Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the gastrointestinal tract (HP:0011024)help
Grandparent Node:
expandNeoplasm by anatomical site (HP:0011793)help
Parent Node:
expandAbnormal stomach morphology (HP:0002577)help
Parent Node:
expandNeoplasm of the gastrointestinal tract (HP:0007378)help
..Starting node
..expandNeoplasm of the stomach (HP:0006753)help
Term ID: 6753
Name: Neoplasm of the stomach
Synonym: Neoplasia of the stomach; Stomach tumor; Stomach tumour
Definition: A tumor (abnormal growth of tissue) of the stomach.
Comments:
Reference: HP:0006753
Genes and Diseases:
 
       Child Nodes:
........expandMultiple gastric polyps (HP:0004394) help
........expandHamartomatous stomach polyps (HP:0004795) help
........expandStomach cancer (HP:0012126) help
........expandGastric leiomyosarcoma (HP:0031025) help
........expandGastric lymphoma (HP:0045038) help

 Sister Nodes: 
..expandAmpulla of Vater carcinoma (HP:0031524) help
..expandBenign gastrointestinal tract tumors (HP:0006719) help
..expandBiliary tract neoplasm (HP:0100574) help
..expandDesmoid tumors (HP:0100245) help
..expandEsophageal neoplasm (HP:0100751) help
..expandGastrointestinal stroma tumor (HP:0100723) help
..expandIntestinal carcinoid (HP:0006723) help
..expandIntestinal polyp (HP:0005266) help
..expandMalignant gastrointestinal tract tumors (HP:0006749) help
..expandMultiple intestinal neurofibromatosis (HP:0005220) help
..expandNeoplasm of the large intestine (HP:0100834) help
..expandNeoplasm of the liver (HP:0002896) help
..expandNeoplasm of the small intestine (HP:0100833) help
..expandPrimary peritoneal carcinoma (HP:0030406) help
..expandZollinger-Ellison syndrome (HP:0002044) 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:0006753HP:0006753Neoplasm of the stomach0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0006753HP:0006753Neoplasm of the stomach0ACD CL E G H6505725070ORPHA:618Familial melanomaHP:0040283 - Occasional11
HP:0006753HP:0006753Neoplasm of the stomach0AKT1 CL E G H207391OMIM:114500Colorectal cancer.54
HP:0006753HP:0006753Neoplasm of the stomach0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0006753HP:0006753Neoplasm of the stomach0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0006753HP:0006753Neoplasm of the stomach0APC CL E G H324583OMIM:114500Colorectal cancer.3179
HP:0006753HP:0006753Neoplasm of the stomach0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0006753HP:0006753Neoplasm of the stomach0APC CL E G H324583OMIM:619182GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS3179
HP:0006753HP:0006753Neoplasm of the stomach0APC CL E G H324583OMIM:613659Gastric cancer, somatic3179
HP:0006753HP:0006753Neoplasm of the stomach0AURKA CL E G H679011393OMIM:114500Colorectal cancer.1
HP:0006753HP:0006753Neoplasm of the stomach0AXIN2 CL E G H8313904OMIM:114500Colorectal cancer.435
HP:0006753HP:0006753Neoplasm of the stomach0AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0006753HP:0006753Neoplasm of the stomach0BAP1 CL E G H8314950ORPHA:618Familial melanomaHP:0040283 - Occasional184
HP:0006753HP:0006753Neoplasm of the stomach0BAX CL E G H581959OMIM:114500Colorectal cancer.4
HP:0006753HP:0006753Neoplasm of the stomach0BCL10 CL E G H8915989OMIM:137245Gastric lymphoma, primary18
HP:0006753HP:0006753Neoplasm of the stomach0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0006753HP:0006753Neoplasm of the stomach0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type X385
HP:0006753HP:0006753Neoplasm of the stomach0BMPR1A CL E G H6571076ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coli385
