Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Neoplasm by histology (HP:0011792)help
..Starting node
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Melanoma (HP:0002861)help
Term ID: 2861
Name: Melanoma
Synonym: Cancer of skin pigment cells; Malignant melanoma; Skin cancer (melanoma)
Definition: The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).
Comments:
Reference: HP:0002861
Genes and Diseases:
 
       Child Nodes:
........expandIntraocular melanoma (HP:0007716) help
................... HP:0011524 Iris melanoma
................... HP:0012054 Choroidal melanoma
................... HP:0012055 Ciliary body melanoma
........expandCutaneous melanoma (HP:0012056) help
................... HP:0012057 Superficial spreading melanoma
................... HP:0012058 Nodular melanoma
................... HP:0012059 Lentigo maligna melanoma
................... HP:0012060 Acral lentiginous melanoma

 Sister Nodes: 
..expandEmbryonal neoplasm (HP:0002898) help
..expandEpithelial neoplasm (HP:0031492) help
..expandFibrous tissue neoplasm (HP:0012316) help
..expandHamartoma (HP:0010566) help
..expandNervous tissue neoplasm (HP:0030060) help
..expandSarcoma (HP:0100242) 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:0002861HP:0002861Melanoma0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040283 - Occasional7
HP:0002861HP:0002861Melanoma0ACD CL E G H6505725070ORPHA:618Familial melanomaHP:0040281 - Very frequent11
HP:0002861HP:0002861Melanoma0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0002861HP:0002861Melanoma0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0002861HP:0002861Melanoma0BAP1 CL E G H8314950ORPHA:618Familial melanomaHP:0040281 - Very frequent184
HP:0002861HP:0002861Melanoma0BAP1 CL E G H8314950OMIM:606661MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2184
HP:0002861HP:0002861Melanoma0BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome184
HP:0002861HP:0002861Melanoma0BAP1 CL E G H8314950ORPHA:39044Uveal melanoma184
HP:0002861HP:0002861Melanoma0BARD1 CL E G H580952ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional790
HP:0002861HP:0002861Melanoma0BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant276
HP:0002861HP:0002861Melanoma0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0002861HP:0002861Melanoma0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0002861HP:0002861Melanoma0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional5769
HP:0002861HP:0002861Melanoma0BRCA1 CL E G H6721100ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional5769
HP:0002861HP:0002861Melanoma0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional7642
HP:0002861HP:0002861Melanoma0BRCA2 CL E G H6751101ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional7642
HP:0002861HP:0002861Melanoma0BRIP1 CL E G H8399020473ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional1086
HP:0002861HP:0002861Melanoma0CDK4 CL E G H10191773ORPHA:618Familial melanomaHP:0040281 - Very frequent145
HP:0002861HP:0002861Melanoma0CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3145
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H10291787ORPHA:618Familial melanomaHP:0040281 - Very frequent289
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional289
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H10291787OMIM:155601Melanoma, cutaneous malignant, susceptibility to, 2289
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H10291787OMIM:155755Melanoma-Astrocytoma syndrome289
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H10291787OMIM:606719Melanoma-Pancreatic cancer syndrome.289
HP:0002861HP:0002861Melanoma0CDKN2B CL E G H10301788ORPHA:618Familial melanomaHP:0040281 - Very frequent1
HP:0002861HP:0002861Melanoma0CHEK2 CL E G H1120016627ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional833
HP:0002861HP:0002861Melanoma0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0002861HP:0002861Melanoma0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040283 - Occasional2
HP:0002861HP:0002861Melanoma0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0002861HP:0002861Melanoma0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0002861HP:0002861Melanoma0CXCR4 CL E G H78522561ORPHA:51636WHIM syndrome9
HP:0002861HP:0002861Melanoma0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanoma1
HP:0002861HP:0002861Melanoma0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0002861HP:0002861Melanoma0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent106
