HP:0100243	Leiomyosarcoma	3	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer			4
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome			5
HP:0011792	HP:0002667	Nephroblastoma	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040284 - Very rare		314
HP:0011792	HP:0008643	Nephroblastomatosis	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0011792	HP:0100245	Desmoid tumors	3	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		385
HP:0011792	HP:0100244	Fibrosarcoma	3	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0011792	HP:0012198	Juvenile colonic polyposis	3	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent		385
HP:0011792	HP:0010614	Fibroma	3	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0011792	HP:0012198	Juvenile colonic polyposis	3	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2			385
HP:0011792	HP:0100243	Leiomyosarcoma	3	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer			276
HP:0011792	HP:0100697	Neurofibrosarcoma	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0011792	HP:0012059	Lentigo maligna melanoma	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3			7642
HP:0011792	HP:0002667	Nephroblastoma	3	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		7642
HP:0011792	HP:0002667	Nephroblastoma	3	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1	.		7642
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0100243	Leiomyosarcoma	3	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer			5
HP:0011792	HP:0002667	Nephroblastoma	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0011792	HP:0100243	Leiomyosarcoma	3	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer			76
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0011792	HP:0002667	Nephroblastoma	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0011792	HP:0002667	Nephroblastoma	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0011792	HP:0002667	Nephroblastoma	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0011792	HP:0010614	Fibroma	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		87
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011792	HP:0100243	Leiomyosarcoma	3	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0010568	Hamartoma of the eye	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0011792	HP:0010568	Hamartoma of the eye	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0011792	HP:0002667	Nephroblastoma	3	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.		169
HP:0011792	HP:0002667	Nephroblastoma	3	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040284 - Very rare		169
HP:0011792	HP:0010614	Fibroma	3	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent		169
HP:0011792	HP:0010614	Fibroma	3	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent		169
HP:0011792	HP:0002667	Nephroblastoma	3	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040284 - Very rare		169
HP:0011792	HP:0010615	Angiofibromas	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		2
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0000169	Gingival fibromatosis	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0011792	HP:0010614	Fibroma	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0010614	Fibroma	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0000169	Gingival fibromatosis	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0011792	HP:0010615	Angiofibromas	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		102
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0010614	Fibroma	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011792	HP:0010615	Angiofibromas	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0011792	HP:0006772	Renal angiomyolipoma	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0011792	HP:0006772	Renal angiomyolipoma	3	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.		102
HP:0011792	HP:0002667	Nephroblastoma	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		289
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome			289
HP:0011792	HP:0010614	Fibroma	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0000169	Gingival fibromatosis	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0011792	HP:0010615	Angiofibromas	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		1
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0000169	Gingival fibromatosis	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0010614	Fibroma	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0010615	Angiofibromas	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0011792	HP:0002667	Nephroblastoma	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0011792	HP:0100243	Leiomyosarcoma	3	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer			833
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		833
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2			833
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma			833
HP:0011792	HP:0100244	Fibrosarcoma	3	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent		373
HP:0011792	HP:0010614	Fibroma	3	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0011792	HP:0010614	Fibroma	3	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0011792	HP:0100243	Leiomyosarcoma	3	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer			88
HP:0011792	HP:0010614	Fibroma	3	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		88
HP:0011792	HP:0100244	Fibrosarcoma	3	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0011792	HP:0100245	Desmoid tumors	3	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		88
HP:0011792	HP:0011524	Iris melanoma	3	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		1
HP:0011792	HP:0012054	Choroidal melanoma	3	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		1
HP:0011792	HP:0012055	Ciliary body melanoma	3	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		1
HP:0011792	HP:0100243	Leiomyosarcoma	3	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer			36
HP:0011792	HP:0000169	Gingival fibromatosis	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0011792	HP:0010614	Fibroma	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0011792	HP:0002667	Nephroblastoma	3	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		2
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011792	HP:0002667	Nephroblastoma	3	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.		670
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB			670
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2			670
HP:0011792	HP:0002667	Nephroblastoma	3	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2			670
HP:0011792	HP:0002667	Nephroblastoma	3	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		164
HP:0011792	HP:0002667	Nephroblastoma	3	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0011792	HP:0002667	Nephroblastoma	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent		164
HP:0011792	HP:0008643	Nephroblastomatosis	3	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0011792	HP:0100243	Leiomyosarcoma	3	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer			11
HP:0011792	HP:0010568	Hamartoma of the eye	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0002667	Nephroblastoma	3	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		1
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome			67
HP:0011792	HP:0010614	Fibroma	3	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0011792	HP:0000169	Gingival fibromatosis	3	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040281 - Very frequent		3
HP:0011792	HP:0100243	Leiomyosarcoma	3	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer			250
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0011792	HP:0200058	Angiosarcoma	3	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional		3
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1			77
HP:0011792	HP:0002667	Nephroblastoma	3	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		102
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0011792	HP:0000169	Gingival fibromatosis	3	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0011792	HP:0010614	Fibroma	3	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0011792	HP:0000169	Gingival fibromatosis	3	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0011792	HP:0010614	Fibroma	3	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		59
HP:0011792	HP:0010614	Fibroma	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		37
HP:0011792	HP:0010614	Fibroma	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0011792	HP:0100243	Leiomyosarcoma	3	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer			145
HP:0011792	HP:0100243	Leiomyosarcoma	3	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer			301
HP:0011792	HP:0100243	Leiomyosarcoma	3	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer			301
HP:0011792	HP:0010568	Hamartoma of the eye	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0011792	HP:0002667	Nephroblastoma	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0011792	HP:0002667	Nephroblastoma	3	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	HP:0040283 - Occasional		2
HP:0011792	HP:0100243	Leiomyosarcoma	3	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011792	HP:0100243	Leiomyosarcoma	3	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer			332
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0011792	HP:0010614	Fibroma	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0011792	HP:0200058	Angiosarcoma	3	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040283 - Occasional		90
HP:0011792	HP:0100244	Fibrosarcoma	3	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional		20
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar			1
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011792	HP:0002667	Nephroblastoma	3	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		87
HP:0011792	HP:0009716	Subependymal nodules	3	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		115
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome			59
HP:0011792	HP:0200058	Angiosarcoma	3	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040283 - Occasional		37
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040280 - Obligate		270
HP:0011792	HP:0012055	Ciliary body melanoma	3	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		16
HP:0011792	HP:0011524	Iris melanoma	3	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		16
HP:0011792	HP:0012054	Choroidal melanoma	3	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		16
HP:0011792	HP:0011524	Iris melanoma	3	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		7
HP:0011792	HP:0012054	Choroidal melanoma	3	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		7
HP:0011792	HP:0012055	Ciliary body melanoma	3	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		7
HP:0011792	HP:0002667	Nephroblastoma	3	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		73
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011792	HP:0002667	Nephroblastoma	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0011792	HP:0002667	Nephroblastoma	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011792	HP:0002667	Nephroblastoma	3	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1	.		73
HP:0011792	HP:0002667	Nephroblastoma	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011792	HP:0002667	Nephroblastoma	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011792	HP:0002667	Nephroblastoma	3	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1	.
HP:0011792	HP:0010614	Fibroma	3	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0011792	HP:0100245	Desmoid tumors	3	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		9
HP:0011792	HP:0100244	Fibrosarcoma	3	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0011792	HP:0012198	Juvenile colonic polyposis	3	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent		9
HP:0011792	HP:0002667	Nephroblastoma	3	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional		4
HP:0011792	HP:0002667	Nephroblastoma	3	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		4
HP:0011792	HP:0002667	Nephroblastoma	3	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1	.		4
HP:0011792	HP:0002667	Nephroblastoma	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0011792	HP:0002667	Nephroblastoma	3	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1	.
