Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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Neoplasm of the endocrine system (HP:0100568)help
Term ID: 100568
Name: Neoplasm of the endocrine system
Synonym: Endocrine neoplasia
Definition: A tumor (abnormal growth of tissue) of the endocrine system.
Comments:
Reference: HP:0100568
Genes and Diseases:
 
       Child Nodes:
........expandAPUdoma (HP:0040192) help
................... HP:0030447 Merkel cell skin cancer
........expandNeoplasm of the pituitary gland (HP:0040277) help
................... HP:0011750 Neoplasm of the anterior pituitary
................... HP:0040278 Prolactinoma
........expandNeoplasm of the thyroid gland (HP:0100031) help
................... HP:0000854 Thyroid adenoma
................... HP:0002890 Thyroid carcinoma
........expandNeoplasm of the adrenal gland (HP:0100631) help
................... HP:0100641 Neoplasm of the adrenal cortex
................... HP:0100642 Neoplasm of the adrenal medulla
........expandNeuroendocrine neoplasm (HP:0100634) help
................... HP:0002666 Pheochromocytoma
................... HP:0002668 Paraganglioma
................... HP:0030405 Pancreatic endocrine tumor
................... HP:0100570 Carcinoid tumor
........expandNeoplasm of the parathyroid gland (HP:0100733) help
................... HP:0002897 Parathyroid adenoma
................... HP:0006780 Parathyroid carcinoma

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100568HP:0100568Neoplasm of the endocrine system0ABCD1 CL E G H21561ORPHA:388Hirschsprung disease135
HP:0100568HP:0100568Neoplasm of the endocrine system0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0100568HP:0100568Neoplasm of the endocrine system0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0100568HP:0100568Neoplasm of the endocrine system0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0100568HP:0100568Neoplasm of the endocrine system0AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0100568HP:0100568Neoplasm of the endocrine system0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0100568HP:0100568Neoplasm of the endocrine system0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0100568HP:0100568Neoplasm of the endocrine system0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0100568HP:0100568Neoplasm of the endocrine system0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney disease
HP:0100568HP:0100568Neoplasm of the endocrine system0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney disease93
HP:0100568HP:0100568Neoplasm of the endocrine system0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100568HP:0100568Neoplasm of the endocrine system0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100568HP:0100568Neoplasm of the endocrine system0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100568HP:0100568Neoplasm of the endocrine system0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0100568HP:0100568Neoplasm of the endocrine system0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0100568HP:0100568Neoplasm of the endocrine system0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0100568HP:0100568Neoplasm of the endocrine system0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0100568HP:0100568Neoplasm of the endocrine system0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0100568HP:0100568Neoplasm of the endocrine system0ATP7A CL E G H538869ORPHA:388Hirschsprung disease192
HP:0100568HP:0100568Neoplasm of the endocrine system0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0100568HP:0100568Neoplasm of the endocrine system0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0100568HP:0100568Neoplasm of the endocrine system0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0100568HP:0100568Neoplasm of the endocrine system0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney disease5
HP:0100568HP:0100568Neoplasm of the endocrine system0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type X385
HP:0100568HP:0100568Neoplasm of the endocrine system0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0100568HP:0100568Neoplasm of the endocrine system0BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0100568HP:0100568Neoplasm of the endocrine system0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0100568HP:0100568Neoplasm of the endocrine system0CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0100568HP:0100568Neoplasm of the endocrine system0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0100568HP:0100568Neoplasm of the endocrine system0CASR CL E G H8461514OMIM:145980Hypocalciuric hypercalcemia, familial, type I272
HP:0100568HP:0100568Neoplasm of the endocrine system0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100568HP:0100568Neoplasm of the endocrine system0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100568HP:0100568Neoplasm of the endocrine system0CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidism169
HP:0100568HP:0100568Neoplasm of the endocrine system0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2169
HP:0100568HP:0100568Neoplasm of the endocrine system0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0100568HP:0100568Neoplasm of the endocrine system0CDC73 CL E G H7957716783OMIM:608266Parathyroid carcinoma169
HP:0100568HP:0100568Neoplasm of the endocrine system0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0100568HP:0100568Neoplasm of the endocrine system0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0100568HP:0100568Neoplasm of the endocrine system0CDH23 CL E G H6407213733OMIM:617540Pituitary adenoma 5, multiple types636
HP:0100568HP:0100568Neoplasm of the endocrine system0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100568HP:0100568Neoplasm of the endocrine system0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100568HP:0100568Neoplasm of the endocrine system0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100568HP:0100568Neoplasm of the endocrine system0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100568HP:0100568Neoplasm of the endocrine system0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0100568HP:0100568Neoplasm of the endocrine system0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0100568HP:0100568Neoplasm of the endocrine system0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0100568HP:0100568Neoplasm of the endocrine system0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100568HP:0100568Neoplasm of the endocrine system0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100568HP:0100568Neoplasm of the endocrine system0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0100568HP:0100568Neoplasm of the endocrine system0CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type II44
HP:0100568HP:0100568Neoplasm of the endocrine system0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0100568HP:0100568Neoplasm of the endocrine system0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0100568HP:0100568Neoplasm of the endocrine system0CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0100568HP:0100568Neoplasm of the endocrine system0CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type I112
HP:0100568HP:0100568Neoplasm of the endocrine system0CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type I73
HP:0100568HP:0100568Neoplasm of the endocrine system0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0100568HP:0100568Neoplasm of the endocrine system0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100568HP:0100568Neoplasm of the endocrine system0DICER1 CL E G H2340517098OMIM:138800Goiter, multinodular 1670
HP:0100568HP:0100568Neoplasm of the endocrine system0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100568HP:0100568Neoplasm of the endocrine system0DLST CL E G H17432911OMIM:618475Paragangliomas 7
HP:0100568HP:0100568Neoplasm of the endocrine system0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney disease
HP:0100568HP:0100568Neoplasm of the endocrine system0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0100568HP:0100568Neoplasm of the endocrine system0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0100568HP:0100568Neoplasm of the endocrine system0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0100568HP:0100568Neoplasm of the endocrine system0ECE1 CL E G H18893146ORPHA:388Hirschsprung disease13
HP:0100568HP:0100568Neoplasm of the endocrine system0EDN3 CL E G H19083178ORPHA:388Hirschsprung disease67
HP:0100568HP:0100568Neoplasm of the endocrine system0EDNRB CL E G H19103180ORPHA:388Hirschsprung disease55
HP:0100568HP:0100568Neoplasm of the endocrine system0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0100568HP:0100568Neoplasm of the endocrine system0EPCAM CL E G H407211529ORPHA:144Lynch syndrome170
