Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm (HP:0002664)help
Parent Node:
expand
Neoplasm by histology (HP:0011792)help
..Starting node
..expand
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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002861HP:0002861Melanoma0ACD CL E G H65057618ORPHA1913525070609377
HP:0002861HP:0002861Melanoma0BAP1 CL E G H8314618ORPHA11191261950603089
HP:0002861HP:0002861Melanoma0CDK4 CL E G H1019618ORPHA1184501773123829
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H1029618ORPHA12438331787600160
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM12438331787600160
HP:0002861HP:0002861Melanoma0CDKN2B CL E G H1030618ORPHA114931788600431
HP:0002861HP:0002861Melanoma0CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0002861Melanoma0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117672718600811
HP:0002861HP:0002861Melanoma0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117672718600811
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H2068220295ORPHA11082273434126340
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11082273434126340
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11082273434126340
HP:0002861HP:0002861Melanoma0ERCC3 CL E G H2071220295ORPHA1201223435133510
HP:0002861HP:0002861Melanoma0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201223435133510
HP:0002861HP:0002861Melanoma0ERCC4 CL E G H2072220295ORPHA1723483436133520
HP:0002861HP:0002861Melanoma0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1723483436133520
HP:0002861HP:0002861Melanoma0ERCC5 CL E G H2073220295ORPHA1592633437133530
HP:0002861HP:0002861Melanoma0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1592633437133530
HP:0002861HP:0002861Melanoma0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11404993438609413
HP:0002861HP:0002861Melanoma0MC1R CL E G H4157618ORPHA11093326929155555
HP:0002861HP:0002861Melanoma0MGMT CL E G H4255618ORPHA19877059156569
HP:0002861HP:0002861Melanoma0MITF CL E G H4286618ORPHA1612407105156845
HP:0002861HP:0002861Melanoma0NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM1141817989164790
HP:0002861HP:0002861Melanoma0POLH CL E G H542990342ORPHA1802719181603968
HP:0002861HP:0002861Melanoma0POT1 CL E G H25913618ORPHA14265917284606478
HP:0002861HP:0002861Melanoma0TERF2IP CL E G H54386618ORPHA163919246605061
HP:0002861HP:0002861Melanoma0TERT CL E G H7015618ORPHA1173115911730187270
HP:0002861HP:0002861Melanoma0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15115512814611153
HP:0002861HP:0002861Melanoma0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15115512814611153
HP:0002861HP:0002861Melanoma0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110030712816613208
HP:0002861HP:0002861Melanoma1ACD CL E G H65057618ORPHA1913525070609377
HP:0002861HP:0002861Melanoma1BAP1 CL E G H8314618ORPHA11191261950603089
HP:0002861HP:0002861Melanoma1CDK4 CL E G H1019618ORPHA1184501773123829
HP:0002861HP:0002861Melanoma1CDKN2A CL E G H1029618ORPHA12438331787600160
HP:0002861HP:0002861Melanoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM12438331787600160
HP:0002861HP:0002861Melanoma1CDKN2B CL E G H1030618ORPHA114931788600431
HP:0002861HP:0002861Melanoma1CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0002861Melanoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117672718600811
HP:0002861HP:0002861Melanoma1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117672718600811
HP:0002861HP:0002861Melanoma1ERCC2 CL E G H2068220295ORPHA11082273434126340
HP:0002861HP:0002861Melanoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11082273434126340
HP:0002861HP:0002861Melanoma1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11082273434126340
HP:0002861HP:0002861Melanoma1ERCC3 CL E G H2071220295ORPHA1201223435133510
HP:0002861HP:0002861Melanoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201223435133510
HP:0002861HP:0002861Melanoma1ERCC4 CL E G H2072220295ORPHA1723483436133520
HP:0002861HP:0002861Melanoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1723483436133520
HP:0002861HP:0002861Melanoma1ERCC5 CL E G H2073220295ORPHA1592633437133530
HP:0002861HP:0002861Melanoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1592633437133530
HP:0002861HP:0002861Melanoma1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11404993438609413
HP:0002861HP:0002861Melanoma1MC1R CL E G H4157618ORPHA11093326929155555