HP:0011792	HP:0002667	Nephroblastoma	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0011792	HP:0030062	Craniopharyngioma	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0011792	HP:0002667	Nephroblastoma	3	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional		33
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011792	HP:0010615	Angiofibromas	3	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011792	HP:0010614	Fibroma	3	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011792	HP:0002667	Nephroblastoma	3	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1			15
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0011792	HP:0006772	Renal angiomyolipoma	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0011792	HP:0010615	Angiofibromas	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0011792	HP:0010568	Hamartoma of the eye	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0009716	Subependymal nodules	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent		23
HP:0011792	HP:0009717	Cortical tubers	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent		23
HP:0011792	HP:0100804	Ungual fibroma	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0011792	HP:0010614	Fibroma	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0010614	Fibroma	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0006772	Renal angiomyolipoma	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0010615	Angiofibromas	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0009716	Subependymal nodules	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0000169	Gingival fibromatosis	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011792	HP:0009717	Cortical tubers	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0010568	Hamartoma of the eye	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0009724	Subungual fibromas	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0002667	Nephroblastoma	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0011792	HP:0002667	Nephroblastoma	3	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional		9
HP:0011792	HP:0030062	Craniopharyngioma	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0011792	HP:0002667	Nephroblastoma	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0011792	HP:0002667	Nephroblastoma	3	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1	.		9
HP:0011792	HP:0010614	Fibroma	3	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011792	HP:0010614	Fibroma	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0011792	HP:0000169	Gingival fibromatosis	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate		13
HP:0011792	HP:0010614	Fibroma	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0011792	HP:0000169	Gingival fibromatosis	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0011792	HP:0000169	Gingival fibromatosis	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate		7
HP:0011792	HP:0010614	Fibroma	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0011792	HP:0002667	Nephroblastoma	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0011792	HP:0002667	Nephroblastoma	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0011792	HP:0002667	Nephroblastoma	3	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional		1
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		4
HP:0011792	HP:0010568	Hamartoma of the eye	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		167
HP:0011792	HP:0010614	Fibroma	3	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor			327
HP:0011792	HP:0001067	Neurofibromas	3	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.		327
HP:0011792	HP:0010614	Fibroma	3	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0010568	Hamartoma of the eye	3	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0010615	Angiofibromas	3	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0010615	Angiofibromas	3	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011792	HP:0010614	Fibroma	3	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0011792	HP:0010568	Hamartoma of the eye	3	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			100
HP:0011792	HP:0010568	Hamartoma of the eye	3	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			45
HP:0011792	HP:0010614	Fibroma	3	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0011792	HP:0010615	Angiofibromas	3	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0011792	HP:0001067	Neurofibromas	3	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040283 - Occasional		4
HP:0011792	HP:0010614	Fibroma	3	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011792	HP:0100697	Neurofibrosarcoma	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0011792	HP:0002667	Nephroblastoma	3	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		13
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011792	HP:0010568	Hamartoma of the eye	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		124
HP:0011792	HP:0100243	Leiomyosarcoma	3	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer			6
HP:0011792	HP:0010568	Hamartoma of the eye	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		1
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0011792	HP:0010615	Angiofibromas	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011792	HP:0010614	Fibroma	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011792	HP:0000169	Gingival fibromatosis	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0011792	HP:0010615	Angiofibromas	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		462
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0010614	Fibroma	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0011792	HP:0001067	Neurofibromas	3	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1	.		1819
HP:0011792	HP:0010614	Fibroma	3	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0010615	Angiofibromas	3	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011792	HP:0010615	Angiofibromas	3	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0011792	HP:0010614	Fibroma	3	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011792	HP:0010614	Fibroma	3	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0011792	HP:0100243	Leiomyosarcoma	3	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer			131
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0030736	Sacrococcygeal teratoma	3	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040281 - Very frequent		17
HP:0011792	HP:0030736	Sacrococcygeal teratoma	3	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome			17
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011792	HP:0010615	Angiofibromas	3	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011792	HP:0010615	Angiofibromas	3	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0011792	HP:0010614	Fibroma	3	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011792	HP:0010614	Fibroma	3	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4			5
HP:0011792	HP:0012226	Ovarian teratoma	3	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0004784	Juvenile gastrointestinal polyposis	3	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent		5
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0011792	HP:0010568	Hamartoma of the eye	3	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0010615	Angiofibromas	3	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0011792	HP:0010614	Fibroma	3	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0011792	HP:0100244	Fibrosarcoma	3	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0011792	HP:0006772	Renal angiomyolipoma	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional		706
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0011792	HP:0001067	Neurofibromas	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0010568	Hamartoma of the eye	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare		1952
HP:0011792	HP:0010614	Fibroma	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0100697	Neurofibrosarcoma	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0010568	Hamartoma of the eye	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0011792	HP:0010614	Fibroma	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0001067	Neurofibromas	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0100697	Neurofibrosarcoma	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0011792	HP:0030426	Ossifying fibroma	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare		1952
HP:0011792	HP:0010568	Hamartoma of the eye	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0010614	Fibroma	3	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0010568	Hamartoma of the eye	3	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0001067	Neurofibromas	3	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0100697	Neurofibrosarcoma	3	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0011792	HP:0010568	Hamartoma of the eye	3	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0001067	Neurofibromas	3	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0010614	Fibroma	3	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0010568	Hamartoma of the eye	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0010614	Fibroma	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0001067	Neurofibromas	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0001067	Neurofibromas	3	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.		1952
HP:0011792	HP:0010614	Fibroma	3	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011792	HP:0001067	Neurofibromas	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0011792	HP:0010614	Fibroma	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011792	HP:0010568	Hamartoma of the eye	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0011792	HP:0010614	Fibroma	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0001067	Neurofibromas	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0010568	Hamartoma of the eye	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0000169	Gingival fibromatosis	3	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		144
HP:0011792	HP:0010614	Fibroma	3	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		144
HP:0011792	HP:0002667	Nephroblastoma	3	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		48
HP:0011792	HP:0002667	Nephroblastoma	3	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		38
HP:0011792	HP:0100243	Leiomyosarcoma	3	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer			102
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		102
HP:0011792	HP:0010615	Angiofibromas	3	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011792	HP:0010614	Fibroma	3	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011792	HP:0030736	Sacrococcygeal teratoma	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		201
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011792	HP:0002667	Nephroblastoma	3	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	HP:0040283 - Occasional		1349
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar			59
HP:0011792	HP:0002667	Nephroblastoma	3	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent		194
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040283 - Occasional		13
HP:0011792	HP:0010614	Fibroma	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0012226	Ovarian teratoma	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0010614	Fibroma	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		1
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011792	HP:0010614	Fibroma	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011792	HP:0100244	Fibrosarcoma	3	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent		9
HP:0011792	HP:0010614	Fibroma	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0011792	HP:0001067	Neurofibromas	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0011792	HP:0010614	Fibroma	3	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		28
HP:0011792	HP:0000169	Gingival fibromatosis	3	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		28
HP:0011792	HP:0010614	Fibroma	3	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1	.		28
HP:0011792	HP:0100243	Leiomyosarcoma	3	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer			2
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0002667	Nephroblastoma	3	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		2
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome			86
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2			86
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome			86
HP:0011792	HP:0100243	Leiomyosarcoma	3	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer			162
HP:0011792	HP:0002667	Nephroblastoma	3	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0011792	HP:0010568	Hamartoma of the eye	3	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011792	HP:0010615	Angiofibromas	3	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011792	HP:0010614	Fibroma	3	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0011792	HP:0002667	Nephroblastoma	3	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040284 - Very rare		162
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0011792	HP:0002667	Nephroblastoma	3	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0011792	HP:0010614	Fibroma	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0011792	HP:0001067	Neurofibromas	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0011792	HP:0100243	Leiomyosarcoma	3	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0010614	Fibroma	3	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011792	HP:0010615	Angiofibromas	3	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9			23
HP:0011792	HP:0002667	Nephroblastoma	3	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		2
HP:0011792	HP:0002667	Nephroblastoma	3	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5	.		2
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011792	HP:0010614	Fibroma	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011792	HP:0012226	Ovarian teratoma	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040283 - Occasional		134
HP:0011792	HP:0010614	Fibroma	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0010614	Fibroma	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		10
HP:0011792	HP:0010614	Fibroma	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0010614	Fibroma	3	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0011792	HP:0010614	Fibroma	3	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0010618	Ovarian fibroma	3	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0004795	Hamartomatous stomach polyps	3	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.		665
HP:0011792	HP:0010617	Cardiac fibroma	3	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0002667	Nephroblastoma	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040283 - Occasional		665
HP:0011792	HP:0010618	Ovarian fibroma	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0011792	HP:0010617	Cardiac fibroma	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0011792	HP:0010614	Fibroma	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040283 - Occasional		665
HP:0011792	HP:0010617	Cardiac fibroma	3	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0004795	Hamartomatous stomach polyps	3	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.		40
HP:0011792	HP:0010614	Fibroma	3	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0010618	Ovarian fibroma	3	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0010615	Angiofibromas	3	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011792	HP:0010568	Hamartoma of the eye	3	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011792	HP:0010614	Fibroma	3	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0011792	HP:0010614	Fibroma	3	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011792	HP:0010614	Fibroma	3	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent		948
HP:0011792	HP:0010568	Hamartoma of the eye	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011792	HP:0100697	Neurofibrosarcoma	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011792	HP:0100243	Leiomyosarcoma	3	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer			1