HP:0006753HP:0006753Neoplasm of the stomach0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0006753HP:0006753Neoplasm of the stomach0BRAF CL E G H6731097OMIM:114500Colorectal cancer.276
HP:0006753HP:0006753Neoplasm of the stomach0BUB1 CL E G H6991148OMIM:114500Colorectal cancer.5
HP:0006753HP:0006753Neoplasm of the stomach0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0006753HP:0006753Neoplasm of the stomach0BUB1B CL E G H7011149OMIM:114500Colorectal cancer.76
HP:0006753HP:0006753Neoplasm of the stomach0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0006753HP:0006753Neoplasm of the stomach0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0006753HP:0006753Neoplasm of the stomach0CASP10 CL E G H8431500OMIM:613659Gastric cancer, somatic87
HP:0006753HP:0006753Neoplasm of the stomach0CCND1 CL E G H5951582OMIM:114500Colorectal cancer.1
HP:0006753HP:0006753Neoplasm of the stomach0CDH1 CL E G H9991748OMIM:137215Gastric cancer, hereditary diffuse1003
HP:0006753HP:0006753Neoplasm of the stomach0CDK4 CL E G H10191773ORPHA:618Familial melanomaHP:0040283 - Occasional145
HP:0006753HP:0006753Neoplasm of the stomach0CDKN2A CL E G H10291787ORPHA:618Familial melanomaHP:0040283 - Occasional289
HP:0006753HP:0006753Neoplasm of the stomach0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0006753HP:0006753Neoplasm of the stomach0CDKN2B CL E G H10301788ORPHA:618Familial melanomaHP:0040283 - Occasional1
HP:0006753HP:0006753Neoplasm of the stomach0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0006753HP:0006753Neoplasm of the stomach0CHEK2 CL E G H1120016627OMIM:114500Colorectal cancer.833
HP:0006753HP:0006753Neoplasm of the stomach0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0006753HP:0006753Neoplasm of the stomach0CHEK2 CL E G H1120016627OMIM:609265LI-FRAUMENI SYNDROME 2; LFS2833
HP:0006753HP:0006753Neoplasm of the stomach0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0006753HP:0006753Neoplasm of the stomach0CTNNB1 CL E G H14992514OMIM:114500Colorectal cancer.88
HP:0006753HP:0006753Neoplasm of the stomach0DCC CL E G H16302701OMIM:114500Colorectal cancer.36
HP:0006753HP:0006753Neoplasm of the stomach0DLC1 CL E G H103952897OMIM:114500Colorectal cancer.11
HP:0006753HP:0006753Neoplasm of the stomach0ENG CL E G H20223349ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coli186
HP:0006753HP:0006753Neoplasm of the stomach0EP300 CL E G H20333373OMIM:114500Colorectal cancer.250
HP:0006753HP:0006753Neoplasm of the stomach0ERBB2 CL E G H20643430OMIM:613659Gastric cancer, somatic77
HP:0006753HP:0006753Neoplasm of the stomach0FGFR2 CL E G H22633689OMIM:613659Gastric cancer, somatic175
HP:0006753HP:0006753Neoplasm of the stomach0FGFR3 CL E G H22613690OMIM:114500Colorectal cancer.145
HP:0006753HP:0006753Neoplasm of the stomach0FLCN CL E G H20116327310OMIM:114500Colorectal cancer.332
HP:0006753HP:0006753Neoplasm of the stomach0IL1B CL E G H35535992OMIM:613659Gastric cancer, somatic2
HP:0006753HP:0006753Neoplasm of the stomach0IL1RN CL E G H35576000OMIM:613659Gastric cancer, somatic40
HP:0006753HP:0006753Neoplasm of the stomach0IRF1 CL E G H36596116OMIM:613659Gastric cancer, somatic2
HP:0006753HP:0006753Neoplasm of the stomach0KIT CL E G H38156342ORPHA:44890Gastrointestinal stromal tumorHP:0040281 - Very frequent327
HP:0006753HP:0006753Neoplasm of the stomach0KLF6 CL E G H13162235OMIM:613659Gastric cancer, somatic18
HP:0006753HP:0006753Neoplasm of the stomach0KRAS CL E G H38456407OMIM:613659Gastric cancer, somatic196