HP:0002861HP:0002861Melanoma0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0002861HP:0002861Melanoma0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0002861HP:0002861Melanoma0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent54
HP:0002861HP:0002861Melanoma0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0002861HP:0002861Melanoma0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent158
HP:0002861HP:0002861Melanoma0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0002861HP:0002861Melanoma0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040282 - Frequent83
HP:0002861HP:0002861Melanoma0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0002861HP:0002861Melanoma0GNA11 CL E G H27674379ORPHA:39044Uveal melanoma16
HP:0002861HP:0002861Melanoma0GNAQ CL E G H27764390ORPHA:39044Uveal melanoma7
HP:0002861HP:0002861Melanoma0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital113
HP:0002861HP:0002861Melanoma0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0002861HP:0002861Melanoma0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040284 - Very rare283
HP:0002861HP:0002861Melanoma0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040284 - Very rare283
HP:0002861HP:0002861Melanoma0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0002861HP:0002861Melanoma0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional196
HP:0002861HP:0002861Melanoma0MBD4 CL E G H89306919OMIM:6199751
HP:0002861HP:0002861Melanoma0MBD4 CL E G H89306919OMIM:606660MELANOMA, UVEAL, SUSCEPTIBILITY TO, 11
HP:0002861HP:0002861Melanoma0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional22
HP:0002861HP:0002861Melanoma0MC1R CL E G H41576929ORPHA:618Familial melanomaHP:0040281 - Very frequent124
HP:0002861HP:0002861Melanoma0MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevus124
HP:0002861HP:0002861Melanoma0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0002861HP:0002861Melanoma0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0002861HP:0002861Melanoma0MGMT CL E G H42557059ORPHA:618Familial melanomaHP:0040281 - Very frequent3
HP:0002861HP:0002861Melanoma0MITF CL E G H42867105ORPHA:618Familial melanomaHP:0040281 - Very frequent91
HP:0002861HP:0002861Melanoma0MITF CL E G H42867105OMIM:614456MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM891
HP:0002861HP:0002861Melanoma0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0002861HP:0002861Melanoma0MRE11 CL E G H43617230ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional532
HP:0002861HP:0002861Melanoma0NBN CL E G H46837652ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional706
HP:0002861HP:0002861Melanoma0NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevus102
HP:0002861HP:0002861Melanoma0NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital102
HP:0002861HP:0002861Melanoma0NRAS CL E G H48937989OMIM:249400Neurocutaneous melanosis, somatic.102
HP:0002861HP:0002861Melanoma0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0002861HP:0002861Melanoma0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional1349
HP:0002861HP:0002861Melanoma0PALB2 CL E G H7972826144ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional1349
HP:0002861HP:0002861Melanoma0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional192
HP:0002861HP:0002861Melanoma0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional
HP:0002861HP:0002861Melanoma0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0002861HP:0002861Melanoma0POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variantHP:0040282 - Frequent155
HP:0002861HP:0002861Melanoma0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type155
HP:0002861HP:0002861Melanoma0POT1 CL E G H2591317284ORPHA:618Familial melanomaHP:0040281 - Very frequent23
HP:0002861HP:0002861Melanoma0POT1 CL E G H2591317284OMIM:615848Melanoma, cutaneous malignant, susceptibility to, 10.23
HP:0002861HP:0002861Melanoma0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0002861HP:0002861Melanoma0PTEN CL E G H57289588ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional948
HP:0002861HP:0002861Melanoma0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0002861HP:0002861Melanoma0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional
HP:0002861HP:0002861Melanoma0RABL3 CL E G H28528218072OMIM:618680PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0002861HP:0002861Melanoma0RAD50 CL E G H101119816ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional789
HP:0002861HP:0002861Melanoma0RAD51 CL E G H58889817ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional9
