Human Phenotype Ontology

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:0010614	HP:0010614	Fibroma	0	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome			1
HP:0010614	HP:0010614	Fibroma	0	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia			1
HP:0010614	HP:0010614	Fibroma	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0010614	HP:0010614	Fibroma	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0010614	HP:0010614	Fibroma	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0010614	HP:0010614	Fibroma	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0010614	HP:0010614	Fibroma	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0010614	HP:0010614	Fibroma	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	HP:0040283 - Occasional		3179
HP:0010614	HP:0010614	Fibroma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0010614	HP:0010614	Fibroma	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary			3179
HP:0010614	HP:0010614	Fibroma	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		3179
HP:0010614	HP:0010614	Fibroma	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0010614	HP:0010614	Fibroma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0010614	HP:0010614	Fibroma	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0010614	HP:0010614	Fibroma	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0010614	HP:0010614	Fibroma	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0010614	HP:0010614	Fibroma	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome			385
HP:0010614	HP:0010614	Fibroma	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0010614	HP:0010614	Fibroma	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent		169
HP:0010614	HP:0010614	Fibroma	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent		169
HP:0010614	HP:0010614	Fibroma	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0010614	HP:0010614	Fibroma	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0010614	HP:0010614	Fibroma	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0010614	HP:0010614	Fibroma	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0010614	HP:0010614	Fibroma	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0010614	HP:0010614	Fibroma	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0010614	HP:0010614	Fibroma	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0010614	HP:0010614	Fibroma	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		88
HP:0010614	HP:0010614	Fibroma	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0010614	HP:0010614	Fibroma	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0010614	HP:0010614	Fibroma	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0010614	HP:0010614	Fibroma	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0010614	HP:0010614	Fibroma	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0010614	HP:0010614	Fibroma	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0010614	HP:0010614	Fibroma	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0010614	HP:0010614	Fibroma	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome			9
HP:0010614	HP:0010614	Fibroma	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0010614	HP:0010614	Fibroma	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0010614	HP:0010614	Fibroma	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0010614	HP:0010614	Fibroma	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0010614	HP:0010614	Fibroma	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0010614	HP:0010614	Fibroma	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0010614	HP:0010614	Fibroma	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0010614	HP:0010614	Fibroma	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor			327
HP:0010614	HP:0010614	Fibroma	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0010614	HP:0010614	Fibroma	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0010614	HP:0010614	Fibroma	0	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0010614	HP:0010614	Fibroma	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0010614	HP:0010614	Fibroma	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0010614	HP:0010614	Fibroma	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0010614	HP:0010614	Fibroma	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0010614	HP:0010614	Fibroma	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0010614	HP:0010614	Fibroma	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0010614	HP:0010614	Fibroma	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0010614	HP:0010614	Fibroma	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0010614	HP:0010614	Fibroma	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0010614	HP:0010614	Fibroma	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0010614	HP:0010614	Fibroma	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0010614	HP:0010614	Fibroma	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0010614	HP:0010614	Fibroma	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0010614	HP:0010614	Fibroma	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0010614	HP:0010614	Fibroma	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0010614	HP:0010614	Fibroma	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0010614	HP:0010614	Fibroma	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0010614	HP:0010614	Fibroma	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		144
HP:0010614	HP:0010614	Fibroma	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0010614	HP:0010614	Fibroma	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0010614	HP:0010614	Fibroma	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0010614	HP:0010614	Fibroma	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0010614	HP:0010614	Fibroma	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0010614	HP:0010614	Fibroma	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		28
HP:0010614	HP:0010614	Fibroma	0	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1	.		28
HP:0010614	HP:0010614	Fibroma	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0010614	HP:0010614	Fibroma	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0010614	HP:0010614	Fibroma	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0010614	HP:0010614	Fibroma	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0010614	HP:0010614	Fibroma	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0010614	HP:0010614	Fibroma	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0010614	HP:0010614	Fibroma	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0010614	HP:0010614	Fibroma	0	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0010614	HP:0010614	Fibroma	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0010614	HP:0010614	Fibroma	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0010614	HP:0010614	Fibroma	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0010614	HP:0010614	Fibroma	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0010614	HP:0010614	Fibroma	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0010614	HP:0010614	Fibroma	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0010614	HP:0010614	Fibroma	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0010614	HP:0010614	Fibroma	0	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5			7
HP:0010614	HP:0010614	Fibroma	0	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis			7
HP:0010614	HP:0010614	Fibroma	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0010614	HP:0010614	Fibroma	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0010614	HP:0010614	Fibroma	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor			237
HP:0010614	HP:0010614	Fibroma	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0010614	HP:0010614	Fibroma	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor			147
HP:0010614	HP:0010614	Fibroma	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0010614	HP:0010614	Fibroma	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0010614	HP:0010614	Fibroma	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0010614	HP:0010614	Fibroma	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0010614	HP:0010614	Fibroma	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0010614	HP:0010614	Fibroma	0	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1			315