HP:0006753HP:0006753Neoplasm of the stomach0MC1R CL E G H41576929ORPHA:618Familial melanomaHP:0040283 - Occasional124
HP:0006753HP:0006753Neoplasm of the stomach0MCC CL E G H41636935OMIM:114500Colorectal cancer.6
HP:0006753HP:0006753Neoplasm of the stomach0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0006753HP:0006753Neoplasm of the stomach0MGMT CL E G H42557059ORPHA:618Familial melanomaHP:0040283 - Occasional3
HP:0006753HP:0006753Neoplasm of the stomach0MITF CL E G H42867105ORPHA:618Familial melanomaHP:0040283 - Occasional91
HP:0006753HP:0006753Neoplasm of the stomach0MLH1 CL E G H42927127ORPHA:587Muir-Torre syndromeHP:0040282 - Frequent1819
HP:0006753HP:0006753Neoplasm of the stomach0MLH3 CL E G H270307128OMIM:114500Colorectal cancer.131
HP:0006753HP:0006753Neoplasm of the stomach0MSH2 CL E G H44367325ORPHA:587Muir-Torre syndromeHP:0040282 - Frequent2162
HP:0006753HP:0006753Neoplasm of the stomach0MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 45
HP:0006753HP:0006753Neoplasm of the stomach0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposis5
HP:0006753HP:0006753Neoplasm of the stomach0MSH6 CL E G H29567329ORPHA:587Muir-Torre syndromeHP:0040282 - Frequent2232
HP:0006753HP:0006753Neoplasm of the stomach0MUTYH CL E G H45957527OMIM:613659Gastric cancer, somatic592
HP:0006753HP:0006753Neoplasm of the stomach0NRAS CL E G H48937989OMIM:114500Colorectal cancer.102
HP:0006753HP:0006753Neoplasm of the stomach0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0006753HP:0006753Neoplasm of the stomach0PDGFRA CL E G H51568803ORPHA:44890Gastrointestinal stromal tumorHP:0040281 - Very frequent337
HP:0006753HP:0006753Neoplasm of the stomach0PDGFRL CL E G H51578805OMIM:114500Colorectal cancer.2
HP:0006753HP:0006753Neoplasm of the stomach0PIK3CA CL E G H52908975OMIM:114500Colorectal cancer.162
HP:0006753HP:0006753Neoplasm of the stomach0PIK3CA CL E G H52908975OMIM:613659Gastric cancer, somatic162
HP:0006753HP:0006753Neoplasm of the stomach0PLA2G2A CL E G H53209031OMIM:114500Colorectal cancer.1
HP:0006753HP:0006753Neoplasm of the stomach0POT1 CL E G H2591317284ORPHA:618Familial melanomaHP:0040283 - Occasional23
HP:0006753HP:0006753Neoplasm of the stomach0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0006753HP:0006753Neoplasm of the stomach0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0006753HP:0006753Neoplasm of the stomach0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0006753HP:0006753Neoplasm of the stomach0PTPN12 CL E G H57829645OMIM:114500Colorectal cancer.1
HP:0006753HP:0006753Neoplasm of the stomach0PTPRJ CL E G H57959673OMIM:114500Colorectal cancer.3
HP:0006753HP:0006753Neoplasm of the stomach0RAD54B CL E G H2578817228OMIM:114500Colorectal cancer.2
HP:0006753HP:0006753Neoplasm of the stomach0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type X1
HP:0006753HP:0006753Neoplasm of the stomach0SDHA CL E G H638910680ORPHA:44890Gastrointestinal stromal tumorHP:0040281 - Very frequent304
HP:0006753HP:0006753Neoplasm of the stomach0SDHB CL E G H639010681ORPHA:44890Gastrointestinal stromal tumorHP:0040281 - Very frequent237
HP:0006753HP:0006753Neoplasm of the stomach0SDHC CL E G H639110682ORPHA:44890Gastrointestinal stromal tumorHP:0040281 - Very frequent147
HP:0006753HP:0006753Neoplasm of the stomach0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type X48
HP:0006753HP:0006753Neoplasm of the stomach0SMAD4 CL E G H40896770ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coli504