HP:0011792	HP:0100243	Leiomyosarcoma	3	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer			3
HP:0011792	HP:0100243	Leiomyosarcoma	3	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer			2
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011792	HP:0010614	Fibroma	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0011792	HP:0010619	Fibroadenoma of the breast	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma			365
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA			365
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma			1
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011792	HP:0010614	Fibroma	3	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5			7
HP:0011792	HP:0000169	Gingival fibromatosis	3	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5	.		7
HP:0011792	HP:0000169	Gingival fibromatosis	3	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent		7
HP:0011792	HP:0010614	Fibroma	3	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis			7
HP:0011792	HP:0002667	Nephroblastoma	3	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		7
HP:0011792	HP:0002667	Nephroblastoma	3	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6			7
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0011792	HP:0010568	Hamartoma of the eye	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0011792	HP:0030426	Ossifying fibroma	3	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011792	HP:0010614	Fibroma	3	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy			181
HP:0011792	HP:0010568	Hamartoma of the eye	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0011792	HP:0010568	Hamartoma of the eye	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0011792	HP:0010614	Fibroma	3	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0011792	HP:0010568	Hamartoma of the eye	3	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011792	HP:0010615	Angiofibromas	3	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011792	HP:0010614	Fibroma	3	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor			237
HP:0011792	HP:0001067	Neurofibromas	3	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.		237
HP:0011792	HP:0010568	Hamartoma of the eye	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0011792	HP:0010614	Fibroma	3	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0011792	HP:0010568	Hamartoma of the eye	3	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011792	HP:0010615	Angiofibromas	3	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011792	HP:0010614	Fibroma	3	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor			147
HP:0011792	HP:0001067	Neurofibromas	3	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.		147
HP:0011792	HP:0010568	Hamartoma of the eye	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0011792	HP:0010614	Fibroma	3	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0011792	HP:0010568	Hamartoma of the eye	3	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011792	HP:0010615	Angiofibromas	3	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011792	HP:0010568	Hamartoma of the eye	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0011792	HP:0010615	Angiofibromas	3	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011792	HP:0010568	Hamartoma of the eye	3	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011792	HP:0010614	Fibroma	3	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0011792	HP:0030736	Sacrococcygeal teratoma	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0011792	HP:0030736	Sacrococcygeal teratoma	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011792	HP:0002667	Nephroblastoma	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0011792	HP:0030736	Sacrococcygeal teratoma	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011792	HP:0011524	Iris melanoma	3	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		19
HP:0011792	HP:0012054	Choroidal melanoma	3	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		19
HP:0011792	HP:0012055	Ciliary body melanoma	3	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		19
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1			3
HP:0011792	HP:0010568	Hamartoma of the eye	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0004784	Juvenile gastrointestinal polyposis	3	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0011792	HP:0010614	Fibroma	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0011792	HP:0001067	Neurofibromas	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0011792	HP:0010614	Fibroma	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0011792	HP:0001067	Neurofibromas	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0011792	HP:0010614	Fibroma	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0011792	HP:0001067	Neurofibromas	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0011792	HP:0000169	Gingival fibromatosis	3	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1	.		315
HP:0011792	HP:0010614	Fibroma	3	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1			315
HP:0011792	HP:0000169	Gingival fibromatosis	3	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent		315
HP:0011792	HP:0010614	Fibroma	3	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis			315
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0011792	HP:0002667	Nephroblastoma	3	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		109
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011792	HP:0001067	Neurofibromas	3	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0011792	HP:0010614	Fibroma	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0100245	Desmoid tumors	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0002667	Nephroblastoma	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0010614	Fibroma	3	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011792	HP:0100244	Fibrosarcoma	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0001067	Neurofibromas	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011792	HP:0010614	Fibroma	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011792	HP:0100243	Leiomyosarcoma	3	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer			15
HP:0011792	HP:0002667	Nephroblastoma	3	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		23
HP:0011792	HP:0012570	Synovial sarcoma	3	SSX1 CL E G H	6756	11335	OMIM:300813	Sarcoma, synovial	.
HP:0011792	HP:0012570	Synovial sarcoma	3	SSX2 CL E G H	6757	11336	OMIM:300813	Sarcoma, synovial	.
HP:0011792	HP:0004795	Hamartomatous stomach polyps	3	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.		124
HP:0011792	HP:0010618	Ovarian fibroma	3	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0010617	Cardiac fibroma	3	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0010614	Fibroma	3	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0010614	Fibroma	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0011792	HP:0001067	Neurofibromas	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		31
HP:0011792	HP:0010614	Fibroma	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0011792	HP:0001067	Neurofibromas	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0011792	HP:0100243	Leiomyosarcoma	3	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer			5
HP:0011792	HP:0010568	Hamartoma of the eye	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		45
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		61
HP:0011792	HP:0100243	Leiomyosarcoma	3	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer			911
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1			911
HP:0011792	HP:0002667	Nephroblastoma	3	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.		911
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		911
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma			911
HP:0011792	HP:0001067	Neurofibromas	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0011792	HP:0010614	Fibroma	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011792	HP:0002667	Nephroblastoma	3	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		2
HP:0011792	HP:0002667	Nephroblastoma	3	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011792	HP:0002667	Nephroblastoma	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0011792	HP:0002859	Rhabdomyosarcoma	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0011792	HP:0002667	Nephroblastoma	3	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	.		2
HP:0011792	HP:0002667	Nephroblastoma	3	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		2
HP:0011792	HP:0010614	Fibroma	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0100804	Ungual fibroma	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		1090
HP:0011792	HP:0010568	Hamartoma of the eye	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011792	HP:0006772	Renal angiomyolipoma	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		1090
HP:0011792	HP:0010614	Fibroma	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0006772	Renal angiomyolipoma	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0011792	HP:0010568	Hamartoma of the eye	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0009716	Subependymal nodules	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent		1090
HP:0011792	HP:0100804	Ungual fibroma	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0011792	HP:0010615	Angiofibromas	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0011792	HP:0009717	Cortical tubers	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent		1090
HP:0011792	HP:0009716	Subependymal nodules	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0009717	Cortical tubers	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0000169	Gingival fibromatosis	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0010614	Fibroma	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0009724	Subungual fibromas	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0010615	Angiofibromas	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0006772	Renal angiomyolipoma	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0010614	Fibroma	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0100804	Ungual fibroma	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		2738
HP:0011792	HP:0010568	Hamartoma of the eye	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011792	HP:0006772	Renal angiomyolipoma	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		2738
HP:0011792	HP:0009717	Cortical tubers	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent		2738
HP:0011792	HP:0010615	Angiofibromas	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0011792	HP:0006772	Renal angiomyolipoma	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0011792	HP:0010614	Fibroma	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0100804	Ungual fibroma	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0010568	Hamartoma of the eye	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0009716	Subependymal nodules	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent		2738
HP:0011792	HP:0009724	Subungual fibromas	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0010614	Fibroma	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0006772	Renal angiomyolipoma	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011792	HP:0010568	Hamartoma of the eye	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0009716	Subependymal nodules	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0009717	Cortical tubers	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0000169	Gingival fibromatosis	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0010615	Angiofibromas	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0010568	Hamartoma of the eye	3	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0010615	Angiofibromas	3	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0010614	Fibroma	3	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0002667	Nephroblastoma	3	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		2
HP:0011792	HP:0010568	Hamartoma of the eye	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0011792	HP:0010568	Hamartoma of the eye	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0011792	HP:0010568	Hamartoma of the eye	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0011792	HP:0002444	Hypothalamic hamartoma	3	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011792	HP:0012060	Acral lentiginous melanoma	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional		310
HP:0011792	HP:0002667	Nephroblastoma	3	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		177
HP:0011792	HP:0002667	Nephroblastoma	3	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome	HP:0040281 - Very frequent		177
HP:0011792	HP:0002667	Nephroblastoma	3	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.		177
HP:0011792	HP:0002667	Nephroblastoma	3	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040284 - Very rare		177
HP:0011792	HP:0002667	Nephroblastoma	3	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent		177
HP:0011792	HP:0002667	Nephroblastoma	3	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	.		177
HP:0011792	HP:0002667	Nephroblastoma	3	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1	.		177
HP:0011792	HP:0002667	Nephroblastoma	3	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent		177
HP:0011792	HP:0002667	Nephroblastoma	3	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		149
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011792	HP:0002667	Nephroblastoma	3	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		31
HP:0011792	HP:0030063	Neuroepithelial neoplasm	3	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0011792	HP:0031497	Mucinous colorectal carcinoma	4	CL E G H
HP:0011792	HP:0030737	Altman type I sacrococcygeal teratoma	4	CL E G H
HP:0011792	HP:0005220	Multiple intestinal neurofibromatosis	4	CL E G H
HP:0011792	HP:0031496	Mucinous cystic neoplasm of the pancreas	4	CL E G H
HP:0011792	HP:0011796	Perilobar nephroblastomatosis	4	CL E G H
HP:0011792	HP:0007576	Palmar neurofibromas	4	CL E G H
HP:0011792	HP:0500092	Orbital rhabdomyosarcoma	4	CL E G H
HP:0011792	HP:0011795	Intralobar nephroblastomatosis	4	CL E G H
HP:0011792	HP:0030064	Neurocytoma	4	CL E G H
HP:0011792	HP:0031494	Ovarian mucinous tumor	4	CL E G H
HP:0011792	HP:0034485	Neuroepithelial cyst	4	CL E G H
HP:0011792	HP:0006751	Paraspinal neurofibromas	4	CL E G H
HP:0011792	HP:0200059	Metastatic angiosarcoma	4	CL E G H
HP:0011792	HP:0031499	Appendiceal mucinous neoplasm	4	CL E G H
HP:0011792	HP:0010616	Lung fibroma	4	CL E G H
HP:0011792	HP:0030739	Altman type III sacrococcygeal teratoma	4	CL E G H
HP:0011792	HP:0025170	Neuronal/glioneuronal neoplasm of the central nervous system	4	CL E G H
HP:0011792	HP:0031498	Mucinous gastric carcinoma	4	CL E G H
HP:0011792	HP:0030738	Altman type II sacrococcygeal teratoma	4	CL E G H
HP:0011792	HP:0000169	Gingival fibromatosis	4	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040281 - Very frequent		1
HP:0011792	HP:0000169	Gingival fibromatosis	4	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	.		1
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer	.		54
HP:0011792	HP:0100780	Conjunctival hamartoma	4	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		54
HP:0011792	HP:0010615	Angiofibromas	4	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011792	HP:0009720	Adenoma sebaceum	4	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0011792	HP:0001067	Neurofibromas	4	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0011792	HP:0009594	Retinal hamartoma	4	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0011792	HP:0000169	Gingival fibromatosis	4	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.		49
HP:0011792	HP:0000169	Gingival fibromatosis	4	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040283 - Occasional		49
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	HP:0040283 - Occasional		3179
HP:0011792	HP:0100245	Desmoid tumors	4	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0009733	Glioma	4	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0100245	Desmoid tumors	4	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0009733	Glioma	4	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	APC CL E G H	324	583	OMIM:114500	Colorectal cancer	.		3179