HP:0010614	HP:0010614	Fibroma	0	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis			315
HP:0010614	HP:0010614	Fibroma	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0010614	HP:0010614	Fibroma	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0010614	HP:0010614	Fibroma	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010614	HP:0010614	Fibroma	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0010614	HP:0010614	Fibroma	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0010614	HP:0010614	Fibroma	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0010614	HP:0010614	Fibroma	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0010614	HP:0010614	Fibroma	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0010614	HP:0010614	Fibroma	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0010614	HP:0010614	Fibroma	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0010614	HP:0010614	Fibroma	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0010614	HP:0010614	Fibroma	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0010614	HP:0010614	Fibroma	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0010614	HP:0010614	Fibroma	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0010614	HP:0010616	Lung fibroma	1	CL E G H
HP:0010614	HP:0000169	Gingival fibromatosis	1	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040281 - Very frequent		1
HP:0010614	HP:0000169	Gingival fibromatosis	1	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	.		1
HP:0010614	HP:0010615	Angiofibromas	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0010614	HP:0001067	Neurofibromas	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0010614	HP:0000169	Gingival fibromatosis	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.		49
HP:0010614	HP:0000169	Gingival fibromatosis	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040283 - Occasional		49
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	HP:0040283 - Occasional		3179
HP:0010614	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0010614	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0010614	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary	HP:0040281 - Very frequent	HP:0003593 - Infantile onset	3179
HP:0010614	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		3179
HP:0010614	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0010614	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional		3179
HP:0010614	HP:0100245	Desmoid tumors	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0010614	HP:0000169	Gingival fibromatosis	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate		5
HP:0010614	HP:0001067	Neurofibromas	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0010614	HP:0100245	Desmoid tumors	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		385
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		87
HP:0010614	HP:0000169	Gingival fibromatosis	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0010614	HP:0010615	Angiofibromas	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		2
HP:0010614	HP:0000169	Gingival fibromatosis	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0010614	HP:0010615	Angiofibromas	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		102
HP:0010614	HP:0010615	Angiofibromas	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0010614	HP:0010615	Angiofibromas	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		1
HP:0010614	HP:0000169	Gingival fibromatosis	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0010614	HP:0000169	Gingival fibromatosis	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0010614	HP:0010615	Angiofibromas	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0010614	HP:0100245	Desmoid tumors	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		88
HP:0010614	HP:0000169	Gingival fibromatosis	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0010614	HP:0000169	Gingival fibromatosis	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040281 - Very frequent		3
HP:0010614	HP:0000169	Gingival fibromatosis	1	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome			16
HP:0010614	HP:0000169	Gingival fibromatosis	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent		35
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		59
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		37
HP:0010614	HP:0100245	Desmoid tumors	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		9
HP:0010614	HP:0010615	Angiofibromas	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0010614	HP:0100804	Ungual fibroma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0010614	HP:0010615	Angiofibromas	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0010614	HP:0000169	Gingival fibromatosis	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0010614	HP:0009724	Subungual fibromas	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0010614	HP:0010615	Angiofibromas	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0010614	HP:0000169	Gingival fibromatosis	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate		13
HP:0010614	HP:0000169	Gingival fibromatosis	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0010614	HP:0000169	Gingival fibromatosis	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate		7
HP:0010614	HP:0001067	Neurofibromas	1	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.		327
HP:0010614	HP:0010615	Angiofibromas	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0010614	HP:0010615	Angiofibromas	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0010614	HP:0010615	Angiofibromas	1	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis			23
HP:0010614	HP:0001067	Neurofibromas	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040283 - Occasional		4
HP:0010614	HP:0010615	Angiofibromas	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0010614	HP:0000169	Gingival fibromatosis	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0010614	HP:0010615	Angiofibromas	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent		462
HP:0010614	HP:0001067	Neurofibromas	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0010614	HP:0010615	Angiofibromas	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0010614	HP:0010615	Angiofibromas	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome			1819
HP:0010614	HP:0010615	Angiofibromas	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0010614	HP:0010615	Angiofibromas	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome			2162
HP:0010614	HP:0010615	Angiofibromas	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0010614	HP:0001067	Neurofibromas	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0010614	HP:0030426	Ossifying fibroma	1	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:0010614	HP:0001067	Neurofibromas	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0010614	HP:0001067	Neurofibromas	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0010614	HP:0001067	Neurofibromas	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0010614	HP:0001067	Neurofibromas	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0010614	HP:0001067	Neurofibromas	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.		1952
HP:0010614	HP:0001067	Neurofibromas	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0010614	HP:0001067	Neurofibromas	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0010614	HP:0000169	Gingival fibromatosis	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		144
HP:0010614	HP:0010615	Angiofibromas	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040283 - Occasional		13
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0010614	HP:0001067	Neurofibromas	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0010614	HP:0000169	Gingival fibromatosis	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent		28