HP:0100568HP:0100568Neoplasm of the endocrine system0ERBB2 CL E G H20643430ORPHA:388Hirschsprung disease77
HP:0100568HP:0100568Neoplasm of the endocrine system0ERBB3 CL E G H20653431ORPHA:388Hirschsprung disease12
HP:0100568HP:0100568Neoplasm of the endocrine system0FAN1 CL E G H2290929170ORPHA:144Lynch syndrome15
HP:0100568HP:0100568Neoplasm of the endocrine system0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0100568HP:0100568Neoplasm of the endocrine system0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0100568HP:0100568Neoplasm of the endocrine system0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0100568HP:0100568Neoplasm of the endocrine system0FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndrome332
HP:0100568HP:0100568Neoplasm of the endocrine system0FOXE1 CL E G H23043806ORPHA:319487Familial papillary or follicular thyroid carcinoma9
HP:0100568HP:0100568Neoplasm of the endocrine system0FOXE1 CL E G H23043806OMIM:616534Thyroid cancer, nonmedullary, 49
HP:0100568HP:0100568Neoplasm of the endocrine system0FOXI1 CL E G H22993815ORPHA:705Pendred syndrome33
HP:0100568HP:0100568Neoplasm of the endocrine system0FOXI1 CL E G H22993815OMIM:274600Pendred syndrome33
HP:0100568HP:0100568Neoplasm of the endocrine system0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney disease6
HP:0100568HP:0100568Neoplasm of the endocrine system0GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemia1
HP:0100568HP:0100568Neoplasm of the endocrine system0GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidism51
HP:0100568HP:0100568Neoplasm of the endocrine system0GCM2 CL E G H92474198OMIM:617343Hyperparathyroidism 451
HP:0100568HP:0100568Neoplasm of the endocrine system0GDNF CL E G H26684232ORPHA:388Hirschsprung disease59
HP:0100568HP:0100568Neoplasm of the endocrine system0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0100568HP:0100568Neoplasm of the endocrine system0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic101
HP:0100568HP:0100568Neoplasm of the endocrine system0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0100568HP:0100568Neoplasm of the endocrine system0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0100568HP:0100568Neoplasm of the endocrine system0GPR101 CL E G H8355014963OMIM:300943PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA25
HP:0100568HP:0100568Neoplasm of the endocrine system0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0100568HP:0100568Neoplasm of the endocrine system0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0100568HP:0100568Neoplasm of the endocrine system0HABP2 CL E G H30264798ORPHA:319487Familial papillary or follicular thyroid carcinoma58
HP:0100568HP:0100568Neoplasm of the endocrine system0HABP2 CL E G H30264798OMIM:616535Thyroid cancer, nonmedullary, 558
HP:0100568HP:0100568Neoplasm of the endocrine system0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0100568HP:0100568Neoplasm of the endocrine system0HRAS CL E G H32655173OMIM:188470Thyroid cancer, nonmedullary, 2113
HP:0100568HP:0100568Neoplasm of the endocrine system0IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0100568HP:0100568Neoplasm of the endocrine system0IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0100568HP:0100568Neoplasm of the endocrine system0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100568HP:0100568Neoplasm of the endocrine system0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney disease148
HP:0100568HP:0100568Neoplasm of the endocrine system0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0100568HP:0100568Neoplasm of the endocrine system0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0100568HP:0100568Neoplasm of the endocrine system0KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysis73
HP:0100568HP:0100568Neoplasm of the endocrine system0KCNJ10 CL E G H37666256ORPHA:705Pendred syndrome121
HP:0100568HP:0100568Neoplasm of the endocrine system0KCNJ10 CL E G H37666256OMIM:274600Pendred syndrome121
HP:0100568HP:0100568Neoplasm of the endocrine system0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0100568HP:0100568Neoplasm of the endocrine system0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0100568HP:0100568Neoplasm of the endocrine system0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0100568HP:0100568Neoplasm of the endocrine system0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100568HP:0100568Neoplasm of the endocrine system0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0100568HP:0100568Neoplasm of the endocrine system0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0100568HP:0100568Neoplasm of the endocrine system0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0100568HP:0100568Neoplasm of the endocrine system0KRAS CL E G H38456407ORPHA:144Lynch syndrome196
HP:0100568HP:0100568Neoplasm of the endocrine system0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0100568HP:0100568Neoplasm of the endocrine system0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0100568HP:0100568Neoplasm of the endocrine system0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0100568HP:0100568Neoplasm of the endocrine system0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0100568HP:0100568Neoplasm of the endocrine system0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0100568HP:0100568Neoplasm of the endocrine system0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0100568HP:0100568Neoplasm of the endocrine system0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0100568HP:0100568Neoplasm of the endocrine system0MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidism462
HP:0100568HP:0100568Neoplasm of the endocrine system0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0100568HP:0100568Neoplasm of the endocrine system0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100568HP:0100568Neoplasm of the endocrine system0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100568HP:0100568Neoplasm of the endocrine system0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0100568HP:0100568Neoplasm of the endocrine system0MINPP1 CL E G H95627102ORPHA:319487Familial papillary or follicular thyroid carcinoma3
HP:0100568HP:0100568Neoplasm of the endocrine system0MINPP1 CL E G H95627102OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0100568HP:0100568Neoplasm of the endocrine system0MLH1 CL E G H42927127ORPHA:144Lynch syndrome1819
HP:0100568HP:0100568Neoplasm of the endocrine system0MLH3 CL E G H270307128ORPHA:144Lynch syndrome131
HP:0100568HP:0100568Neoplasm of the endocrine system0MSH2 CL E G H44367325ORPHA:144Lynch syndrome2162
HP:0100568HP:0100568Neoplasm of the endocrine system0MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 45
HP:0100568HP:0100568Neoplasm of the endocrine system0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposis5
HP:0100568HP:0100568Neoplasm of the endocrine system0MSH6 CL E G H29567329ORPHA:144Lynch syndrome2232
HP:0100568HP:0100568Neoplasm of the endocrine system0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0100568HP:0100568Neoplasm of the endocrine system0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0100568HP:0100568Neoplasm of the endocrine system0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100568HP:0100568Neoplasm of the endocrine system0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0100568HP:0100568Neoplasm of the endocrine system0NKX2-1 CL E G H708011825OMIM:188550Thyroid cancer, nonmedullary, 151
HP:0100568HP:0100568Neoplasm of the endocrine system0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0100568HP:0100568Neoplasm of the endocrine system0NRAS CL E G H48937989OMIM:188470Thyroid cancer, nonmedullary, 2102
HP:0100568HP:0100568Neoplasm of the endocrine system0NRTN CL E G H49028007ORPHA:388Hirschsprung disease4
HP:0100568HP:0100568Neoplasm of the endocrine system0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100568HP:0100568Neoplasm of the endocrine system0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100568HP:0100568Neoplasm of the endocrine system0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100568HP:0100568Neoplasm of the endocrine system0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0100568HP:0100568Neoplasm of the endocrine system0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0100568HP:0100568Neoplasm of the endocrine system0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0100568HP:0100568Neoplasm of the endocrine system0PIK3CA CL E G H52908975ORPHA:144Lynch syndrome162
HP:0100568HP:0100568Neoplasm of the endocrine system0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0100568HP:0100568Neoplasm of the endocrine system0PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney disease342