HP:0002861HP:0002861Melanoma0RAD51C CL E G H58899820ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional391
HP:0002861HP:0002861Melanoma0RAD51D CL E G H58929823ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional345
HP:0002861HP:0002861Melanoma0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0002861HP:0002861Melanoma0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040284 - Very rare445
HP:0002861HP:0002861Melanoma0RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndromeHP:0040284 - Very rare5
HP:0002861HP:0002861Melanoma0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0002861HP:0002861Melanoma0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0002861HP:0002861Melanoma0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0002861HP:0002861Melanoma0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0002861HP:0002861Melanoma0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanoma19
HP:0002861HP:0002861Melanoma0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040283 - Occasional12
HP:0002861HP:0002861Melanoma0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional504
HP:0002861HP:0002861Melanoma0STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant740
HP:0002861HP:0002861Melanoma0TERF2IP CL E G H5438619246ORPHA:618Familial melanomaHP:0040281 - Very frequent
HP:0002861HP:0002861Melanoma0TERT CL E G H701511730ORPHA:618Familial melanomaHP:0040281 - Very frequent238
HP:0002861HP:0002861Melanoma0TERT CL E G H701511730OMIM:615134MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9238
HP:0002861HP:0002861Melanoma0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional911
HP:0002861HP:0002861Melanoma0TP53 CL E G H715711998ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040283 - Occasional911
HP:0002861HP:0002861Melanoma0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0002861HP:0002861Melanoma0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040283 - Occasional151
HP:0002861HP:0002861Melanoma0TYMS CL E G H729812441OMIM:6200401
HP:0002861HP:0002861Melanoma0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040283 - Occasional146
HP:0002861HP:0002861Melanoma0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0002861HP:0002861Melanoma0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0002861HP:0002861Melanoma0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0002861HP:0002861Melanoma0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0002861HP:0002861Melanoma0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0002861HP:0002861Melanoma0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C86
HP:0002861HP:0007716Uveal melanoma1BAP1 CL E G H8314950OMIM:606661MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2184
HP:0002861HP:0012056Cutaneous melanoma1BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome.184
HP:0002861HP:0007716Uveal melanoma1BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome.184
HP:0002861HP:0007716Uveal melanoma1BAP1 CL E G H8314950ORPHA:39044Uveal melanoma184
HP:0002861HP:0007716Uveal melanoma1BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant.276
HP:0002861HP:0012056Cutaneous melanoma1BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant.276
HP:0002861HP:0012056Cutaneous melanoma1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0002861HP:0012056Cutaneous melanoma1CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3.145
HP:0002861HP:0012056Cutaneous melanoma1CDKN2A CL E G H10291787OMIM:155601Melanoma, cutaneous malignant, susceptibility to, 2.289
HP:0002861HP:0012056Cutaneous melanoma1CDKN2A CL E G H10291787OMIM:155755Melanoma-Astrocytoma syndrome.289
HP:0002861HP:0012056Cutaneous melanoma1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0002861HP:0012056Cutaneous melanoma1CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040284 - Very rare9
HP:0002861HP:0007716Uveal melanoma1CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanoma1
HP:0002861HP:0012056Cutaneous melanoma1ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0002861HP:0007716Uveal melanoma1GNA11 CL E G H27674379ORPHA:39044Uveal melanoma16
HP:0002861HP:0007716Uveal melanoma1GNAQ CL E G H27764390ORPHA:39044Uveal melanoma7
HP:0002861HP:0012056Cutaneous melanoma1HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0002861HP:0012056Cutaneous melanoma1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0002861HP:0007716Uveal melanoma1MBD4 CL E G H89306919OMIM:6199751