HP:0002861HP:0002861Melanoma1MGMT CL E G H4255618ORPHA19877059156569
HP:0002861HP:0002861Melanoma1MITF CL E G H4286618ORPHA1612407105156845
HP:0002861HP:0002861Melanoma1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM1141817989164790
HP:0002861HP:0002861Melanoma1POLH CL E G H542990342ORPHA1802719181603968
HP:0002861HP:0002861Melanoma1POT1 CL E G H25913618ORPHA14265917284606478
HP:0002861HP:0002861Melanoma1TERF2IP CL E G H54386618ORPHA163919246605061
HP:0002861HP:0002861Melanoma1TERT CL E G H7015618ORPHA1173115911730187270
HP:0002861HP:0002861Melanoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15115512814611153
HP:0002861HP:0002861Melanoma1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15115512814611153
HP:0002861HP:0002861Melanoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110030712816613208
HP:0002861HP:0002861Melanoma2ACD CL E G H65057618ORPHA1913525070609377
HP:0002861HP:0002861Melanoma2BAP1 CL E G H8314618ORPHA11191261950603089
HP:0002861HP:0002861Melanoma2CDK4 CL E G H1019618ORPHA1184501773123829
HP:0002861HP:0002861Melanoma2CDKN2A CL E G H1029618ORPHA12438331787600160
HP:0002861HP:0002861Melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM12438331787600160
HP:0002861HP:0002861Melanoma2CDKN2B CL E G H1030618ORPHA114931788600431
HP:0002861HP:0002861Melanoma2CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0002861Melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117672718600811
HP:0002861HP:0002861Melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117672718600811
HP:0002861HP:0002861Melanoma2ERCC2 CL E G H2068220295ORPHA11082273434126340
HP:0002861HP:0002861Melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11082273434126340
HP:0002861HP:0002861Melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11082273434126340
HP:0002861HP:0002861Melanoma2ERCC3 CL E G H2071220295ORPHA1201223435133510
HP:0002861HP:0002861Melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201223435133510
HP:0002861HP:0002861Melanoma2ERCC4 CL E G H2072220295ORPHA1723483436133520
HP:0002861HP:0002861Melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1723483436133520
HP:0002861HP:0002861Melanoma2ERCC5 CL E G H2073220295ORPHA1592633437133530
HP:0002861HP:0002861Melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1592633437133530
HP:0002861HP:0002861Melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11404993438609413
HP:0002861HP:0002861Melanoma2MC1R CL E G H4157618ORPHA11093326929155555
HP:0002861HP:0002861Melanoma2MGMT CL E G H4255618ORPHA19877059156569
HP:0002861HP:0002861Melanoma2MITF CL E G H4286618ORPHA1612407105156845
HP:0002861HP:0002861Melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM1141817989164790
HP:0002861HP:0002861Melanoma2POLH CL E G H542990342ORPHA1802719181603968
HP:0002861HP:0002861Melanoma2POT1 CL E G H25913618ORPHA14265917284606478
HP:0002861HP:0002861Melanoma2TERF2IP CL E G H54386618ORPHA163919246605061
HP:0002861HP:0002861Melanoma2TERT CL E G H7015618ORPHA1173115911730187270
HP:0002861HP:0002861Melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15115512814611153
HP:0002861HP:0002861Melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15115512814611153
HP:0002861HP:0002861Melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110030712816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002861HP:0002861Melanoma0AKT1 CL E G H207201ORPHA012269391164730
HP:0002861HP:0002861Melanoma0BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA01252208952601593
HP:0002861HP:0002861Melanoma0BRAF CL E G H673500ORPHA0684901097164757
HP:0002861HP:0002861Melanoma0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA02824114981100113705
HP:0002861HP:0002861Melanoma0BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA02824114981100113705
HP:0002861HP:0002861Melanoma0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA03025127061101600185
HP:0002861HP:0002861Melanoma0BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA03025127061101600185
HP:0002861HP:0002861Melanoma0BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0202305020473605882
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA02438331787600160
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA02438331787600160
HP:0002861HP:0002861Melanoma0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA0213226016627604373
HP:0002861HP:0002861Melanoma0CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0213226016627604373