HP:0100568HP:0100568Neoplasm of the endocrine system0PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney disease106
HP:0100568HP:0100568Neoplasm of the endocrine system0PMS1 CL E G H53789121ORPHA:144Lynch syndrome56
HP:0100568HP:0100568Neoplasm of the endocrine system0PMS2 CL E G H53959122ORPHA:144Lynch syndrome1121
HP:0100568HP:0100568Neoplasm of the endocrine system0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100568HP:0100568Neoplasm of the endocrine system0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0100568HP:0100568Neoplasm of the endocrine system0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100568HP:0100568Neoplasm of the endocrine system0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0100568HP:0100568Neoplasm of the endocrine system0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100568HP:0100568Neoplasm of the endocrine system0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0100568HP:0100568Neoplasm of the endocrine system0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0100568HP:0100568Neoplasm of the endocrine system0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0100568HP:0100568Neoplasm of the endocrine system0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0100568HP:0100568Neoplasm of the endocrine system0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0100568HP:0100568Neoplasm of the endocrine system0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome948
HP:0100568HP:0100568Neoplasm of the endocrine system0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0100568HP:0100568Neoplasm of the endocrine system0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0100568HP:0100568Neoplasm of the endocrine system0RET CL E G H59799967ORPHA:388Hirschsprung disease572
HP:0100568HP:0100568Neoplasm of the endocrine system0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0100568HP:0100568Neoplasm of the endocrine system0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0100568HP:0100568Neoplasm of the endocrine system0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0100568HP:0100568Neoplasm of the endocrine system0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0100568HP:0100568Neoplasm of the endocrine system0RET CL E G H59799967OMIM:155240Thyroid carcinoma, familial medullary572
HP:0100568HP:0100568Neoplasm of the endocrine system0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type X1
HP:0100568HP:0100568Neoplasm of the endocrine system0SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysis263
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHA CL E G H638910680OMIM:614165PARAGANGLIOMAS 5; PGL5304
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHB CL E G H639010681ORPHA:97286Carney-Stratakis syndrome237
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHB CL E G H639010681OMIM:606864Carney-Stratakis syndrome237
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHC CL E G H639110682ORPHA:97286Carney-Stratakis syndrome147
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHC CL E G H639110682OMIM:606864Carney-Stratakis syndrome147
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHD CL E G H639210683ORPHA:100093Carcinoid syndrome129
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHD CL E G H639210683OMIM:606864Carney-Stratakis syndrome129
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHD CL E G H639210683ORPHA:97286Carney-Stratakis syndrome129
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0100568HP:0100568Neoplasm of the endocrine system0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0100568HP:0100568Neoplasm of the endocrine system0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0100568HP:0100568Neoplasm of the endocrine system0SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0100568HP:0100568Neoplasm of the endocrine system0SEMA3C CL E G H1051210725ORPHA:388Hirschsprung disease1
HP:0100568HP:0100568Neoplasm of the endocrine system0SEMA3D CL E G H22311710726ORPHA:388Hirschsprung disease2
HP:0100568HP:0100568Neoplasm of the endocrine system0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type X48
HP:0100568HP:0100568Neoplasm of the endocrine system0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0100568HP:0100568Neoplasm of the endocrine system0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100568HP:0100568Neoplasm of the endocrine system0SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0100568HP:0100568Neoplasm of the endocrine system0SLC26A4 CL E G H51728818ORPHA:705Pendred syndrome274
HP:0100568HP:0100568Neoplasm of the endocrine system0SLC26A4 CL E G H51728818OMIM:274600Pendred syndrome274
HP:0100568HP:0100568Neoplasm of the endocrine system0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0100568HP:0100568Neoplasm of the endocrine system0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0100568HP:0100568Neoplasm of the endocrine system0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0100568HP:0100568Neoplasm of the endocrine system0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0100568HP:0100568Neoplasm of the endocrine system0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0100568HP:0100568Neoplasm of the endocrine system0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0100568HP:0100568Neoplasm of the endocrine system0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0100568HP:0100568Neoplasm of the endocrine system0SMO CL E G H660811119ORPHA:388Hirschsprung disease22
HP:0100568HP:0100568Neoplasm of the endocrine system0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0100568HP:0100568Neoplasm of the endocrine system0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0100568HP:0100568Neoplasm of the endocrine system0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0100568HP:0100568Neoplasm of the endocrine system0SREBF1 CL E G H672011289ORPHA:388Hirschsprung disease1
HP:0100568HP:0100568Neoplasm of the endocrine system0SRGAP1 CL E G H5752217382OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0100568HP:0100568Neoplasm of the endocrine system0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0100568HP:0100568Neoplasm of the endocrine system0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0100568HP:0100568Neoplasm of the endocrine system0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0100568HP:0100568Neoplasm of the endocrine system0TG CL E G H703811764OMIM:274700Thyroid hormonogenesis, genetic defect in, 3155
HP:0100568HP:0100568Neoplasm of the endocrine system0TGFBR2 CL E G H704811773ORPHA:144Lynch syndrome253
HP:0100568HP:0100568Neoplasm of the endocrine system0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0100568HP:0100568Neoplasm of the endocrine system0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0100568HP:0100568Neoplasm of the endocrine system0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0100568HP:0100568Neoplasm of the endocrine system0TP53 CL E G H715711998OMIM:202300Adrenocortical carcinoma, pediatric911
HP:0100568HP:0100568Neoplasm of the endocrine system0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0100568HP:0100568Neoplasm of the endocrine system0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0100568HP:0100568Neoplasm of the endocrine system0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0100568HP:0100568Neoplasm of the endocrine system0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0100568HP:0100568Neoplasm of the endocrine system0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100568HP:0100568Neoplasm of the endocrine system0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100568HP:0100568Neoplasm of the endocrine system0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0100568HP:0100568Neoplasm of the endocrine system0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0100568HP:0100568Neoplasm of the endocrine system0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0100568HP:0100568Neoplasm of the endocrine system0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0100568HP:0100568Neoplasm of the endocrine system0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0100568HP:0100568Neoplasm of the endocrine system0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0100568HP:0100568Neoplasm of the endocrine system0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0100568HP:0100568Neoplasm of the endocrine system0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0100568HP:0100568Neoplasm of the endocrine system0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100568HP:0100568Neoplasm of the endocrine system0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0100568HP:0100568Neoplasm of the endocrine system0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0100568HP:0100568Neoplasm of the endocrine system0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0100568HP:0040192APUdoma1 CL E G H
