Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease		135
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease		93
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease		192
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease		5
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I		272
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types		636
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1		670
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease		13
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease		67
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease		55
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease		77
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease		12
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome		332
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		9
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome		33
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome		33
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease		6
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4		51
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease		59
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GPR101 CL E G H	83550	14963	OMIM:300943	PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2		5
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		58
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	HABP2 CL E G H	3026	4798	OMIM:616535	Thyroid cancer, nonmedullary, 5		58
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2		113
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease		148
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome		121
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome		121
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma		462
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism		462
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		3
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1		51
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2		102
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease		4
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease		342
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease		106
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease		948
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome		948
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease		572
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	RET CL E G H	5979	9967	OMIM:155240	Thyroid carcinoma, familial medullary		572
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHA CL E G H	6389	10680	OMIM:614165	PARAGANGLIOMAS 5; PGL5		304
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2		55
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome		237
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHB CL E G H	6390	10681	OMIM:606864	Carney-Stratakis syndrome		237
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4		237
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome		147
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHC CL E G H	6391	10682	OMIM:606864	Carney-Stratakis syndrome		147
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHD CL E G H	6392	10683	OMIM:606864	Carney-Stratakis syndrome		129
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome		129
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease		2
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SLC25A11 CL E G H	8402	10981	OMIM:618464	PARAGANGLIOMAS 6; PGL6
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome		274
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome		274
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease		22
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3		155
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TP53 CL E G H	7157	11998	OMIM:202300	Adrenocortical carcinoma, pediatric		911
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma		7
HP:0100568	HP:0100568	Neoplasm of the endocrine system	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0100568	HP:0040192	APUdoma	1	CL E G H
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	135
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease		93
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	192
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease		5
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I		272
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types		636
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1		670
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	13
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	67
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	55
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome		170
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	77
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	12
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome		15
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome		332
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome		332
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		9
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4		9
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome		33
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome		33
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease		6
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia		1
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4		51
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	59
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	GPR101 CL E G H	83550	14963	OMIM:300943	PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2		5
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		58
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	HABP2 CL E G H	3026	4798	OMIM:616535	Thyroid cancer, nonmedullary, 5		58
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	HRAS CL E G H	3265	5173	OMIM:188470	Thyroid cancer, nonmedullary, 2		113
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease		148
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome		121
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome		121
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome		196
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040282 - Frequent	645
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	462
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	462
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma		462
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism		462
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		3
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MINPP1 CL E G H	9562	7102	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome		1819
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome		131
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome		2162
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome		2232
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1		51
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	NRAS CL E G H	4893	7989	OMIM:188470	Thyroid cancer, nonmedullary, 2		102
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	4
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome		162
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease		342
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease		106
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome		56
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome		1121
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent	948
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040283 - Occasional	948
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	572
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	RET CL E G H	5979	9967	OMIM:155240	Thyroid carcinoma, familial medullary		572
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X		1
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHA CL E G H	6389	10680	OMIM:614165	PARAGANGLIOMAS 5; PGL5		304
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2		55
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHB CL E G H	6390	10681	OMIM:606864	Carney-Stratakis syndrome		237
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome		237
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4		237
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4		237
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHC CL E G H	6391	10682	OMIM:606864	Carney-Stratakis syndrome		147
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome		147
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHD CL E G H	6392	10683	OMIM:606864	Carney-Stratakis syndrome		129
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome		129
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	1
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	2
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X		48