HP:0011792	HP:0100245	Desmoid tumors	4	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary	HP:0040281 - Very frequent	HP:0003593 - Infantile onset	3179
HP:0011792	HP:0100245	Desmoid tumors	4	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		3179
HP:0011792	HP:0100245	Desmoid tumors	4	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0011792	HP:0009733	Glioma	4	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011792	HP:0100245	Desmoid tumors	4	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional		3179
HP:0011792	HP:0100245	Desmoid tumors	4	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0009733	Glioma	4	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0009733	Glioma	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0011792	HP:0000169	Gingival fibromatosis	4	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate		5
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer	.		1
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer	.		435
HP:0011792	HP:0001067	Neurofibromas	4	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer	.		4
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome			5
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0011792	HP:0009733	Glioma	4	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0011792	HP:0100245	Desmoid tumors	4	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		385
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer	.		276
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011792	HP:0009733	Glioma	4	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3			7642
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer	.		5
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer	.		76
HP:0011792	HP:0006743	Embryonal rhabdomyosarcoma	4	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		87
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer	.		1
HP:0011792	HP:0009594	Retinal hamartoma	4	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0011792	HP:0009594	Retinal hamartoma	4	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0011792	HP:0009733	Glioma	4	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011792	HP:0000169	Gingival fibromatosis	4	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0011792	HP:0010615	Angiofibromas	4	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		2
HP:0011792	HP:0000169	Gingival fibromatosis	4	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0011792	HP:0010615	Angiofibromas	4	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		102
HP:0011792	HP:0009733	Glioma	4	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011792	HP:0010615	Angiofibromas	4	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0011792	HP:0009733	Glioma	4	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0011792	HP:0009733	Glioma	4	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome			289
HP:0011792	HP:0009733	Glioma	4	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011792	HP:0000169	Gingival fibromatosis	4	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0011792	HP:0010615	Angiofibromas	4	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		1
HP:0011792	HP:0009733	Glioma	4	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011792	HP:0010615	Angiofibromas	4	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0011792	HP:0000169	Gingival fibromatosis	4	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer	.		833
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0011792	HP:0009733	Glioma	4	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0011792	HP:0009733	Glioma	4	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2			833
HP:0011792	HP:0009919	Retinoblastoma	4	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma	.		833
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer	.		88
HP:0011792	HP:0100245	Desmoid tumors	4	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		88
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer	.		36
HP:0011792	HP:0000169	Gingival fibromatosis	4	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011792	HP:0006779	Alveolar rhabdomyosarcoma	4	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare		670
HP:0011792	HP:0006743	Embryonal rhabdomyosarcoma	4	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2			670
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer	.		11
HP:0011792	HP:0009594	Retinal hamartoma	4	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome			67
HP:0011792	HP:0000169	Gingival fibromatosis	4	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040281 - Very frequent		3
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer	.		250
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0011792	HP:0009733	Glioma	4	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0011792	HP:0009733	Glioma	4	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1			77
HP:0011792	HP:0000169	Gingival fibromatosis	4	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0011792	HP:0000169	Gingival fibromatosis	4	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0011792	HP:0009733	Glioma	4	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		59
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		37
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer	.		145
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer	.		301
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	FH CL E G H	2271	3700	ORPHA:523	Hereditary leiomyomatosis and renal cell cancer	HP:0040283 - Occasional		301
HP:0011792	HP:0006755	Cutaneous leiomyosarcoma	4	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer	HP:0040283 - Occasional		301
HP:0011792	HP:0009594	Retinal hamartoma	4	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0011792	HP:0006755	Cutaneous leiomyosarcoma	4	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome			332
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer	.		332
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0011792	HP:0006779	Alveolar rhabdomyosarcoma	4	FOXO1 CL E G H	2308	3819	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.		1
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome			59
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011792	HP:0100245	Desmoid tumors	4	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		9
HP:0011792	HP:0010615	Angiofibromas	4	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011792	HP:0009720	Adenoma sebaceum	4	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011792	HP:0009733	Glioma	4	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1			15
HP:0011792	HP:0009733	Glioma	4	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0011792	HP:0009733	Glioma	4	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0011792	HP:0010615	Angiofibromas	4	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0011792	HP:0100804	Ungual fibroma	4	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0011792	HP:0009733	Glioma	4	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0009594	Retinal hamartoma	4	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0011792	HP:0009594	Retinal hamartoma	4	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0009720	Adenoma sebaceum	4	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011792	HP:0010615	Angiofibromas	4	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0000169	Gingival fibromatosis	4	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011792	HP:0009724	Subungual fibromas	4	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0009733	Glioma	4	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011792	HP:0000169	Gingival fibromatosis	4	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate		13
HP:0011792	HP:0000169	Gingival fibromatosis	4	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0011792	HP:0000169	Gingival fibromatosis	4	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate		7
HP:0011792	HP:0006779	Alveolar rhabdomyosarcoma	4	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011792	HP:0009594	Retinal hamartoma	4	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0011792	HP:0001067	Neurofibromas	4	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.		327
HP:0011792	HP:0100780	Conjunctival hamartoma	4	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		1
HP:0011792	HP:0010615	Angiofibromas	4	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0009720	Adenoma sebaceum	4	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0009720	Adenoma sebaceum	4	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0011792	HP:0010615	Angiofibromas	4	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011792	HP:0009733	Glioma	4	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0011792	HP:0100780	Conjunctival hamartoma	4	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional		100
HP:0011792	HP:0100780	Conjunctival hamartoma	4	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional		45
HP:0011792	HP:0009720	Adenoma sebaceum	4	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis	HP:0040281 - Very frequent		23
HP:0011792	HP:0010615	Angiofibromas	4	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0011792	HP:0001067	Neurofibromas	4	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040283 - Occasional		4
HP:0011792	HP:0009733	Glioma	4	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011792	HP:0009594	Retinal hamartoma	4	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer	.		6
HP:0011792	HP:0009594	Retinal hamartoma	4	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0011792	HP:0009733	Glioma	4	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0011792	HP:0010615	Angiofibromas	4	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011792	HP:0009720	Adenoma sebaceum	4	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0011792	HP:0000169	Gingival fibromatosis	4	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0011792	HP:0009733	Glioma	4	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011792	HP:0010615	Angiofibromas	4	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		462
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0011792	HP:0009733	Glioma	4	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0011792	HP:0009732	Plexiform neurofibroma	4	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0009733	Glioma	4	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0001067	Neurofibromas	4	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0009720	Adenoma sebaceum	4	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.		1819
HP:0011792	HP:0009720	Adenoma sebaceum	4	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent		1819
HP:0011792	HP:0010615	Angiofibromas	4	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0011792	HP:0010615	Angiofibromas	4	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer	.		131
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0011792	HP:0009733	Glioma	4	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0009793	Presacral teratoma	4	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.		17
HP:0011792	HP:0009733	Glioma	4	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0011792	HP:0009733	Glioma	4	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011792	HP:0010615	Angiofibromas	4	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0011792	HP:0010615	Angiofibromas	4	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0011792	HP:0009720	Adenoma sebaceum	4	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.		2162
HP:0011792	HP:0009720	Adenoma sebaceum	4	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent		2162
HP:0011792	HP:0009733	Glioma	4	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4			5
HP:0011792	HP:0025274	Ovarian dermoid cyst	4	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional		5
HP:0011792	HP:0009733	Glioma	4	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis			5
HP:0011792	HP:0009733	Glioma	4	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0011792	HP:0009737	Lisch nodules	4	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0009733	Glioma	4	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0010615	Angiofibromas	4	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0011792	HP:0009720	Adenoma sebaceum	4	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent		2232
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0011792	HP:0009733	Glioma	4	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0011792	HP:0009733	Glioma	4	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional		706
HP:0011792	HP:0007524	Atypical neurofibromatosis	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0011792	HP:0009737	Lisch nodules	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0011792	HP:0009732	Plexiform neurofibroma	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0011792	HP:0001067	Neurofibromas	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011792	HP:0009733	Glioma	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0011792	HP:0009594	Retinal hamartoma	4	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0011792	HP:0009735	Spinal neurofibromas	4	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0011792	HP:0100698	Subcutaneous neurofibromas	4	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0011792	HP:0030426	Ossifying fibroma	4	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare		1952
HP:0011792	HP:0009733	Glioma	4	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0009737	Lisch nodules	4	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0011792	HP:0001067	Neurofibromas	4	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011792	HP:0009732	Plexiform neurofibroma	4	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0009735	Spinal neurofibromas	4	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0001067	Neurofibromas	4	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0009737	Lisch nodules	4	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.		1952
HP:0011792	HP:0009735	Spinal neurofibromas	4	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0001067	Neurofibromas	4	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0009737	Lisch nodules	4	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0009733	Glioma	4	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0009732	Plexiform neurofibroma	4	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0009737	Lisch nodules	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0009733	Glioma	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0009732	Plexiform neurofibroma	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0001067	Neurofibromas	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0001067	Neurofibromas	4	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.		1952
HP:0011792	HP:0001067	Neurofibromas	4	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0011792	HP:0009733	Glioma	4	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare		220
HP:0011792	HP:0009594	Retinal hamartoma	4	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0011792	HP:0009594	Retinal hamartoma	4	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0009733	Glioma	4	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0001067	Neurofibromas	4	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0009595	Occasional neurofibromas	4	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	HP:0040283 - Occasional		220
HP:0011792	HP:0000169	Gingival fibromatosis	4	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		144
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer	.		102
HP:0011792	HP:0010615	Angiofibromas	4	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011792	HP:0009720	Adenoma sebaceum	4	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0011792	HP:0009733	Glioma	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011792	HP:0006779	Alveolar rhabdomyosarcoma	4	PAX3 CL E G H	5077	8617	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.		59
HP:0011792	HP:0006779	Alveolar rhabdomyosarcoma	4	PAX7 CL E G H	5081	8621	OMIM:268220	Rhabdomyosarcoma 2, alveolar	.
