Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormality of the pancreas (HP:0001732)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
..expand
Neoplasm of the pancreas (HP:0002894)help
Term ID: 2894
Name: Neoplasm of the pancreas
Synonym: Cancer of the pancreas; increased risk of pancreatic cancer; Neoplasia of the pancreas; Pancreatic cancer; Pancreatic tumor; Pancreatic tumour
Definition: A tumor (abnormal growth of tissue) of the pancreas.
Comments:
Reference: HP:0002894
Genes and Diseases:
 
       Child Nodes:
........expandPancreatic adenocarcinoma (HP:0006725) help
........expandPancreatic islet cell adenoma (HP:0008261) help
................... HP:0008194 Multiple pancreatic beta-cell adenomas
................... HP:0012197 Insulinoma
........expandPancreatic squamous cell carcinoma (HP:0012142) help
........expandPancreatoblastoma (HP:0100757) help

 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 endocrine system (HP:0100568) 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 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:0002894HP:0002894Neoplasm of the pancreas0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0002894HP:0002894Neoplasm of the pancreas0ACD CL E G H6505725070ORPHA:618Familial melanomaHP:0040283 - Occasional11
HP:0002894HP:0002894Neoplasm of the pancreas0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0002894HP:0002894Neoplasm of the pancreas0APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0002894HP:0002894Neoplasm of the pancreas0BAP1 CL E G H8314950ORPHA:618Familial melanomaHP:0040283 - Occasional184
HP:0002894HP:0002894Neoplasm of the pancreas0BARD1 CL E G H580952ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional790
HP:0002894HP:0002894Neoplasm of the pancreas0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0002894HP:0002894Neoplasm of the pancreas0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0002894HP:0002894Neoplasm of the pancreas0BRCA1 CL E G H6721100ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional5769
HP:0002894HP:0002894Neoplasm of the pancreas0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0002894HP:0002894Neoplasm of the pancreas0BRCA2 CL E G H6751101ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional7642
HP:0002894HP:0002894Neoplasm of the pancreas0BRCA2 CL E G H6751101OMIM:613347Pancreatic cancer, susceptibility to, 2.7642
HP:0002894HP:0002894Neoplasm of the pancreas0BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinoma
HP:0002894HP:0002894Neoplasm of the pancreas0BRIP1 CL E G H8399020473ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional1086
HP:0002894HP:0002894Neoplasm of the pancreas0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare1
HP:0002894HP:0002894Neoplasm of the pancreas0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0002894HP:0002894Neoplasm of the pancreas0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2169
HP:0002894HP:0002894Neoplasm of the pancreas0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0002894HP:0002894Neoplasm of the pancreas0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0002894HP:0002894Neoplasm of the pancreas0CDK4 CL E G H10191773ORPHA:618Familial melanomaHP:0040283 - Occasional145
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN2A CL E G H10291787ORPHA:618Familial melanomaHP:0040283 - Occasional289
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN2A CL E G H10291787OMIM:606719Melanoma-Pancreatic cancer syndrome289
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN2B CL E G H10301788ORPHA:618Familial melanomaHP:0040283 - Occasional1
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0002894HP:0002894Neoplasm of the pancreas0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0002894HP:0002894Neoplasm of the pancreas0CHEK2 CL E G H1120016627ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional833
HP:0002894HP:0002894Neoplasm of the pancreas0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0002894HP:0002894Neoplasm of the pancreas0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0002894HP:0002894Neoplasm of the pancreas0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0002894HP:0002894Neoplasm of the pancreas0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0002894HP:0002894Neoplasm of the pancreas0CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0002894HP:0002894Neoplasm of the pancreas0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0002894HP:0002894Neoplasm of the pancreas0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0002894HP:0002894Neoplasm of the pancreas0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040283 - Occasional
HP:0002894HP:0002894Neoplasm of the pancreas0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0002894HP:0002894Neoplasm of the pancreas0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0002894HP:0002894Neoplasm of the pancreas0GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemiaHP:0040282 - Frequent1
HP:0002894HP:0002894Neoplasm of the pancreas0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0002894HP:0002894Neoplasm of the pancreas0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinoma196