HP:0006753HP:0006753Neoplasm of the stomach0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0006753HP:0006753Neoplasm of the stomach0SRC CL E G H671411283OMIM:114500Colorectal cancer.15
HP:0006753HP:0006753Neoplasm of the stomach0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0006753HP:0006753Neoplasm of the stomach0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0006753HP:0006753Neoplasm of the stomach0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0006753HP:0006753Neoplasm of the stomach0TERF2IP CL E G H5438619246ORPHA:618Familial melanomaHP:0040283 - Occasional
HP:0006753HP:0006753Neoplasm of the stomach0TERT CL E G H701511730ORPHA:618Familial melanomaHP:0040283 - Occasional238
HP:0006753HP:0006753Neoplasm of the stomach0TLR2 CL E G H709711848OMIM:114500Colorectal cancer.5
HP:0006753HP:0006753Neoplasm of the stomach0TP53 CL E G H715711998OMIM:114500Colorectal cancer.911
HP:0006753HP:0006753Neoplasm of the stomach0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0006753HP:0006753Neoplasm of the stomach0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0006753HP:0006753Neoplasm of the stomach0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0006753HP:0031025Gastric leiomyosarcoma1 CL E G H
HP:0006753HP:0012126Stomach cancer1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0006753HP:0004394Multiple gastric polyps1APC CL E G H324583OMIM:175100Adenomatous polyposis coliHP:0040282 - Frequent3179
HP:0006753HP:0004394Multiple gastric polyps1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040282 - Frequent3179
HP:0006753HP:0004394Multiple gastric polyps1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040281 - Very frequent3179
HP:0006753HP:0033770Gastric adenocarcinoma1APC CL E G H324583OMIM:619182GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS3179
HP:0006753HP:0033769Fundic gland polyposis1APC CL E G H324583OMIM:619182GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS3179
HP:0006753HP:0012126Stomach cancer1APC CL E G H324583OMIM:613659Gastric cancer, somatic.3179
HP:0006753HP:0033769Fundic gland polyposis1AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0006753HP:0045038Gastric lymphoma1BCL10 CL E G H8915989OMIM:137245Gastric lymphoma, primary.18
HP:0006753HP:0012126Stomach cancer1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040284 - Very rare314
HP:0006753HP:0012126Stomach cancer1BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040284 - Very rare385
HP:0006753HP:0004394Multiple gastric polyps1BMPR1A CL E G H6571076ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040283 - Occasional385
HP:0006753HP:0004394Multiple gastric polyps1BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndromeHP:0040282 - Frequent385
HP:0006753HP:0012126Stomach cancer1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0006753HP:0012126Stomach cancer1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0006753HP:0012126Stomach cancer1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0006753HP:0012126Stomach cancer1CASP10 CL E G H8431500OMIM:613659Gastric cancer, somatic.87
HP:0006753HP:0012126Stomach cancer1CDH1 CL E G H9991748OMIM:137215Gastric cancer, hereditary diffuse.1003
HP:0006753HP:0012126Stomach cancer1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional289
HP:0006753HP:0012126Stomach cancer1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0006753HP:0012126Stomach cancer1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional833
HP:0006753HP:0012126Stomach cancer1CHEK2 CL E G H1120016627OMIM:609265LI-FRAUMENI SYNDROME 2; LFS2833