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040283 - Occasional		13
HP:0011792	HP:0025274	Ovarian dermoid cyst	4	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011792	HP:0001067	Neurofibromas	4	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0011792	HP:0000169	Gingival fibromatosis	4	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		28
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer	.		2
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome			86
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2			86
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome			86
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer	.		162
HP:0011792	HP:0010615	Angiofibromas	4	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011792	HP:0009720	Adenoma sebaceum	4	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0011792	HP:0100780	Conjunctival hamartoma	4	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		162
HP:0011792	HP:0009733	Glioma	4	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0011792	HP:0001067	Neurofibromas	4	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer	.		1
HP:0011792	HP:0010615	Angiofibromas	4	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0011792	HP:0009720	Adenoma sebaceum	4	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040281 - Very frequent		5
HP:0011792	HP:0009733	Glioma	4	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0011792	HP:0009733	Glioma	4	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0011792	HP:0009733	Glioma	4	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011792	HP:0009733	Glioma	4	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.		23
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040283 - Occasional		134
HP:0011792	HP:0025274	Ovarian dermoid cyst	4	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		10
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0011792	HP:0010618	Ovarian fibroma	4	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0010617	Cardiac fibroma	4	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011792	HP:0010617	Cardiac fibroma	4	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0011792	HP:0010618	Ovarian fibroma	4	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0011792	HP:0010617	Cardiac fibroma	4	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0010618	Ovarian fibroma	4	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011792	HP:0010615	Angiofibromas	4	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011792	HP:0009720	Adenoma sebaceum	4	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0011792	HP:0100780	Conjunctival hamartoma	4	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		948
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent		948
HP:0011792	HP:0009594	Retinal hamartoma	4	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer	.		1
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer	.		3
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer	.		2
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011792	HP:0010619	Fibroadenoma of the breast	4	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0011792	HP:0009919	Retinoblastoma	4	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent		365
HP:0011792	HP:0009919	Retinoblastoma	4	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma	.		365
HP:0011792	HP:0009919	Retinoblastoma	4	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.		365
HP:0011792	HP:0010799	Pinealoma	4	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.		365
HP:0011792	HP:0009733	Glioma	4	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma			1
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011792	HP:0000169	Gingival fibromatosis	4	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5	.		7
HP:0011792	HP:0000169	Gingival fibromatosis	4	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent		7
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0011792	HP:0009594	Retinal hamartoma	4	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0011792	HP:0009733	Glioma	4	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0011792	HP:0030426	Ossifying fibroma	4	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0011792	HP:0030427	Ossifying fibroma of the jaw	4	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy			181
HP:0011792	HP:0009594	Retinal hamartoma	4	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0011792	HP:0009594	Retinal hamartoma	4	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0011792	HP:0100780	Conjunctival hamartoma	4	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		237
HP:0011792	HP:0009720	Adenoma sebaceum	4	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0011792	HP:0010615	Angiofibromas	4	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011792	HP:0001067	Neurofibromas	4	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.		237
HP:0011792	HP:0009594	Retinal hamartoma	4	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0011792	HP:0100780	Conjunctival hamartoma	4	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		147
HP:0011792	HP:0009720	Adenoma sebaceum	4	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0011792	HP:0010615	Angiofibromas	4	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011792	HP:0001067	Neurofibromas	4	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.		147
HP:0011792	HP:0009594	Retinal hamartoma	4	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0011792	HP:0009720	Adenoma sebaceum	4	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0011792	HP:0100780	Conjunctival hamartoma	4	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		129
HP:0011792	HP:0010615	Angiofibromas	4	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011792	HP:0009594	Retinal hamartoma	4	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0011792	HP:0010615	Angiofibromas	4	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011792	HP:0009720	Adenoma sebaceum	4	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0011792	HP:0100780	Conjunctival hamartoma	4	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		60
HP:0011792	HP:0009733	Glioma	4	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0011792	HP:0009733	Glioma	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011792	HP:0009733	Glioma	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011792	HP:0006743	Embryonal rhabdomyosarcoma	4	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1	.		3
HP:0011792	HP:0009594	Retinal hamartoma	4	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0011792	HP:0001067	Neurofibromas	4	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0011792	HP:0001067	Neurofibromas	4	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0011792	HP:0009733	Glioma	4	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0011792	HP:0001067	Neurofibromas	4	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0011792	HP:0000169	Gingival fibromatosis	4	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1	.		315
HP:0011792	HP:0000169	Gingival fibromatosis	4	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent		315
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011792	HP:0001067	Neurofibromas	4	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0011792	HP:0100245	Desmoid tumors	4	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011792	HP:0001067	Neurofibromas	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer	.		15
HP:0011792	HP:0010618	Ovarian fibroma	4	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0010617	Cardiac fibroma	4	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011792	HP:0001067	Neurofibromas	4	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0011792	HP:0001067	Neurofibromas	4	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0011792	HP:0009733	Glioma	4	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer	.		5
HP:0011792	HP:0009594	Retinal hamartoma	4	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0011792	HP:0002891	Uterine leiomyosarcoma	4	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer	.		911
HP:0011792	HP:0009733	Glioma	4	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1			911
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0011792	HP:0009733	Glioma	4	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0011792	HP:0009919	Retinoblastoma	4	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma	.		911
HP:0011792	HP:0001067	Neurofibromas	4	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0011792	HP:0100804	Ungual fibroma	4	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		1090
HP:0011792	HP:0009594	Retinal hamartoma	4	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0011792	HP:0009594	Retinal hamartoma	4	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0011792	HP:0009733	Glioma	4	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0100804	Ungual fibroma	4	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0011792	HP:0010615	Angiofibromas	4	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0011792	HP:0009733	Glioma	4	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0000169	Gingival fibromatosis	4	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0009724	Subungual fibromas	4	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0010615	Angiofibromas	4	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011792	HP:0009720	Adenoma sebaceum	4	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0100804	Ungual fibroma	4	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		2738
HP:0011792	HP:0009594	Retinal hamartoma	4	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0011792	HP:0009733	Glioma	4	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0100804	Ungual fibroma	4	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0011792	HP:0009594	Retinal hamartoma	4	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0011792	HP:0010615	Angiofibromas	4	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0011792	HP:0009733	Glioma	4	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0000169	Gingival fibromatosis	4	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011792	HP:0009594	Retinal hamartoma	4	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0009720	Adenoma sebaceum	4	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011792	HP:0010615	Angiofibromas	4	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0009724	Subungual fibromas	4	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0010615	Angiofibromas	4	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011792	HP:0100780	Conjunctival hamartoma	4	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		1