HP:0002894HP:0002894Neoplasm of the pancreas0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0002894HP:0002894Neoplasm of the pancreas0KRAS CL E G H38456407OMIM:260350Pancreatic cancer.196
HP:0002894HP:0002894Neoplasm of the pancreas0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0002894HP:0002894Neoplasm of the pancreas0MC1R CL E G H41576929ORPHA:618Familial melanomaHP:0040283 - Occasional124
HP:0002894HP:0002894Neoplasm of the pancreas0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0002894HP:0002894Neoplasm of the pancreas0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0002894HP:0002894Neoplasm of the pancreas0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462
HP:0002894HP:0002894Neoplasm of the pancreas0MGMT CL E G H42557059ORPHA:618Familial melanomaHP:0040283 - Occasional3
HP:0002894HP:0002894Neoplasm of the pancreas0MITF CL E G H42867105ORPHA:618Familial melanomaHP:0040283 - Occasional91
HP:0002894HP:0002894Neoplasm of the pancreas0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0002894HP:0002894Neoplasm of the pancreas0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0002894HP:0002894Neoplasm of the pancreas0MRE11 CL E G H43617230ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional532
HP:0002894HP:0002894Neoplasm of the pancreas0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0002894HP:0002894Neoplasm of the pancreas0MSH6 CL E G H29567329OMIM:614350Colorectal cancer, hereditary nonpolyposis, type 52232
HP:0002894HP:0002894Neoplasm of the pancreas0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0002894HP:0002894Neoplasm of the pancreas0NBN CL E G H46837652ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional706
HP:0002894HP:0002894Neoplasm of the pancreas0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0002894HP:0002894Neoplasm of the pancreas0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0002894HP:0002894Neoplasm of the pancreas0NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosisHP:0040283 - Occasional144
HP:0002894HP:0002894Neoplasm of the pancreas0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0002894HP:0002894Neoplasm of the pancreas0NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0002894HP:0002894Neoplasm of the pancreas0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0002894HP:0002894Neoplasm of the pancreas0NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinoma
HP:0002894HP:0002894Neoplasm of the pancreas0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinoma1349
HP:0002894HP:0002894Neoplasm of the pancreas0PALB2 CL E G H7972826144ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional1349
HP:0002894HP:0002894Neoplasm of the pancreas0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinoma192
HP:0002894HP:0002894Neoplasm of the pancreas0PALLD CL E G H2302217068OMIM:606856PANCREATIC CANCER, SUSCEPTIBILITY TO, 1192
HP:0002894HP:0002894Neoplasm of the pancreas0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0002894HP:0002894Neoplasm of the pancreas0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040284 - Very rare13
HP:0002894HP:0002894Neoplasm of the pancreas0PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosisHP:0040283 - Occasional28
HP:0002894HP:0002894Neoplasm of the pancreas0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0002894HP:0002894Neoplasm of the pancreas0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0002894HP:0002894Neoplasm of the pancreas0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0002894HP:0002894Neoplasm of the pancreas0POT1 CL E G H2591317284ORPHA:618Familial melanomaHP:0040283 - Occasional23
HP:0002894HP:0002894Neoplasm of the pancreas0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040284 - Very rare134
HP:0002894HP:0002894Neoplasm of the pancreas0PTEN CL E G H57289588ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional948
HP:0002894HP:0002894Neoplasm of the pancreas0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinoma
HP:0002894HP:0002894Neoplasm of the pancreas0RABL3 CL E G H28528218072OMIM:618680PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0002894HP:0002894Neoplasm of the pancreas0RAD50 CL E G H101119816ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional789
HP:0002894HP:0002894Neoplasm of the pancreas0RAD51 CL E G H58889817ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional9
HP:0002894HP:0002894Neoplasm of the pancreas0RAD51C CL E G H58899820ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional391
HP:0002894HP:0002894Neoplasm of the pancreas0RAD51D CL E G H58929823ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional345
HP:0002894HP:0002894Neoplasm of the pancreas0RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndrome5
HP:0002894HP:0002894Neoplasm of the pancreas0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0002894HP:0002894Neoplasm of the pancreas0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0002894HP:0002894Neoplasm of the pancreas0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0002894HP:0002894Neoplasm of the pancreas0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0002894HP:0002894Neoplasm of the pancreas0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinoma504