HP:0006753HP:0012126Stomach cancer1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0006753HP:0004394Multiple gastric polyps1ENG CL E G H20223349ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040283 - Occasional186
HP:0006753HP:0012126Stomach cancer1ERBB2 CL E G H20643430OMIM:613659Gastric cancer, somatic.77
HP:0006753HP:0012126Stomach cancer1FGFR2 CL E G H22633689OMIM:613659Gastric cancer, somatic.175
HP:0006753HP:0012126Stomach cancer1IL1B CL E G H35535992OMIM:613659Gastric cancer, somatic.2
HP:0006753HP:0012126Stomach cancer1IL1RN CL E G H35576000OMIM:613659Gastric cancer, somatic.40
HP:0006753HP:0012126Stomach cancer1IRF1 CL E G H36596116OMIM:613659Gastric cancer, somatic.2
HP:0006753HP:0012126Stomach cancer1KLF6 CL E G H13162235OMIM:613659Gastric cancer, somatic.18
HP:0006753HP:0012126Stomach cancer1KRAS CL E G H38456407OMIM:613659Gastric cancer, somatic.196
HP:0006753HP:0012126Stomach cancer1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional1
HP:0006753HP:0033770Gastric adenocarcinoma1MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 45
HP:0006753HP:0012126Stomach cancer1MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040282 - Frequent5
HP:0006753HP:0004394Multiple gastric polyps1MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040282 - Frequent5
HP:0006753HP:0012126Stomach cancer1MUTYH CL E G H45957527OMIM:613659Gastric cancer, somatic.592
HP:0006753HP:0012126Stomach cancer1PIK3CA CL E G H52908975OMIM:613659Gastric cancer, somatic.162
HP:0006753HP:0004795Hamartomatous stomach polyps1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0006753HP:0004795Hamartomatous stomach polyps1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0006753HP:0012126Stomach cancer1RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040284 - Very rare1
HP:0006753HP:0012126Stomach cancer1SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040284 - Very rare48
HP:0006753HP:0004394Multiple gastric polyps1SMAD4 CL E G H40896770ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040283 - Occasional504
HP:0006753HP:0004394Multiple gastric polyps1SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndromeHP:0040282 - Frequent504
HP:0006753HP:0004394Multiple gastric polyps1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0006753HP:0012126Stomach cancer1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0006753HP:0004795Hamartomatous stomach polyps1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0006753HP:0012126Stomach cancer1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional911
HP:0006753HP:0004394Multiple gastric polyps1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0006753HP:0012126Stomach cancer1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2


Genes (78) :AAGAB ACD AKT1 APC AURKA AXIN2 BAP1 BAX BCL10 BLM BMPR1A BRAF BUB1 BUB1B BUB3 CASP10 CCND1 CDH1 CDK4 CDKN2A CDKN2B CEP57 CHEK2 COL14A1 CTNNB1 DCC DLC1 ENG EP300 ERBB2 FGFR2 FGFR3 FLCN IL1B IL1RN IRF1 KIT KLF6 KRAS MC1R MCC MDM2 MGMT MITF MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NRAS PDE11A PDGFRA PDGFRL PIK3CA PLA2G2A POT1 PRKAR1A PTCH1 PTCH2 PTPN12 PTPRJ RAD54B RPS20 SDHA SDHB SDHC SEMA4A SMAD4 SRC STK11 SUFU TERF2IP TERT TLR2 TP53 TREX1 TRIP13

Diseases (27) :ORPHA:79501 ORPHA:618 OMIM:114500 OMIM:175100 ORPHA:247806 ORPHA:79665 OMIM:619182 OMIM:613659 OMIM:608615 OMIM:137245 ORPHA:125 ORPHA:440437 ORPHA:329971 OMIM:174900 ORPHA:1052 OMIM:137215 ORPHA:524 OMIM:609265 ORPHA:44890 ORPHA:587 OMIM:617100 ORPHA:480536 ORPHA:1359 OMIM:109400 OMIM:175200 ORPHA:2869 OMIM:225750
 

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