HP:0011792	HP:0009720	Adenoma sebaceum	4	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0009594	Retinal hamartoma	4	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0011792	HP:0009594	Retinal hamartoma	4	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0011792	HP:0009594	Retinal hamartoma	4	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0011792	HP:0030065	Primitive neuroectodermal tumor	4	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011792	HP:0009733	Glioma	4	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0011792	HP:0033703	Dysembryoplastic neuroepithelial tumor	5	CL E G H
HP:0011792	HP:0007576	Palmar neurofibromas	5	CL E G H
HP:0011792	HP:0030694	Pineal parenchymal cell neoplasm	5	CL E G H
HP:0011792	HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	5	CL E G H
HP:0011792	HP:0033664	Ganglioglioma	5	CL E G H
HP:0011792	HP:0006751	Paraspinal neurofibromas	5	CL E G H
HP:0011792	HP:0030509	Retinal racemose hemangioma	5	CL E G H
HP:0011792	HP:0025171	Rosette-forming glioneuronal tumor	5	CL E G H
HP:0011792	HP:0030508	Retinal cavernous hemangioma	5	CL E G H
HP:0011792	HP:0005220	Multiple intestinal neurofibromatosis	5	CL E G H
HP:0011792	HP:0009720	Adenoma sebaceum	5	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0011792	HP:0009592	Astrocytoma	5	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.		3179
HP:0011792	HP:0009592	Astrocytoma	5	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0009592	Astrocytoma	5	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0011792	HP:0009592	Astrocytoma	5	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0002888	Ependymoma	5	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0012174	Glioblastoma multiforme	5	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0011792	HP:0009592	Astrocytoma	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome			5
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0011792	HP:0012174	Glioblastoma multiforme	5	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		385
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011792	HP:0009592	Astrocytoma	5	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.		7642
HP:0011792	HP:0012174	Glioblastoma multiforme	5	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.		7642
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent		1
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.		1
HP:0011792	HP:0002888	Ependymoma	5	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare		2
HP:0011792	HP:0002888	Ependymoma	5	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare		102
HP:0011792	HP:0030070	Central primitive neuroectodermal tumor	5	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		289
HP:0011792	HP:0002888	Ependymoma	5	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		289
HP:0011792	HP:0009592	Astrocytoma	5	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		289
HP:0011792	HP:0012174	Glioblastoma multiforme	5	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		289
HP:0011792	HP:0009592	Astrocytoma	5	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome	.		289
HP:0011792	HP:0002888	Ependymoma	5	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare		1
HP:0011792	HP:0002888	Ependymoma	5	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0011792	HP:0009592	Astrocytoma	5	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		833
HP:0011792	HP:0012174	Glioblastoma multiforme	5	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		833
HP:0011792	HP:0030070	Central primitive neuroectodermal tumor	5	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		833
HP:0011792	HP:0002888	Ependymoma	5	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		833
HP:0011792	HP:0030070	Central primitive neuroectodermal tumor	5	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter			670
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome			67
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0011792	HP:0012174	Glioblastoma multiforme	5	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		170
HP:0011792	HP:0012174	Glioblastoma multiforme	5	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.		77
HP:0011792	HP:0002888	Ependymoma	5	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.		77
HP:0011792	HP:0009592	Astrocytoma	5	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.		77
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0011792	HP:0012174	Glioblastoma multiforme	5	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		15
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		301
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040280 - Obligate		8
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome			59
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011792	HP:0009720	Adenoma sebaceum	5	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011792	HP:0002888	Ependymoma	5	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.		15
HP:0011792	HP:0012174	Glioblastoma multiforme	5	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.		15
HP:0011792	HP:0009592	Astrocytoma	5	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.		15
HP:0011792	HP:0009592	Astrocytoma	5	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		15
HP:0011792	HP:0009592	Astrocytoma	5	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional		29
HP:0011792	HP:0012778	Retinal astrocytic hamartoma	5	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		23
HP:0011792	HP:0009592	Astrocytoma	5	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011792	HP:0009592	Astrocytoma	5	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011792	HP:0009734	Optic nerve glioma	5	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011792	HP:0002888	Ependymoma	5	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011792	HP:0009720	Adenoma sebaceum	5	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011792	HP:0030070	Central primitive neuroectodermal tumor	5	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		202
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0011792	HP:0009720	Adenoma sebaceum	5	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0009720	Adenoma sebaceum	5	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0011792	HP:0012174	Glioblastoma multiforme	5	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		196
HP:0011792	HP:0009720	Adenoma sebaceum	5	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis	HP:0040281 - Very frequent		23
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		84
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		4
HP:0011792	HP:0012174	Glioblastoma multiforme	5	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		1
HP:0011792	HP:0030070	Central primitive neuroectodermal tumor	5	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		1
HP:0011792	HP:0002888	Ependymoma	5	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		1
HP:0011792	HP:0009592	Astrocytoma	5	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		1
HP:0011792	HP:0009720	Adenoma sebaceum	5	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0011792	HP:0002888	Ependymoma	5	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare		462
HP:0011792	HP:0012174	Glioblastoma multiforme	5	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1819
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0011792	HP:0012174	Glioblastoma multiforme	5	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0009592	Astrocytoma	5	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0002888	Ependymoma	5	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1	.		1819
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0009732	Plexiform neurofibroma	5	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0033681	Oligodendroglioma	5	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0009720	Adenoma sebaceum	5	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent		1819
HP:0011792	HP:0009720	Adenoma sebaceum	5	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.		1819
HP:0011792	HP:0012174	Glioblastoma multiforme	5	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		131
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0011792	HP:0012174	Glioblastoma multiforme	5	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2162
HP:0011792	HP:0012174	Glioblastoma multiforme	5	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011792	HP:0009720	Adenoma sebaceum	5	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.		2162
HP:0011792	HP:0009720	Adenoma sebaceum	5	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent		2162
HP:0011792	HP:0009592	Astrocytoma	5	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4	.		5
HP:0011792	HP:0009592	Astrocytoma	5	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent		5
HP:0011792	HP:0012174	Glioblastoma multiforme	5	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		2232
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0011792	HP:0012174	Glioblastoma multiforme	5	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0009592	Astrocytoma	5	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011792	HP:0009720	Adenoma sebaceum	5	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent		2232
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome
HP:0011792	HP:0007524	Atypical neurofibromatosis	5	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0011792	HP:0010796	Brainstem glioma	5	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0011792	HP:0010795	Cerebellar glioma	5	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0011792	HP:0009732	Plexiform neurofibroma	5	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0011792	HP:0009734	Optic nerve glioma	5	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		1952