HP:0002894HP:0002894Neoplasm of the pancreas0SMAD4 CL E G H40896770OMIM:260350Pancreatic cancer.504
HP:0002894HP:0002894Neoplasm of the pancreas0SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis.34
HP:0002894HP:0002894Neoplasm of the pancreas0SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34
HP:0002894HP:0002894Neoplasm of the pancreas0STK11 CL E G H679411389OMIM:260350Pancreatic cancer.740
HP:0002894HP:0002894Neoplasm of the pancreas0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0002894HP:0002894Neoplasm of the pancreas0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0002894HP:0002894Neoplasm of the pancreas0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0002894HP:0002894Neoplasm of the pancreas0TERF2IP CL E G H5438619246ORPHA:618Familial melanomaHP:0040283 - Occasional
HP:0002894HP:0002894Neoplasm of the pancreas0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0002894HP:0002894Neoplasm of the pancreas0TERT CL E G H701511730ORPHA:618Familial melanomaHP:0040283 - Occasional238
HP:0002894HP:0002894Neoplasm of the pancreas0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0002894HP:0002894Neoplasm of the pancreas0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0002894HP:0002894Neoplasm of the pancreas0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinoma911
HP:0002894HP:0002894Neoplasm of the pancreas0TP53 CL E G H715711998ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional911
HP:0002894HP:0002894Neoplasm of the pancreas0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0002894HP:0002894Neoplasm of the pancreas0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome.911
HP:0002894HP:0002894Neoplasm of the pancreas0TP53 CL E G H715711998OMIM:260350Pancreatic cancer.911
HP:0002894HP:0002894Neoplasm of the pancreas0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0002894HP:0002894Neoplasm of the pancreas0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0002894HP:0002894Neoplasm of the pancreas0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare490
HP:0002894HP:0002894Neoplasm of the pancreas0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0002894HP:0002894Neoplasm of the pancreas0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0002894HP:0002894Neoplasm of the pancreas0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040283 - Occasional177
HP:0002894HP:0006725Pancreatic adenocarcinoma1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0002894HP:0006725Pancreatic adenocarcinoma1BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0002894HP:0006725Pancreatic adenocarcinoma1BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040280 - Obligate5769
HP:0002894HP:0006725Pancreatic adenocarcinoma1BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040280 - Obligate7642
HP:0002894HP:0100757Pancreatoblastoma1BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0002894HP:0012142Pancreatic squamous cell carcinoma1BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinomaHP:0040283 - Occasional
HP:0002894HP:0008261Pancreatic islet cell adenoma1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0002894HP:0006725Pancreatic adenocarcinoma1CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0002894HP:0006725Pancreatic adenocarcinoma1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040284 - Very rare169
HP:0002894HP:0006725Pancreatic adenocarcinoma1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040284 - Very rare169
HP:0002894HP:0008261Pancreatic islet cell adenoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0002894HP:0008261Pancreatic islet cell adenoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0002894HP:0008261Pancreatic islet cell adenoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0002894HP:0006725Pancreatic adenocarcinoma1CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040280 - Obligate289
HP:0002894HP:0006725Pancreatic adenocarcinoma1CDKN2A CL E G H10291787OMIM:606719Melanoma-Pancreatic cancer syndrome.289
HP:0002894HP:0012142Pancreatic squamous cell carcinoma1CDKN2A CL E G H10291787OMIM:606719Melanoma-Pancreatic cancer syndrome.289
HP:0002894HP:0008261Pancreatic islet cell adenoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0002894HP:0008261Pancreatic islet cell adenoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0002894HP:0006725Pancreatic adenocarcinoma1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0002894HP:0006725Pancreatic adenocarcinoma1CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0002894HP:0006725Pancreatic adenocarcinoma1EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0002894HP:0006725Pancreatic adenocarcinoma1FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0002894HP:0008261Pancreatic islet cell adenoma1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0002894HP:0006725Pancreatic adenocarcinoma1KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040280 - Obligate196