HP:0100568HP:0100031Neoplasm of the thyroid gland1ABCD1 CL E G H21561ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional135
HP:0100568HP:0040277Neoplasm of the pituitary gland1AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0100568HP:0040277Neoplasm of the pituitary gland1AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0100568HP:0040277Neoplasm of the pituitary gland1AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0100568HP:0040277Neoplasm of the pituitary gland1AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0100568HP:0100031Neoplasm of the thyroid gland1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0100568HP:0100031Neoplasm of the thyroid gland1AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0100568HP:0040277Neoplasm of the pituitary gland1AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0100568HP:0040277Neoplasm of the pituitary gland1ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney disease
HP:0100568HP:0040277Neoplasm of the pituitary gland1ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney disease93
HP:0100568HP:0100631Neoplasm of the adrenal gland1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100568HP:0100031Neoplasm of the thyroid gland1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100568HP:0100634Neuroendocrine neoplasm1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100568HP:0100631Neoplasm of the adrenal gland1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100568HP:0100031Neoplasm of the thyroid gland1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100568HP:0100031Neoplasm of the thyroid gland1APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100568HP:0100634Neuroendocrine neoplasm1APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100568HP:0100631Neoplasm of the adrenal gland1APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100568HP:0100031Neoplasm of the thyroid gland1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0100568HP:0040277Neoplasm of the pituitary gland1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0100568HP:0100031Neoplasm of the thyroid gland1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0100568HP:0100031Neoplasm of the thyroid gland1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0100568HP:0100031Neoplasm of the thyroid gland1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0100568HP:0040277Neoplasm of the pituitary gland1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0100568HP:0100634Neuroendocrine neoplasm1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0100568HP:0100031Neoplasm of the thyroid gland1ATP7A CL E G H538869ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional192
HP:0100568HP:0040277Neoplasm of the pituitary gland1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0100568HP:0100634Neuroendocrine neoplasm1ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0100568HP:0040277Neoplasm of the pituitary gland1BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0100568HP:0040277Neoplasm of the pituitary gland1BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney disease5
HP:0100568HP:0100031Neoplasm of the thyroid gland1BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0100568HP:0040277Neoplasm of the pituitary gland1BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type X385
HP:0100568HP:0100031Neoplasm of the thyroid gland1BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0100568HP:0040277Neoplasm of the pituitary gland1BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0100568HP:0040277Neoplasm of the pituitary gland1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0100568HP:0100631Neoplasm of the adrenal gland1CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0100568HP:0100031Neoplasm of the thyroid gland1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CASR CL E G H8461514OMIM:145980Hypocalciuric hypercalcemia, familial, type I272
HP:0100568HP:0100631Neoplasm of the adrenal gland1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100568HP:0100634Neuroendocrine neoplasm1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100568HP:0100634Neuroendocrine neoplasm1CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidism169
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2169
HP:0100568HP:0100031Neoplasm of the thyroid gland1CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2169
HP:0100568HP:0100031Neoplasm of the thyroid gland1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDC73 CL E G H7957716783OMIM:608266Parathyroid carcinoma169
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0100568HP:0100031Neoplasm of the thyroid gland1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0100568HP:0040277Neoplasm of the pituitary gland1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0100568HP:0040277Neoplasm of the pituitary gland1CDH23 CL E G H6407213733OMIM:617540Pituitary adenoma 5, multiple types636
HP:0100568HP:0100031Neoplasm of the thyroid gland1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100568HP:0100631Neoplasm of the adrenal gland1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100568HP:0100634Neuroendocrine neoplasm1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100568HP:0040277Neoplasm of the pituitary gland1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100568HP:0100031Neoplasm of the thyroid gland1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100568HP:0100634Neuroendocrine neoplasm1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100568HP:0040277Neoplasm of the pituitary gland1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100568HP:0100631Neoplasm of the adrenal gland1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100568HP:0100634Neuroendocrine neoplasm1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0100568HP:0100631Neoplasm of the adrenal gland1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100568HP:0040277Neoplasm of the pituitary gland1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100568HP:0100031Neoplasm of the thyroid gland1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100568HP:0040277Neoplasm of the pituitary gland1CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100568HP:0100634Neuroendocrine neoplasm1CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100568HP:0100631Neoplasm of the adrenal gland1CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0100568HP:0100631Neoplasm of the adrenal gland1CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0100568HP:0100031Neoplasm of the thyroid gland1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0100568HP:0100631Neoplasm of the adrenal gland1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0100568HP:0100031Neoplasm of the thyroid gland1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100568HP:0040277Neoplasm of the pituitary gland1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100568HP:0100631Neoplasm of the adrenal gland1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100568HP:0100634Neuroendocrine neoplasm1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100568HP:0100031Neoplasm of the thyroid gland1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100568HP:0040277Neoplasm of the pituitary gland1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100568HP:0100631Neoplasm of the adrenal gland1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100568HP:0100634Neuroendocrine neoplasm1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100568HP:0100631Neoplasm of the adrenal gland1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0100568HP:0100031Neoplasm of the thyroid gland1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0100568HP:0100631Neoplasm of the adrenal gland1CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type II44
HP:0100568HP:0100733Neoplasm of the parathyroid gland1CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0100568HP:0100631Neoplasm of the adrenal gland1CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0100568HP:0040277Neoplasm of the pituitary gland1CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0100568HP:0100631Neoplasm of the adrenal gland1CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type I112
HP:0100568HP:0100631Neoplasm of the adrenal gland1CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type I73
HP:0100568HP:0100634Neuroendocrine neoplasm1DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0100568HP:0100031Neoplasm of the thyroid gland1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100568HP:0100031Neoplasm of the thyroid gland1DICER1 CL E G H2340517098OMIM:138800Goiter, multinodular 1670