HP:0011792	HP:0100698	Subcutaneous neurofibromas	5	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0011792	HP:0009735	Spinal neurofibromas	5	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0011792	HP:0009734	Optic nerve glioma	5	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0011792	HP:0009732	Plexiform neurofibroma	5	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0009735	Spinal neurofibromas	5	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011792	HP:0006851	Symmetric spinal nerve root neurofibromas	5	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.		1952
HP:0011792	HP:0009735	Spinal neurofibromas	5	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0009592	Astrocytoma	5	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0011792	HP:0009734	Optic nerve glioma	5	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0009732	Plexiform neurofibroma	5	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0009734	Optic nerve glioma	5	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0009732	Plexiform neurofibroma	5	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0002888	Ependymoma	5	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0011792	HP:0009592	Astrocytoma	5	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare		220
HP:0011792	HP:0009595	Occasional neurofibromas	5	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	HP:0040283 - Occasional		220
HP:0011792	HP:0009592	Astrocytoma	5	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	.		220
HP:0011792	HP:0002888	Ependymoma	5	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011792	HP:0009720	Adenoma sebaceum	5	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0011792	HP:0009592	Astrocytoma	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome			86
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2			86
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome			86
HP:0011792	HP:0009720	Adenoma sebaceum	5	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0011792	HP:0012174	Glioblastoma multiforme	5	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		162
HP:0011792	HP:0009720	Adenoma sebaceum	5	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040281 - Very frequent		5
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0011792	HP:0012174	Glioblastoma multiforme	5	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		56
HP:0011792	HP:0012174	Glioblastoma multiforme	5	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		1121
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0011792	HP:0009592	Astrocytoma	5	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011792	HP:0012174	Glioblastoma multiforme	5	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011792	HP:0009592	Astrocytoma	5	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.		23
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0009720	Adenoma sebaceum	5	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011792	HP:0002888	Ependymoma	5	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040280 - Obligate		1
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		572
HP:0011792	HP:0012174	Glioblastoma multiforme	5	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		1
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0011792	HP:0030427	Ossifying fibroma of the jaw	5	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy			181
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		304
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		55
HP:0011792	HP:0009720	Adenoma sebaceum	5	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		237
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4			237
HP:0011792	HP:0009720	Adenoma sebaceum	5	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		147
HP:0011792	HP:0009720	Adenoma sebaceum	5	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		129
HP:0011792	HP:0009720	Adenoma sebaceum	5	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0011792	HP:0012174	Glioblastoma multiforme	5	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent		48
HP:0011792	HP:0002888	Ependymoma	5	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0011792	HP:0009592	Astrocytoma	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011792	HP:0012174	Glioblastoma multiforme	5	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent		253
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		131
HP:0011792	HP:0002888	Ependymoma	5	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.		911
HP:0011792	HP:0012174	Glioblastoma multiforme	5	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.		911
HP:0011792	HP:0009592	Astrocytoma	5	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.		911
HP:0011792	HP:0002888	Ependymoma	5	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		911
HP:0011792	HP:0009592	Astrocytoma	5	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		911
HP:0011792	HP:0012174	Glioblastoma multiforme	5	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		911
HP:0011792	HP:0030070	Central primitive neuroectodermal tumor	5	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional		911
HP:0011792	HP:0009592	Astrocytoma	5	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011792	HP:0012778	Retinal astrocytic hamartoma	5	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		1090
HP:0011792	HP:0009592	Astrocytoma	5	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0009720	Adenoma sebaceum	5	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0002888	Ependymoma	5	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0009734	Optic nerve glioma	5	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011792	HP:0012778	Retinal astrocytic hamartoma	5	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare		2738
HP:0011792	HP:0009592	Astrocytoma	5	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011792	HP:0002888	Ependymoma	5	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011792	HP:0009734	Optic nerve glioma	5	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011792	HP:0009592	Astrocytoma	5	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011792	HP:0009720	Adenoma sebaceum	5	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011792	HP:0009720	Adenoma sebaceum	5	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional		490
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent		490
HP:0011792	HP:0009711	Retinal capillary hemangioma	5	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.		490
HP:0011792	HP:0030067	Peripheral primitive neuroectodermal neoplasm	5	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011792	HP:0002888	Ependymoma	5	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040280 - Obligate
HP:0011792	HP:0030407	Pineocytoma	6	CL E G H
HP:0011792	HP:0033680	Pilocytic astrocytoma	6	CL E G H
HP:0011792	HP:0030066	Ependymoblastoma	6	CL E G H
HP:0011792	HP:0030408	Pineoblastoma	6	CL E G H
HP:0011792	HP:0003006	Neuroblastoma	6	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0011792	HP:0003006	Neuroblastoma	6	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		15
HP:0011792	HP:0003006	Neuroblastoma	6	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		5
HP:0011792	HP:0003006	Neuroblastoma	6	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0011792	HP:0003006	Neuroblastoma	6	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		276
HP:0011792	HP:0003006	Neuroblastoma	6	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0011792	HP:0003006	Neuroblastoma	6	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0011792	HP:0030071	Medulloepithelioma	6	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare		670
HP:0011792	HP:0003006	Neuroblastoma	6	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		67
HP:0011792	HP:0003006	Neuroblastoma	6	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0011792	HP:0003006	Neuroblastoma	6	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0011792	HP:0003006	Neuroblastoma	6	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0011792	HP:0003006	Neuroblastoma	6	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		59
HP:0011792	HP:0003006	Neuroblastoma	6	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0011792	HP:0003006	Neuroblastoma	6	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0011792	HP:0003006	Neuroblastoma	6	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0011792	HP:0009718	Subependymal giant-cell astrocytoma	6	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0011792	HP:0009718	Subependymal giant-cell astrocytoma	6	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011792	HP:0003006	Neuroblastoma	6	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0011792	HP:0030071	Medulloepithelioma	6	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare
HP:0011792	HP:0003006	Neuroblastoma	6	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0011792	HP:0003006	Neuroblastoma	6	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0011792	HP:0003006	Neuroblastoma	6	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011792	HP:0003006	Neuroblastoma	6	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0011792	HP:0003006	Neuroblastoma	6	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0011792	HP:0003006	Neuroblastoma	6	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1	.		1819
HP:0011792	HP:0033682	Pleomorphic xanthoastrocytoma	6	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011792	HP:0003006	Neuroblastoma	6	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0011792	HP:0003006	Neuroblastoma	6	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011792	HP:0003006	Neuroblastoma	6	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0011792	HP:0003006	Neuroblastoma	6	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0011792	HP:0003006	Neuroblastoma	6	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional
HP:0011792	HP:0006851	Symmetric spinal nerve root neurofibromas	6	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.		1952