HP:0002894HP:0006725Pancreatic adenocarcinoma1KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0002894HP:0008261Pancreatic islet cell adenoma1MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0002894HP:0008261Pancreatic islet cell adenoma1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0002894HP:0008261Pancreatic islet cell adenoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0002894HP:0006725Pancreatic adenocarcinoma1MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0002894HP:0006725Pancreatic adenocarcinoma1MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0002894HP:0006725Pancreatic adenocarcinoma1MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0002894HP:0006725Pancreatic adenocarcinoma1MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0002894HP:0006725Pancreatic adenocarcinoma1NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0002894HP:0006725Pancreatic adenocarcinoma1NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040283 - Occasional2
HP:0002894HP:0012142Pancreatic squamous cell carcinoma1NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinomaHP:0040283 - Occasional
HP:0002894HP:0100757Pancreatoblastoma1NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0002894HP:0006725Pancreatic adenocarcinoma1PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040280 - Obligate1349
HP:0002894HP:0006725Pancreatic adenocarcinoma1PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040280 - Obligate192
HP:0002894HP:0006725Pancreatic adenocarcinoma1PALLD CL E G H2302217068OMIM:606856PANCREATIC CANCER, SUSCEPTIBILITY TO, 1192
HP:0002894HP:0006725Pancreatic adenocarcinoma1PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0002894HP:0006725Pancreatic adenocarcinoma1PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0002894HP:0006725Pancreatic adenocarcinoma1PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0002894HP:0006725Pancreatic adenocarcinoma1RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040280 - Obligate
HP:0002894HP:0006725Pancreatic adenocarcinoma1RABL3 CL E G H28528218072OMIM:618680PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0002894HP:0006725Pancreatic adenocarcinoma1RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndromeHP:0040284 - Very rare5
HP:0002894HP:0006725Pancreatic adenocarcinoma1RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0002894HP:0006725Pancreatic adenocarcinoma1SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0002894HP:0006725Pancreatic adenocarcinoma1SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040280 - Obligate504
HP:0002894HP:0006725Pancreatic adenocarcinoma1SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34
HP:0002894HP:0006725Pancreatic adenocarcinoma1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0002894HP:0006725Pancreatic adenocarcinoma1TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0002894HP:0006725Pancreatic adenocarcinoma1TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040280 - Obligate911
HP:0002894HP:0008261Pancreatic islet cell adenoma1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0002894HP:0012197Insulinoma2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0002894HP:0012197Insulinoma2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0002894HP:0012197Insulinoma2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0002894HP:0012197Insulinoma2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0002894HP:0012197Insulinoma2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0002894HP:0008194Multiple pancreatic beta-cell adenomas2KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0002894HP:0008194Multiple pancreatic beta-cell adenomas2MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus.
HP:0002894HP:0012197Insulinoma2MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0002894HP:0012197Insulinoma2MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0002894HP:0012197Insulinoma2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462


Genes (84) :AAGAB ACD APC BAP1 BARD1 BMPR1A BRCA1 BRCA2 BRD4 BRIP1 CCND1 CDC73 CDK4 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 CLCNKB COL14A1 CTC1 CTRC DKC1 EPCAM EWSR1 FAN1 FLI1 GCGR KCNJ11 KRAS MAFA MC1R MDM2 MEN1 MGMT MITF MLH1 MLH3 MRE11 MSH2 MSH6 NBN NHP2 NOP10 NOTCH3 NPM1 NTHL1 NUTM1 PALB2 PALLD PARN PDE11A PDGFRB PIK3CA PMS1 PMS2 POT1 PRKAR1A PTEN RABL3 RAD50 RAD51 RAD51C RAD51D RNF43 RPS20 RTEL1 SEMA4A SLC12A3 SMAD4 SPINK1 STK11 TERC TERF2IP TERT TGFBR2 TINF2 TP53 TYMS USB1 VHL WRAP53 WT1

Diseases (41) :ORPHA:79501 ORPHA:618 ORPHA:247806 ORPHA:79665 ORPHA:145 ORPHA:440437 ORPHA:1333 OMIM:613347 ORPHA:443167 ORPHA:892 OMIM:193300 OMIM:145001 ORPHA:99880 ORPHA:143 ORPHA:652 ORPHA:276152 ORPHA:524 OMIM:606719 ORPHA:358 ORPHA:1775 ORPHA:103918 ORPHA:144 ORPHA:83469 ORPHA:370348 ORPHA:438274 ORPHA:79644 OMIM:260350 OMIM:147630 OMIM:131100 OMIM:614350 ORPHA:2591 OMIM:616415 ORPHA:454840 OMIM:606856 ORPHA:1359 OMIM:618680 ORPHA:157798 OMIM:608189 OMIM:175200 ORPHA:2869 OMIM:151623
 

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