HP:0100568HP:0100634Neuroendocrine neoplasm1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100568HP:0100631Neoplasm of the adrenal gland1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100568HP:0100634Neuroendocrine neoplasm1DLST CL E G H17432911OMIM:618475Paragangliomas 7
HP:0100568HP:0040277Neoplasm of the pituitary gland1DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney disease
HP:0100568HP:0100634Neuroendocrine neoplasm1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0100568HP:0100631Neoplasm of the adrenal gland1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0100568HP:0100634Neuroendocrine neoplasm1DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040284 - Very rare44
HP:0100568HP:0100031Neoplasm of the thyroid gland1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0100568HP:0100031Neoplasm of the thyroid gland1ECE1 CL E G H18893146ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional13
HP:0100568HP:0100031Neoplasm of the thyroid gland1EDN3 CL E G H19083178ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional67
HP:0100568HP:0100031Neoplasm of the thyroid gland1EDNRB CL E G H19103180ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional55
HP:0100568HP:0100634Neuroendocrine neoplasm1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0100568HP:0100631Neoplasm of the adrenal gland1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0100568HP:0100031Neoplasm of the thyroid gland1EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0100568HP:0040277Neoplasm of the pituitary gland1EPCAM CL E G H407211529ORPHA:144Lynch syndrome170
HP:0100568HP:0100031Neoplasm of the thyroid gland1ERBB2 CL E G H20643430ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional77
HP:0100568HP:0100031Neoplasm of the thyroid gland1ERBB3 CL E G H20653431ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional12
HP:0100568HP:0040277Neoplasm of the pituitary gland1FAN1 CL E G H2290929170ORPHA:144Lynch syndrome15
HP:0100568HP:0100031Neoplasm of the thyroid gland1FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0100568HP:0100031Neoplasm of the thyroid gland1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0100568HP:0100031Neoplasm of the thyroid gland1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0100568HP:0100631Neoplasm of the adrenal gland1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0100568HP:0100634Neuroendocrine neoplasm1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0100568HP:0100031Neoplasm of the thyroid gland1FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndrome332
HP:0100568HP:0100733Neoplasm of the parathyroid gland1FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndrome332
HP:0100568HP:0100031Neoplasm of the thyroid gland1FOXE1 CL E G H23043806ORPHA:319487Familial papillary or follicular thyroid carcinoma9
HP:0100568HP:0100031Neoplasm of the thyroid gland1FOXE1 CL E G H23043806OMIM:616534Thyroid cancer, nonmedullary, 49
HP:0100568HP:0100031Neoplasm of the thyroid gland1FOXI1 CL E G H22993815OMIM:274600Pendred syndrome33
HP:0100568HP:0100031Neoplasm of the thyroid gland1FOXI1 CL E G H22993815ORPHA:705Pendred syndrome33
HP:0100568HP:0040277Neoplasm of the pituitary gland1GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney disease6
HP:0100568HP:0100634Neuroendocrine neoplasm1GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemia1
HP:0100568HP:0100733Neoplasm of the parathyroid gland1GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidism51
HP:0100568HP:0100733Neoplasm of the parathyroid gland1GCM2 CL E G H92474198OMIM:617343Hyperparathyroidism 451
HP:0100568HP:0100031Neoplasm of the thyroid gland1GDNF CL E G H26684232ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional59
HP:0100568HP:0040277Neoplasm of the pituitary gland1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0100568HP:0100634Neuroendocrine neoplasm1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0100568HP:0040277Neoplasm of the pituitary gland1GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic101
HP:0100568HP:0040277Neoplasm of the pituitary gland1GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0100568HP:0040277Neoplasm of the pituitary gland1GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0100568HP:0040277Neoplasm of the pituitary gland1GPR101 CL E G H8355014963OMIM:300943PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA25
HP:0100568HP:0100031Neoplasm of the thyroid gland1GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0100568HP:0100631Neoplasm of the adrenal gland1H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0100568HP:0100031Neoplasm of the thyroid gland1HABP2 CL E G H30264798ORPHA:319487Familial papillary or follicular thyroid carcinoma58
HP:0100568HP:0100031Neoplasm of the thyroid gland1HABP2 CL E G H30264798OMIM:616535Thyroid cancer, nonmedullary, 558
HP:0100568HP:0100634Neuroendocrine neoplasm1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0100568HP:0100031Neoplasm of the thyroid gland1HRAS CL E G H32655173OMIM:188470Thyroid cancer, nonmedullary, 2113
HP:0100568HP:0100733Neoplasm of the parathyroid gland1IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040283 - Occasional15
HP:0100568HP:0100631Neoplasm of the adrenal gland1IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0100568HP:0040277Neoplasm of the pituitary gland1IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0100568HP:0040277Neoplasm of the pituitary gland1IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0100568HP:0100631Neoplasm of the adrenal gland1IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0100568HP:0100733Neoplasm of the parathyroid gland1IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040283 - Occasional29
HP:0100568HP:0100634Neuroendocrine neoplasm1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100568HP:0100733Neoplasm of the parathyroid gland1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100568HP:0040277Neoplasm of the pituitary gland1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100568HP:0040277Neoplasm of the pituitary gland1IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney disease148
HP:0100568HP:0100631Neoplasm of the adrenal gland1IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0100568HP:0100031Neoplasm of the thyroid gland1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0100568HP:0100631Neoplasm of the adrenal gland1KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysis73
HP:0100568HP:0100031Neoplasm of the thyroid gland1KCNJ10 CL E G H37666256OMIM:274600Pendred syndrome121
HP:0100568HP:0100031Neoplasm of the thyroid gland1KCNJ10 CL E G H37666256ORPHA:705Pendred syndrome121
HP:0100568HP:0100634Neuroendocrine neoplasm1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0100568HP:0100631Neoplasm of the adrenal gland1KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0100568HP:0100631Neoplasm of the adrenal gland1KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0100568HP:0100031Neoplasm of the thyroid gland1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100568HP:0100634Neuroendocrine neoplasm1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0100568HP:0100631Neoplasm of the adrenal gland1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0100568HP:0100634Neuroendocrine neoplasm1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0100568HP:0100031Neoplasm of the thyroid gland1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0100568HP:0040277Neoplasm of the pituitary gland1KRAS CL E G H38456407ORPHA:144Lynch syndrome196
HP:0100568HP:0100031Neoplasm of the thyroid gland1KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0100568HP:0100031Neoplasm of the thyroid gland1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040282 - Frequent645
HP:0100568HP:0100634Neuroendocrine neoplasm1LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0100568HP:0100634Neuroendocrine neoplasm1MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0100568HP:0100631Neoplasm of the adrenal gland1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0100568HP:0100634Neuroendocrine neoplasm1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0100568HP:0100634Neuroendocrine neoplasm1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0100568HP:0100634Neuroendocrine neoplasm1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0100568HP:0100631Neoplasm of the adrenal gland1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0100568HP:0100031Neoplasm of the thyroid gland1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0100568HP:0100631Neoplasm of the adrenal gland1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0100568HP:0100733Neoplasm of the parathyroid gland1MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidism462