HP:0002861HP:0007716Uveal melanoma1MBD4 CL E G H89306919OMIM:606660MELANOMA, UVEAL, SUSCEPTIBILITY TO, 11
HP:0002861HP:0012056Cutaneous melanoma1MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevusHP:0040283 - Occasional124
HP:0002861HP:0012056Cutaneous melanoma1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional124
HP:0002861HP:0012056Cutaneous melanoma1MITF CL E G H42867105OMIM:614456MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM891
HP:0002861HP:0012056Cutaneous melanoma1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0002861HP:0012056Cutaneous melanoma1NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevusHP:0040283 - Occasional102
HP:0002861HP:0012056Cutaneous melanoma1NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102
HP:0002861HP:0012056Cutaneous melanoma1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional121
HP:0002861HP:0012056Cutaneous melanoma1POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0002861HP:0007716Uveal melanoma1SF3B1 CL E G H2345110768ORPHA:39044Uveal melanoma19
HP:0002861HP:0007716Uveal melanoma1STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant.740
HP:0002861HP:0012056Cutaneous melanoma1STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant.740
HP:0002861HP:0012056Cutaneous melanoma1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0002861HP:0012056Cutaneous melanoma1XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0002861HP:0012058Nodular melanoma2 CL E G H
HP:0002861HP:0012057Superficial spreading melanoma2 CL E G H
HP:0002861HP:0011524Iris melanoma2BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040282 - Frequent184
HP:0002861HP:0012054Choroidal melanoma2BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040281 - Very frequent184
HP:0002861HP:0012055Ciliary body melanoma2BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040282 - Frequent184
HP:0002861HP:0012059Lentigo maligna melanoma2BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0002861HP:0012054Choroidal melanoma2CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040281 - Very frequent1
HP:0002861HP:0012055Ciliary body melanoma2CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040282 - Frequent1
HP:0002861HP:0011524Iris melanoma2CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040282 - Frequent1
HP:0002861HP:0011524Iris melanoma2GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040282 - Frequent16
HP:0002861HP:0012054Choroidal melanoma2GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040281 - Very frequent16
HP:0002861HP:0012055Ciliary body melanoma2GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040282 - Frequent16
HP:0002861HP:0011524Iris melanoma2GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040282 - Frequent7
HP:0002861HP:0012054Choroidal melanoma2GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040281 - Very frequent7
HP:0002861HP:0012055Ciliary body melanoma2GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040282 - Frequent7
HP:0002861HP:0011524Iris melanoma2SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040282 - Frequent19
HP:0002861HP:0012054Choroidal melanoma2SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040281 - Very frequent19
HP:0002861HP:0012055Ciliary body melanoma2SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040282 - Frequent19
HP:0002861HP:0012060Acral lentiginous melanoma2WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310


Genes (76) :AAGAB ACD AKT1 ANAPC1 BAP1 BARD1 BRAF BRCA1 BRCA2 BRIP1 CDK4 CDKN2A CDKN2B CHEK2 COL14A1 COL7A1 CTSC CXCR4 CYSLTR2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GNA11 GNAQ HRAS KANSL1 KLLN KRAS MBD4 MBTPS2 MC1R MDM2 MGMT MITF MMP1 MRE11 NBN NRAS OCA2 PALB2 PALLD PERP PIK3CA POLH POT1 PTEN PTPN11 RABL3 RAD50 RAD51 RAD51C RAD51D RAF1 RECQL4 RNF43 SDHB SDHC SDHD SEC23B SF3B1 SLC6A17 SMAD4 STK11 TERF2IP TERT TP53 TRPV3 TYMS TYR USF3 WRN XPA XPC

Diseases (50) :ORPHA:79501 ORPHA:618 ORPHA:201 ORPHA:221008 OMIM:606661 OMIM:614327 ORPHA:39044 ORPHA:145 OMIM:155600 OMIM:613706 ORPHA:500 ORPHA:1333 OMIM:609048 ORPHA:524 OMIM:155601 OMIM:155755 OMIM:606719 ORPHA:79408 ORPHA:678 ORPHA:51636 ORPHA:910 OMIM:278740 OMIM:278730 ORPHA:220295 OMIM:610651 OMIM:278800 OMIM:137550 ORPHA:2874 ORPHA:363958 ORPHA:363965 OMIM:619975 OMIM:606660 ORPHA:659 ORPHA:626 ORPHA:79432 OMIM:614456 OMIM:249400 ORPHA:90342 OMIM:278750 OMIM:615848 OMIM:618680 ORPHA:221016 ORPHA:157798 ORPHA:457212 OMIM:615134 OMIM:620040 ORPHA:79434 ORPHA:902 OMIM:278700 OMIM:278720
 

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