HP:0011792	HP:0003006	Neuroblastoma	6	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011792	HP:0003006	Neuroblastoma	6	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0011792	HP:0003006	Neuroblastoma	6	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0011792	HP:0003006	Neuroblastoma	6	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	HP:0040283 - Occasional		1349
HP:0011792	HP:0003006	Neuroblastoma	6	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011792	HP:0003006	Neuroblastoma	6	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0011792	HP:0003006	Neuroblastoma	6	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		86
HP:0011792	HP:0003006	Neuroblastoma	6	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome			86
HP:0011792	HP:0003006	Neuroblastoma	6	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2			86
HP:0011792	HP:0003006	Neuroblastoma	6	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		86
HP:0011792	HP:0003006	Neuroblastoma	6	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0011792	HP:0003006	Neuroblastoma	6	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0011792	HP:0003006	Neuroblastoma	6	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0011792	HP:0003006	Neuroblastoma	6	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0011792	HP:0003006	Neuroblastoma	6	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011792	HP:0003006	Neuroblastoma	6	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		291
HP:0011792	HP:0003006	Neuroblastoma	6	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		212
HP:0011792	HP:0003006	Neuroblastoma	6	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0011792	HP:0003006	Neuroblastoma	6	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		572
HP:0011792	HP:0003006	Neuroblastoma	6	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0011792	HP:0003006	Neuroblastoma	6	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy	.		181
HP:0011792	HP:0003006	Neuroblastoma	6	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	HP:0040283 - Occasional		237
HP:0011792	HP:0003006	Neuroblastoma	6	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0011792	HP:0003006	Neuroblastoma	6	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0011792	HP:0003006	Neuroblastoma	6	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0011792	HP:0003006	Neuroblastoma	6	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0011792	HP:0003006	Neuroblastoma	6	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0011792	HP:0009718	Subependymal giant-cell astrocytoma	6	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0011792	HP:0009718	Subependymal giant-cell astrocytoma	6	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0011792	HP:0009718	Subependymal giant-cell astrocytoma	6	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011792	HP:0003006	Neuroblastoma	6	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0011792	HP:0003006	Neuroblastoma	6	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1			14
HP:0011792	HP:0003006	Neuroblastoma	6	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011792	HP:0003006	Neuroblastoma	6	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0011792	HP:0030068	Olfactory esthesioneuroblastoma	7	CL E G H
HP:0011792	HP:0006742	Congenital neuroblastoma	7	CL E G H
HP:0011792	HP:0006747	Ganglioneuroblastoma	7	BDNF CL E G H	627	1033	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		5
HP:0011792	HP:0006747	Ganglioneuroblastoma	7	EDN3 CL E G H	1908	3178	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		67
HP:0011792	HP:0006747	Ganglioneuroblastoma	7	GDNF CL E G H	2668	4232	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		59
HP:0011792	HP:0006747	Ganglioneuroblastoma	7	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0011792	HP:0006768	Localized neuroblastoma	7	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0011792	HP:0006747	Ganglioneuroblastoma	7	MYO1H CL E G H	283446	13879	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional
HP:0011792	HP:0006747	Ganglioneuroblastoma	7	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0011792	HP:0006747	Ganglioneuroblastoma	7	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome	HP:0040281 - Very frequent		86
HP:0011792	HP:0006747	Ganglioneuroblastoma	7	PHOX2B CL E G H	8929	9143	OMIM:613013	Neuroblastoma, susceptibility to, 2			86
HP:0011792	HP:0006747	Ganglioneuroblastoma	7	PHOX2B CL E G H	8929	9143	ORPHA:661	Ondine syndrome	HP:0040283 - Occasional		86
HP:0011792	HP:0006768	Localized neuroblastoma	7	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0011792	HP:0006768	Localized neuroblastoma	7	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14

Genes (353) :AAGAB ABCA5 ACD ACTB ACVR1 ADA2 ADAMTS3 AKT1 ALX4 ANAPC1 ANTXR2 APC APC2 ARID1A ARID1B ARID2 ASCL1 ASPSCR1 ASXL1 ATP6V1B2 AURKA AXIN2 BAP1 BARD1 BAX BCL10 BDNF BLM BMPER BMPR1A BMPR1B BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1 BUB1B BUB3 CASP10 CASZ1 CCBE1 CCND1 CDC73 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CEP57 CHEK2 COL14A1 COL18A1 COL1A1 COL4A5 COL4A6 COL7A1 CPLANE1 CREB1 CTNNB1 CTSC CXCR4 CYSLTR2 DCC DDB2 DHCR24 DHX37 DICER1 DIS3L2 DKC1 DLC1 DLK1 DLST DMRT3 DPF2 DYNC2LI1 DZIP1L EDN3 ELMO2 EP300 EPCAM EPHB4 ERBB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 EWSR1 EXT1 EXT2 FAM149B1 FAM20A FAM20C FAN1 FAS FASLG FAT4 FGF3 FGFR3 FH FIBP FLCN FLI1 FLNA FLT4 FOXC2 FOXO1 GABRD GATA1 GATA4 GCDH GDF5 GDNF GJC2 GLI3 GNA11 GNAQ GNAS GPC3 GPC4 GREM1 H19 H19-ICR HDAC4 HEATR3 HRAS HSPG2 IDH1 IDH2 IFNG IGF2 IL6ST KANSL1 KCNAB2 KCNH1 KCNN3 KCNQ1 KCNQ1OT1 KEAP1 KIAA0753 KIF1B KIF7 KIT KLLN KRAS KRT1 KRT10 KRT17 LMNA LRP1 LRP5 LUZP1 MAN2C1 MAP2K1 MAP3K1 MAPRE2 MAX MBD4 MBTPS2 MC1R MCC MDH2 MDM2 MEG3 MEN1 MGMT MITF MLH1 MLH3 MMP1 MMP23B MNX1 MRE11 MSH2 MSH3 MSH6 MTAP MVK MYO1H NBN NEK9 NF1 NF2 NLRP1 NOTCH3 NR0B1 NR4A3 NR5A1 NRAS NSD1 NUTM1 OCA2 OFD1 PAK2 PALB2 PALLD PAX3 PAX6 PAX7 PCGF2 PDE11A PDE6D PDE8B PDGFB PDGFRA PDGFRB PDGFRL PDPN PERP PHF21A PHOX2B PIK3CA PKHD1 PLA2G2A PLCD1 PMS1 PMS2 POLD1 POLE POLH POT1 POU6F2 PRDM16 PRKACA PRKAR1A PRKCD PRKCZ PRLR PTCH1 PTCH2 PTEN PTH1R PTPN11 PTPN12 PTPRJ RABL3 RAD50 RAD51 RAD51C RAD51D RAD54B RAF1 RASGRP1 RB1 RECQL4 RELA RERE REST RET RNF43 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO1 RSPRY1 RTL1 RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEMA4A SETBP1 SETD2 SF3B1 SIX6 SKI SKIC2 SKIC3 SLC22A18 SLC25A11 SLC37A4 SLC6A17 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMO SOS1 SOX11 SOX2 SOX4 SOX9 SPEN SPRED1 SPTBN1 SQSTM1 SRC SRY SSX1 SSX2 STK11 SUFU TAF15 TCTN3 TERF2IP TERT TFAP2A TGFBR2 TIAM1 TLR2 TMEM127 TMEM216 TOPORS TP53 TRAF7 TRIM28 TRIM37 TRIP13 TRPV3 TSC1 TSC2 TSR2 TUBB TYMS TYR UBE4B USF3 VAMP7 VHL VPS16 WRN WT1 WWOX XPA XPC YY1 ZFPM2 ZFTA

Diseases (281) :ORPHA:79501 ORPHA:2026 OMIM:135400 ORPHA:618 ORPHA:64755 OMIM:135100 ORPHA:124 ORPHA:2136 OMIM:114500 ORPHA:201 OMIM:615109 ORPHA:2495 ORPHA:744 OMIM:176920 ORPHA:52022 ORPHA:221008 OMIM:228600 ORPHA:2028 OMIM:175100 ORPHA:247806 OMIM:135290 ORPHA:873 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:821 ORPHA:1465 ORPHA:99803 OMIM:606243 ORPHA:97297 ORPHA:3473 OMIM:606661 OMIM:614327 ORPHA:39044 ORPHA:145 OMIM:273300 ORPHA:661 ORPHA:125 OMIM:608022 ORPHA:440437 ORPHA:157794 ORPHA:79076 OMIM:610069 ORPHA:2098 OMIM:115150 OMIM:613707 OMIM:155600 OMIM:163950 OMIM:613706 ORPHA:500 ORPHA:1333 OMIM:613029 ORPHA:654 OMIM:194070 ORPHA:443167 ORPHA:1052 OMIM:257300 ORPHA:3261 ORPHA:1606 ORPHA:892 OMIM:193300 OMIM:145001 ORPHA:99880 ORPHA:143 OMIM:609048 ORPHA:652 ORPHA:276152 OMIM:610755 OMIM:130650 ORPHA:524 OMIM:155601 OMIM:155755 OMIM:606719 OMIM:609265 OMIM:259500 ORPHA:1571 ORPHA:31112 ORPHA:1018 ORPHA:79408 ORPHA:2754 OMIM:277170 OMIM:612160 ORPHA:678 ORPHA:51636 ORPHA:910 OMIM:278740 OMIM:602398 ORPHA:251510 ORPHA:276399 OMIM:618272 OMIM:601200 OMIM:180295 ORPHA:2849 OMIM:267000 OMIM:305000 ORPHA:96334 ORPHA:29072 OMIM:617088 ORPHA:731 ORPHA:3019 ORPHA:144 ORPHA:90186 OMIM:137800 OMIM:278730 ORPHA:220295 OMIM:610651 OMIM:278800 ORPHA:83469 OMIM:612219 OMIM:215300 OMIM:133700 ORPHA:321 OMIM:133701 OMIM:204690 ORPHA:1832 ORPHA:2791 OMIM:162900 ORPHA:523 OMIM:150800 ORPHA:500095 OMIM:617107 OMIM:135150 ORPHA:370348 OMIM:300244 ORPHA:88630 ORPHA:79452 ORPHA:33001 OMIM:268220 ORPHA:25 ORPHA:672 OMIM:146510 ORPHA:2762 ORPHA:373 OMIM:312870 ORPHA:2128 OMIM:194071 OMIM:180860 ORPHA:1001 OMIM:620072 OMIM:218040 ORPHA:2612 OMIM:137550 ORPHA:2874 ORPHA:163634 ORPHA:99646 ORPHA:296 ORPHA:805 OMIM:613254 OMIM:619750 ORPHA:363958 ORPHA:363965 OMIM:135500 OMIM:256700 ORPHA:44890 OMIM:606764 OMIM:615107 ORPHA:312 ORPHA:841 ORPHA:79474 ORPHA:79100 OMIM:259770 OMIM:619775 ORPHA:2505 OMIM:619975 OMIM:606660 ORPHA:659 ORPHA:626 ORPHA:79432 OMIM:131100 OMIM:614456 OMIM:276300 ORPHA:587 OMIM:158320 ORPHA:1552 OMIM:176450 OMIM:619096 OMIM:617100 ORPHA:480536 OMIM:619097 OMIM:112250 OMIM:260920 ORPHA:647 OMIM:251260 ORPHA:64754 ORPHA:97685 ORPHA:363700 OMIM:162210 OMIM:162200 OMIM:601321 OMIM:193520 ORPHA:637 OMIM:101000 OMIM:615225 ORPHA:2591 OMIM:612237 OMIM:249400 OMIM:311200 OMIM:610832 OMIM:194072 OMIM:618371 ORPHA:1359 ORPHA:189439 OMIM:228550 OMIM:209880 ORPHA:2151 OMIM:613013 OMIM:612918 OMIM:615108 ORPHA:276280 OMIM:602501 ORPHA:2387 OMIM:619101 OMIM:612591 OMIM:615083 ORPHA:90342 OMIM:278750 OMIM:616568 OMIM:615848 OMIM:601583 OMIM:615554 OMIM:109400 ORPHA:77301 ORPHA:109 OMIM:158350 ORPHA:65285 ORPHA:137608 OMIM:618680 ORPHA:1587 OMIM:180200 ORPHA:1225 ORPHA:221016 OMIM:268400 ORPHA:251636 OMIM:617626 ORPHA:2024 OMIM:616806 ORPHA:157798 OMIM:105650 OMIM:610644 ORPHA:457395 OMIM:601399 OMIM:115310 OMIM:269150 ORPHA:798 OMIM:206900 ORPHA:84064 OMIM:268210 OMIM:232240 ORPHA:457212 OMIM:175050 OMIM:241800 OMIM:135300 ORPHA:137605 OMIM:611431 OMIM:619475 OMIM:167250 OMIM:300813 OMIM:175200 ORPHA:2753 OMIM:615134 OMIM:113620 OMIM:619908 OMIM:151623 OMIM:260500 OMIM:253250 OMIM:617598 ORPHA:538 OMIM:191100 OMIM:156610 OMIM:620040 ORPHA:79434 OMIM:619291 ORPHA:902 OMIM:277700 OMIM:194080 ORPHA:220 ORPHA:347 OMIM:256370 OMIM:278700 OMIM:278720 ORPHA:506358

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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