HP:0100568HP:0100634Neuroendocrine neoplasm1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040283 - Occasional462
HP:0100568HP:0040277Neoplasm of the pituitary gland1MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0100568HP:0100631Neoplasm of the adrenal gland1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040283 - Occasional462
HP:0100568HP:0100634Neuroendocrine neoplasm1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100568HP:0100031Neoplasm of the thyroid gland1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100568HP:0100733Neoplasm of the parathyroid gland1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100568HP:0040277Neoplasm of the pituitary gland1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100568HP:0100631Neoplasm of the adrenal gland1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100568HP:0100631Neoplasm of the adrenal gland1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100568HP:0100031Neoplasm of the thyroid gland1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100568HP:0040277Neoplasm of the pituitary gland1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100568HP:0100634Neuroendocrine neoplasm1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100568HP:0100733Neoplasm of the parathyroid gland1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100568HP:0040277Neoplasm of the pituitary gland1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0100568HP:0100031Neoplasm of the thyroid gland1MINPP1 CL E G H95627102ORPHA:319487Familial papillary or follicular thyroid carcinoma3
HP:0100568HP:0100031Neoplasm of the thyroid gland1MINPP1 CL E G H95627102OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0100568HP:0100031Neoplasm of the thyroid gland1MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0100568HP:0040277Neoplasm of the pituitary gland1MLH1 CL E G H42927127ORPHA:144Lynch syndrome1819
HP:0100568HP:0040277Neoplasm of the pituitary gland1MLH3 CL E G H270307128ORPHA:144Lynch syndrome131
HP:0100568HP:0100031Neoplasm of the thyroid gland1MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0100568HP:0040277Neoplasm of the pituitary gland1MSH2 CL E G H44367325ORPHA:144Lynch syndrome2162
HP:0100568HP:0100031Neoplasm of the thyroid gland1MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0100568HP:0100031Neoplasm of the thyroid gland1MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 45
HP:0100568HP:0100031Neoplasm of the thyroid gland1MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposis5
HP:0100568HP:0040277Neoplasm of the pituitary gland1MSH6 CL E G H29567329ORPHA:144Lynch syndrome2232
HP:0100568HP:0100031Neoplasm of the thyroid gland1MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0100568HP:0100634Neuroendocrine neoplasm1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0100568HP:0100631Neoplasm of the adrenal gland1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0100568HP:0100634Neuroendocrine neoplasm1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0100568HP:0100733Neoplasm of the parathyroid gland1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100568HP:0100634Neuroendocrine neoplasm1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100568HP:0040277Neoplasm of the pituitary gland1NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0100568HP:0100031Neoplasm of the thyroid gland1NKX2-1 CL E G H708011825OMIM:188550Thyroid cancer, nonmedullary, 151
HP:0100568HP:0040277Neoplasm of the pituitary gland1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0100568HP:0100031Neoplasm of the thyroid gland1NRAS CL E G H48937989OMIM:188470Thyroid cancer, nonmedullary, 2102
HP:0100568HP:0100031Neoplasm of the thyroid gland1NRTN CL E G H49028007ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional4
HP:0100568HP:0100031Neoplasm of the thyroid gland1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100568HP:0040277Neoplasm of the pituitary gland1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100568HP:0040277Neoplasm of the pituitary gland1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100568HP:0040277Neoplasm of the pituitary gland1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100568HP:0040277Neoplasm of the pituitary gland1PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0100568HP:0100031Neoplasm of the thyroid gland1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0100568HP:0100031Neoplasm of the thyroid gland1PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0100568HP:0100031Neoplasm of the thyroid gland1PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0100568HP:0040277Neoplasm of the pituitary gland1PIK3CA CL E G H52908975ORPHA:144Lynch syndrome162
HP:0100568HP:0040277Neoplasm of the pituitary gland1PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0100568HP:0040277Neoplasm of the pituitary gland1PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney disease342
HP:0100568HP:0040277Neoplasm of the pituitary gland1PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney disease106
HP:0100568HP:0100031Neoplasm of the thyroid gland1PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0100568HP:0040277Neoplasm of the pituitary gland1PMS1 CL E G H53789121ORPHA:144Lynch syndrome56
HP:0100568HP:0040277Neoplasm of the pituitary gland1PMS2 CL E G H53959122ORPHA:144Lynch syndrome1121
HP:0100568HP:0100031Neoplasm of the thyroid gland1PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0100568HP:0040277Neoplasm of the pituitary gland1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100568HP:0100631Neoplasm of the adrenal gland1PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0100568HP:0100031Neoplasm of the thyroid gland1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100568HP:0040277Neoplasm of the pituitary gland1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100568HP:0100031Neoplasm of the thyroid gland1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0100568HP:0100634Neuroendocrine neoplasm1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0100568HP:0040277Neoplasm of the pituitary gland1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0100568HP:0040277Neoplasm of the pituitary gland1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100568HP:0100031Neoplasm of the thyroid gland1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0100568HP:0100031Neoplasm of the thyroid gland1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0100568HP:0100631Neoplasm of the adrenal gland1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0100568HP:0100031Neoplasm of the thyroid gland1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0100568HP:0100031Neoplasm of the thyroid gland1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0100568HP:0100031Neoplasm of the thyroid gland1PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos diseaseHP:0040282 - Frequent948
HP:0100568HP:0100031Neoplasm of the thyroid gland1PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040283 - Occasional948
HP:0100568HP:0100031Neoplasm of the thyroid gland1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0100568HP:0100631Neoplasm of the adrenal gland1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0100568HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0100568HP:0100031Neoplasm of the thyroid gland1RET CL E G H59799967ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional572
HP:0100568HP:0100031Neoplasm of the thyroid gland1RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0100568HP:0100733Neoplasm of the parathyroid gland1RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0100568HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0100568HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0100568HP:0100031Neoplasm of the thyroid gland1RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0100568HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0100568HP:0100631Neoplasm of the adrenal gland1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0100568HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0100568HP:0100031Neoplasm of the thyroid gland1RET CL E G H59799967OMIM:155240Thyroid carcinoma, familial medullary572
HP:0100568HP:0040277Neoplasm of the pituitary gland1RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type X1
HP:0100568HP:0100031Neoplasm of the thyroid gland1RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0100568HP:0100631Neoplasm of the adrenal gland1SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysis263
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHA CL E G H638910680OMIM:614165PARAGANGLIOMAS 5; PGL5304
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681OMIM:606864Carney-Stratakis syndrome237
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681ORPHA:97286Carney-Stratakis syndrome237