HP:0010614	HP:0010615	Angiofibromas	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0010614	HP:0001067	Neurofibromas	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0010614	HP:0010615	Angiofibromas	1	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040283 - Occasional		134
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		10
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PRLR CL E G H	5618	9446	OMIM:615554	MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB			2
HP:0010614	HP:0010618	Ovarian fibroma	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0010614	HP:0010617	Cardiac fibroma	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0010614	HP:0010617	Cardiac fibroma	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0010614	HP:0010618	Ovarian fibroma	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0010614	HP:0010617	Cardiac fibroma	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0010614	HP:0010618	Ovarian fibroma	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0010614	HP:0010615	Angiofibromas	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent		948
HP:0010614	HP:0010619	Fibroadenoma of the breast	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0010614	HP:0000169	Gingival fibromatosis	1	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5	.		7
HP:0010614	HP:0000169	Gingival fibromatosis	1	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent		7
HP:0010614	HP:0030426	Ossifying fibroma	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0010614	HP:0010615	Angiofibromas	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0010614	HP:0001067	Neurofibromas	1	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.		237
HP:0010614	HP:0010615	Angiofibromas	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0010614	HP:0001067	Neurofibromas	1	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.		147
HP:0010614	HP:0010615	Angiofibromas	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0010614	HP:0010615	Angiofibromas	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0010614	HP:0001067	Neurofibromas	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0010614	HP:0001067	Neurofibromas	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0010614	HP:0001067	Neurofibromas	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0010614	HP:0000169	Gingival fibromatosis	1	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1	.		315
HP:0010614	HP:0000169	Gingival fibromatosis	1	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent		315
HP:0010614	HP:0001067	Neurofibromas	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.		136
HP:0010614	HP:0100245	Desmoid tumors	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0010614	HP:0001067	Neurofibromas	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010614	HP:0010618	Ovarian fibroma	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0010614	HP:0010617	Cardiac fibroma	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0010614	HP:0001067	Neurofibromas	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0010614	HP:0001067	Neurofibromas	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0010614	HP:0001067	Neurofibromas	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0010614	HP:0100804	Ungual fibroma	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		1090
HP:0010614	HP:0100804	Ungual fibroma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0010614	HP:0010615	Angiofibromas	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0010614	HP:0010615	Angiofibromas	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0010614	HP:0009724	Subungual fibromas	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0010614	HP:0000169	Gingival fibromatosis	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0010614	HP:0100804	Ungual fibroma	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		2738
HP:0010614	HP:0010615	Angiofibromas	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0010614	HP:0100804	Ungual fibroma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0010614	HP:0000169	Gingival fibromatosis	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0010614	HP:0010615	Angiofibromas	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0010614	HP:0009724	Subungual fibromas	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0010614	HP:0010615	Angiofibromas	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0010614	HP:0007576	Palmar neurofibromas	2	CL E G H
HP:0010614	HP:0006751	Paraspinal neurofibromas	2	CL E G H
HP:0010614	HP:0005220	Multiple intestinal neurofibromatosis	2	CL E G H
HP:0010614	HP:0009720	Adenoma sebaceum	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0010614	HP:0009720	Adenoma sebaceum	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0010614	HP:0009720	Adenoma sebaceum	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0010614	HP:0009720	Adenoma sebaceum	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0010614	HP:0009720	Adenoma sebaceum	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0010614	HP:0009720	Adenoma sebaceum	2	KRT17 CL E G H	3872	6427	ORPHA:841	Sebocystomatosis	HP:0040281 - Very frequent		23
HP:0010614	HP:0009720	Adenoma sebaceum	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0010614	HP:0009732	Plexiform neurofibroma	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0010614	HP:0009720	Adenoma sebaceum	2	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.		1819
HP:0010614	HP:0009720	Adenoma sebaceum	2	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent		1819
HP:0010614	HP:0009720	Adenoma sebaceum	2	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent		2162
HP:0010614	HP:0009720	Adenoma sebaceum	2	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.		2162
HP:0010614	HP:0009720	Adenoma sebaceum	2	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040281 - Very frequent		2232
HP:0010614	HP:0007524	Atypical neurofibromatosis	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0010614	HP:0009732	Plexiform neurofibroma	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0010614	HP:0009735	Spinal neurofibromas	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0010614	HP:0100698	Subcutaneous neurofibromas	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0010614	HP:0009732	Plexiform neurofibroma	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0010614	HP:0009735	Spinal neurofibromas	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0010614	HP:0009732	Plexiform neurofibroma	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0010614	HP:0009735	Spinal neurofibromas	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0010614	HP:0009732	Plexiform neurofibroma	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0010614	HP:0009595	Occasional neurofibromas	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	HP:0040283 - Occasional		220
HP:0010614	HP:0009720	Adenoma sebaceum	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0010614	HP:0009720	Adenoma sebaceum	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0010614	HP:0009720	Adenoma sebaceum	2	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040281 - Very frequent		5
HP:0010614	HP:0009720	Adenoma sebaceum	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0010614	HP:0030427	Ossifying fibroma of the jaw	2	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:0010614	HP:0009720	Adenoma sebaceum	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0010614	HP:0009720	Adenoma sebaceum	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0010614	HP:0009720	Adenoma sebaceum	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0010614	HP:0009720	Adenoma sebaceum	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0010614	HP:0009720	Adenoma sebaceum	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0010614	HP:0009720	Adenoma sebaceum	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0010614	HP:0009720	Adenoma sebaceum	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0010614	HP:0006851	Symmetric spinal nerve root neurofibromas	3	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.		1952