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	SLC25A11 CL E G H	8402	10981	OMIM:618464	PARAGANGLIOMAS 6; PGL6
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome		274
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome		274
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	22
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	1
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	SRGAP1 CL E G H	57522	17382	OMIM:188470	Thyroid cancer, nonmedullary, 2		3
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3		155
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome		253
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	TP53 CL E G H	7157	11998	OMIM:202300	Adrenocortical carcinoma, pediatric		911
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100568	HP:0100733	Neoplasm of the parathyroid gland	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0100568	HP:0100031	Neoplasm of the thyroid gland	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0100568	HP:0040277	Neoplasm of the pituitary gland	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma		7
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	7
HP:0100568	HP:0100634	Neuroendocrine neoplasm	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	7
HP:0100568	HP:0100631	Neoplasm of the adrenal gland	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0100568	HP:0030447	Merkel cell skin cancer	2	CL E G H
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0100568	HP:0040278	Prolactinoma	2	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0100568	HP:0002890	Thyroid carcinoma	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0100568	HP:0000854	Thyroid adenoma	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease		93
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100568	HP:0100570	Carcinoid tumor	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100568	HP:0002890	Thyroid carcinoma	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100568	HP:0002890	Thyroid carcinoma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100568	HP:0100570	Carcinoid tumor	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100568	HP:0002890	Thyroid carcinoma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100568	HP:0002890	Thyroid carcinoma	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100568	HP:0002890	Thyroid carcinoma	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0100568	HP:0002890	Thyroid carcinoma	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0100568	HP:0002890	Thyroid carcinoma	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0100568	HP:0100570	Carcinoid tumor	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040280 - Obligate	169
HP:0100568	HP:0002668	Paraganglioma	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease		5
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X		385
HP:0100568	HP:0002890	Thyroid carcinoma	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare	385
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040281 - Very frequent	276
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0100568	HP:0002890	Thyroid carcinoma	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0100568	HP:0000854	Thyroid adenoma	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0100568	HP:0002897	Parathyroid adenoma	2	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0100568	HP:0002668	Paraganglioma	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	1
HP:0100568	HP:0100642	Neoplasm of the adrenal medulla	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0100568	HP:0030405	Pancreatic endocrine tumor	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0100568	HP:0002666	Pheochromocytoma	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0100568	HP:0002668	Paraganglioma	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0100568	HP:0002666	Pheochromocytoma	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0100568	HP:0002897	Parathyroid adenoma	2	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0100568	HP:0002897	Parathyroid adenoma	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0100568	HP:0000854	Thyroid adenoma	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0100568	HP:0006780	Parathyroid carcinoma	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0100568	HP:0002890	Thyroid carcinoma	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040284 - Very rare	169
HP:0100568	HP:0002897	Parathyroid adenoma	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040280 - Obligate	169
HP:0100568	HP:0002890	Thyroid carcinoma	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040284 - Very rare	169
HP:0100568	HP:0006780	Parathyroid carcinoma	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040280 - Obligate	169
HP:0100568	HP:0006780	Parathyroid carcinoma	2	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma	.	169
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types		636
HP:0100568	HP:0100570	Carcinoid tumor	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0100568	HP:0006780	Parathyroid carcinoma	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0100568	HP:0002666	Pheochromocytoma	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0100568	HP:0030405	Pancreatic endocrine tumor	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0100568	HP:0002890	Thyroid carcinoma	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0100568	HP:0030405	Pancreatic endocrine tumor	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0100568	HP:0006780	Parathyroid carcinoma	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0100568	HP:0002890	Thyroid carcinoma	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100568	HP:0002666	Pheochromocytoma	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0100568	HP:0100570	Carcinoid tumor	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0100568	HP:0000854	Thyroid adenoma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100568	HP:0100570	Carcinoid tumor	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0100568	HP:0030405	Pancreatic endocrine tumor	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0100568	HP:0006780	Parathyroid carcinoma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0100568	HP:0002897	Parathyroid adenoma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040281 - Very frequent	102
HP:0100568	HP:0002897	Parathyroid adenoma	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0100568	HP:0100570	Carcinoid tumor	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.	102
HP:0100568	HP:0030405	Pancreatic endocrine tumor	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100568	HP:0002890	Thyroid carcinoma	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100568	HP:0002666	Pheochromocytoma	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0100568	HP:0002890	Thyroid carcinoma	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0100568	HP:0100570	Carcinoid tumor	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0100568	HP:0030405	Pancreatic endocrine tumor	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0100568	HP:0006780	Parathyroid carcinoma	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0100568	HP:0006780	Parathyroid carcinoma	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0100568	HP:0030405	Pancreatic endocrine tumor	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100568	HP:0002666	Pheochromocytoma	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0100568	HP:0100570	Carcinoid tumor	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0100568	HP:0002890	Thyroid carcinoma	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100568	HP:0002890	Thyroid carcinoma	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0100568	HP:0002897	Parathyroid adenoma	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040281 - Very frequent	88
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0100568	HP:0100641	Neoplasm of the adrenal cortex	2	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0100568	HP:0100570	Carcinoid tumor	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040280 - Obligate
HP:0100568	HP:0002668	Paraganglioma	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0100568	HP:0002890	Thyroid carcinoma	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare	670
HP:0100568	HP:0002890	Thyroid carcinoma	2	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1		670
HP:0100568	HP:0100642	Neoplasm of the adrenal medulla	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100568	HP:0002666	Pheochromocytoma	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0100568	HP:0002668	Paraganglioma	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040281 - Very frequent
HP:0100568	HP:0002666	Pheochromocytoma	2	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7	.
HP:0100568	HP:0002668	Paraganglioma	2	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7	.
HP:0100568	HP:0011750	Neoplasm of the anterior pituitary	2	DNAJB11 CL E