HP:0100568HP:0100031Neoplasm of the thyroid gland1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHC CL E G H639110682ORPHA:97286Carney-Stratakis syndrome147
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHC CL E G H639110682OMIM:606864Carney-Stratakis syndrome147
HP:0100568HP:0100031Neoplasm of the thyroid gland1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683ORPHA:100093Carcinoid syndrome129
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683ORPHA:97286Carney-Stratakis syndrome129
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683OMIM:606864Carney-Stratakis syndrome129
HP:0100568HP:0100031Neoplasm of the thyroid gland1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0100568HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0100568HP:0100631Neoplasm of the adrenal gland1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0100568HP:0100031Neoplasm of the thyroid gland1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0100568HP:0100031Neoplasm of the thyroid gland1SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0100568HP:0100031Neoplasm of the thyroid gland1SEMA3C CL E G H1051210725ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0100568HP:0100031Neoplasm of the thyroid gland1SEMA3D CL E G H22311710726ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional2
HP:0100568HP:0100031Neoplasm of the thyroid gland1SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0100568HP:0040277Neoplasm of the pituitary gland1SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type X48
HP:0100568HP:0100733Neoplasm of the parathyroid gland1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0100568HP:0100634Neuroendocrine neoplasm1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100568HP:0100631Neoplasm of the adrenal gland1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100568HP:0100634Neuroendocrine neoplasm1SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0100568HP:0100031Neoplasm of the thyroid gland1SLC26A4 CL E G H51728818OMIM:274600Pendred syndrome274
HP:0100568HP:0100031Neoplasm of the thyroid gland1SLC26A4 CL E G H51728818ORPHA:705Pendred syndrome274
HP:0100568HP:0100031Neoplasm of the thyroid gland1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0100568HP:0100031Neoplasm of the thyroid gland1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0100568HP:0040277Neoplasm of the pituitary gland1SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0100568HP:0100031Neoplasm of the thyroid gland1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0100568HP:0100031Neoplasm of the thyroid gland1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0100568HP:0100031Neoplasm of the thyroid gland1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0100568HP:0040277Neoplasm of the pituitary gland1SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0100568HP:0100031Neoplasm of the thyroid gland1SMO CL E G H660811119ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional22
HP:0100568HP:0040277Neoplasm of the pituitary gland1SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0100568HP:0100031Neoplasm of the thyroid gland1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0100568HP:0100031Neoplasm of the thyroid gland1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0100568HP:0100031Neoplasm of the thyroid gland1SREBF1 CL E G H672011289ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0100568HP:0100031Neoplasm of the thyroid gland1SRGAP1 CL E G H5752217382OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0100568HP:0040277Neoplasm of the pituitary gland1SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0100568HP:0100631Neoplasm of the adrenal gland1TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0100568HP:0040277Neoplasm of the pituitary gland1TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0100568HP:0100031Neoplasm of the thyroid gland1TG CL E G H703811764OMIM:274700Thyroid hormonogenesis, genetic defect in, 3155
HP:0100568HP:0040277Neoplasm of the pituitary gland1TGFBR2 CL E G H704811773ORPHA:144Lynch syndrome253
HP:0100568HP:0100031Neoplasm of the thyroid gland1TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0100568HP:0100631Neoplasm of the adrenal gland1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0100568HP:0100634Neuroendocrine neoplasm1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0100568HP:0100634Neuroendocrine neoplasm1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0100568HP:0100631Neoplasm of the adrenal gland1TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0100568HP:0100631Neoplasm of the adrenal gland1TP53 CL E G H715711998OMIM:202300Adrenocortical carcinoma, pediatric911
HP:0100568HP:0040277Neoplasm of the pituitary gland1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0100568HP:0100031Neoplasm of the thyroid gland1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0100568HP:0100631Neoplasm of the adrenal gland1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0100568HP:0100631Neoplasm of the adrenal gland1TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0100568HP:0040277Neoplasm of the pituitary gland1TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0100568HP:0100634Neuroendocrine neoplasm1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100568HP:0040277Neoplasm of the pituitary gland1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100568HP:0100733Neoplasm of the parathyroid gland1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100568HP:0100634Neuroendocrine neoplasm1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100568HP:0100733Neoplasm of the parathyroid gland1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100568HP:0040277Neoplasm of the pituitary gland1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100568HP:0100031Neoplasm of the thyroid gland1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0100568HP:0040277Neoplasm of the pituitary gland1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0100568HP:0040277Neoplasm of the pituitary gland1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0100568HP:0040277Neoplasm of the pituitary gland1USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic7
HP:0100568HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0100568HP:0100631Neoplasm of the adrenal gland1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0100568HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0100568HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0100568HP:0100631Neoplasm of the adrenal gland1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0100568HP:0100631Neoplasm of the adrenal gland1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0100568HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0100568HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100568HP:0100031Neoplasm of the thyroid gland1WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0100568HP:0100634Neuroendocrine neoplasm1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040283 - Occasional7
HP:0100568HP:0100631Neoplasm of the adrenal gland1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040283 - Occasional7
HP:0100568HP:0040277Neoplasm of the pituitary gland1YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0100568HP:0100631Neoplasm of the adrenal gland1ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0100568HP:0030447Merkel cell skin cancer2 CL E G H
HP:0100568HP:0011750Neoplasm of the anterior pituitary2AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0100568HP:0011750Neoplasm of the anterior pituitary2AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0100568HP:0011750Neoplasm of the anterior pituitary2AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0100568HP:0040278Prolactinoma2AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0100568HP:0011750Neoplasm of the anterior pituitary2AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0100568HP:0002890Thyroid carcinoma2AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0100568HP:0000854Thyroid adenoma2AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0100568HP:0011750Neoplasm of the anterior pituitary2AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0100568HP:0011750Neoplasm of the anterior pituitary2ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney disease
HP:0100568HP:0011750Neoplasm of the anterior pituitary2ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney disease93
HP:0100568HP:0002890Thyroid carcinoma2APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100568HP:0100570Carcinoid tumor2APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100568HP:0100641Neoplasm of the adrenal cortex2APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100568HP:0002890Thyroid carcinoma2APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100568HP:0100641Neoplasm of the adrenal cortex2APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100568HP:0100570Carcinoid tumor2APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100568HP:0002890Thyroid carcinoma2APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100568HP:0100641Neoplasm of the adrenal cortex2APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100568HP:0002890Thyroid carcinoma2APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0100568HP:0011750Neoplasm of the anterior pituitary2APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0100568HP:0002890Thyroid carcinoma2ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0100568HP:0002890Thyroid carcinoma2ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0100568HP:0002890Thyroid carcinoma2ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0100568HP:0011750Neoplasm of the anterior pituitary2ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0100568HP:0011750Neoplasm of the anterior pituitary2ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0100568HP:0002668Paraganglioma2ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare169
HP:0100568HP:0100570Carcinoid tumor2ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040280 - Obligate169
HP:0100568HP:0011750Neoplasm of the anterior pituitary2BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0100568HP:0011750Neoplasm of the anterior pituitary2BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney disease5
HP:0100568HP:0011750Neoplasm of the anterior pituitary2BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type X385
HP:0100568HP:0002890Thyroid carcinoma2BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040284 - Very rare385
HP:0100568HP:0011750Neoplasm of the anterior pituitary2BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040281 - Very frequent276
HP:0100568HP:0011750Neoplasm of the anterior pituitary2BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0100568HP:0000854Thyroid adenoma2CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0100568HP:0002890Thyroid carcinoma2CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0100568HP:0002897Parathyroid adenoma2CASR CL E G H8461514OMIM:145980Hypocalciuric hypercalcemia, familial, type I.272
HP:0100568HP:0002666Pheochromocytoma2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100568HP:0002668Paraganglioma2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare1
HP:0100568HP:0100642Neoplasm of the adrenal medulla2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100568HP:0030405Pancreatic endocrine tumor2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0100568HP:0002666Pheochromocytoma2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0100568HP:0002668Paraganglioma2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0100568HP:0002897Parathyroid adenoma2CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent169
HP:0100568HP:0006780Parathyroid carcinoma2CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0100568HP:0000854Thyroid adenoma2CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2169
HP:0100568HP:0002897Parathyroid adenoma2CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0100568HP:0002897Parathyroid adenoma2CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040280 - Obligate169
HP:0100568HP:0002890Thyroid carcinoma2CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040284 - Very rare169
HP:0100568HP:0002890Thyroid carcinoma2CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040284 - Very rare169
HP:0100568HP:0006780Parathyroid carcinoma2CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040280 - Obligate169
HP:0100568HP:0006780Parathyroid carcinoma2CDC73 CL E G H7957716783OMIM:608266Parathyroid carcinoma.169
HP:0100568HP:0011750Neoplasm of the anterior pituitary2CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0100568HP:0011750Neoplasm of the anterior pituitary2CDH23 CL E G H6407213733OMIM:617540Pituitary adenoma 5, multiple types636
HP:0100568HP:0030405Pancreatic endocrine tumor2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100568HP:0011750Neoplasm of the anterior pituitary2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100568HP:0002890Thyroid carcinoma2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0100568HP:0100570Carcinoid tumor2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0100568HP:0006780Parathyroid carcinoma2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0100568HP:0002666Pheochromocytoma2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0100568HP:0100570Carcinoid tumor2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0100568HP:0030405Pancreatic endocrine tumor2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0100568HP:0006780Parathyroid carcinoma2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0100568HP:0002890Thyroid carcinoma2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100568HP:0002666Pheochromocytoma2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0100568HP:0011750Neoplasm of the anterior pituitary2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100568HP:0100570Carcinoid tumor2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0100568HP:0030405Pancreatic endocrine tumor2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100568HP:0000854Thyroid adenoma2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0100568HP:0006780Parathyroid carcinoma2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0100568HP:0002897Parathyroid adenoma2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040281 - Very frequent102
HP:0100568HP:0011750Neoplasm of the anterior pituitary2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100568HP:0011750Neoplasm of the anterior pituitary2CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100568HP:0100570Carcinoid tumor2CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV.102
HP:0100568HP:0030405Pancreatic endocrine tumor2CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100568HP:0002897Parathyroid adenoma2CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0100568HP:0002890Thyroid carcinoma2CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0100568HP:0002890Thyroid carcinoma2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0100568HP:0030405Pancreatic endocrine tumor2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0100568HP:0006780Parathyroid carcinoma2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0100568HP:0002666Pheochromocytoma2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0100568HP:0011750Neoplasm of the anterior pituitary2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100568HP:0100570Carcinoid tumor2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0100568HP:0002666Pheochromocytoma2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0100568HP:0100570Carcinoid tumor2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0100568HP:0002890Thyroid carcinoma2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0100568HP:0011750Neoplasm of the anterior pituitary2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100568HP:0006780Parathyroid carcinoma2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0100568HP:0030405Pancreatic endocrine tumor2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0100568HP:0002890Thyroid carcinoma2CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CLCN2 CL E G H11812020ORPHA:404Familial hyperaldosteronism type II44
HP:0100568HP:0002897Parathyroid adenoma2CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0100568HP:0011750Neoplasm of the anterior pituitary2CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040281 - Very frequent88
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type I112
HP:0100568HP:0100641Neoplasm of the adrenal cortex2CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type I73
HP:0100568HP:0002668Paraganglioma2DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare
HP:0100568HP:0100570Carcinoid tumor2DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040280 - Obligate
HP:0100568HP:0002890Thyroid carcinoma2DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040284 - Very rare670
HP:0100568HP:0002890Thyroid carcinoma2DICER1 CL E G H2340517098OMIM:138800Goiter, multinodular 1670
HP:0100568HP:0002666Pheochromocytoma2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100568HP:0002668Paraganglioma2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0100568HP:0100642Neoplasm of the adrenal medulla2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100568HP:0002668Paraganglioma2DLST CL E G H17432911OMIM:618475Paragangliomas 7.
HP:0100568HP:0002666Pheochromocytoma2DLST CL E G H17432911OMIM:618475Paragangliomas 7.
HP:0100568HP:0011750Neoplasm of the anterior pituitary2