HP:0002861HP:0002861Melanoma0CTSC CL E G H1075678ORPHA0961402528602365
HP:0002861HP:0002861Melanoma0KLLN CL E G H100144748201ORPHA0823837212612105
HP:0002861HP:0002861Melanoma0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA0452746407190070
HP:0002861HP:0002861Melanoma0MBTPS2 CL E G H51360659AmyoplasiaORPHA02620715455300294
HP:0002861HP:0002861Melanoma0MC1R CL E G H415779432ORPHA01093326929155555
HP:0002861HP:0002861Melanoma0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA08306973164785
HP:0002861HP:0002861Melanoma0MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA05711047230600814
HP:0002861HP:0002861Melanoma0NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA014820457652602667
HP:0002861HP:0002861Melanoma0OCA2 CL E G H494879432ORPHA03165388101611409
HP:0002861HP:0002861Melanoma0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0417350326144610355
HP:0002861HP:0002861Melanoma0PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0417350326144610355
HP:0002861HP:0002861Melanoma0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0439517068608092
HP:0002861HP:0002861Melanoma0PIK3CA CL E G H5290201ORPHA0573798975171834
HP:0002861HP:0002861Melanoma0PTEN CL E G H5728201ORPHA065820199588601728
HP:0002861HP:0002861Melanoma0PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA065820199588601728
HP:0002861HP:0002861Melanoma0PTPN11 CL E G H5781500ORPHA01434759644176876
HP:0002861HP:0002861Melanoma0RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA09522069816604040
HP:0002861HP:0002861Melanoma0RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA016369817179617
HP:0002861HP:0002861Melanoma0RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA013111309820602774
HP:0002861HP:0002861Melanoma0RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0869739823602954
HP:0002861HP:0002861Melanoma0RAF1 CL E G H5894500ORPHA0545089829164760
HP:0002861HP:0002861Melanoma0RNF43 CL E G H54894157798ORPHA0126518505612482
HP:0002861HP:0002861Melanoma0SDHB CL E G H6390201ORPHA027966710681185470
HP:0002861HP:0002861Melanoma0SDHC CL E G H6391201ORPHA06241510682602413
HP:0002861HP:0002861Melanoma0SDHD CL E G H6392201ORPHA017436110683602690
HP:0002861HP:0002861Melanoma0SEC23B CL E G H10483201ORPHA012614310702610512
HP:0002861HP:0002861Melanoma0SLC45A2 CL E G H5115179435ORPHA016112416472606202
HP:0002861HP:0002861Melanoma0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA014712576770600993
HP:0002861HP:0002861Melanoma0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA0541203511998191170
HP:0002861HP:0002861Melanoma0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0541203511998191170
HP:0002861HP:0002861Melanoma0TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0541203511998191170
HP:0002861HP:0002861Melanoma0TRPV3 CL E G H162514659AmyoplasiaORPHA01727718084607066
HP:0002861HP:0002861Melanoma0TYR CL E G H729979434ORPHA044522612442606933
HP:0002861HP:0002861Melanoma1AKT1 CL E G H207201ORPHA012269391164730
HP:0002861HP:0002861Melanoma1BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA01252208952601593
HP:0002861HP:0002861Melanoma1BRAF CL E G H673500ORPHA0684901097164757
HP:0002861HP:0002861Melanoma1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA02824114981100113705
HP:0002861HP:0002861Melanoma1BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA02824114981100113705
HP:0002861HP:0002861Melanoma1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA03025127061101600185
HP:0002861HP:0002861Melanoma1BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA03025127061101600185
HP:0002861HP:0002861Melanoma1BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0202305020473605882
HP:0002861HP:0002861Melanoma1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA02438331787600160
HP:0002861HP:0002861Melanoma1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA02438331787600160
HP:0002861HP:0002861Melanoma1CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA0213226016627604373
HP:0002861HP:0002861Melanoma1CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0213226016627604373
HP:0002861HP:0002861Melanoma1CTSC CL E G H1075678ORPHA0961402528602365
HP:0002861HP:0002861Melanoma1KLLN CL E G H100144748201ORPHA0823837212612105
HP:0002861HP:0002861Melanoma1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA0452746407190070
HP:0002861HP:0002861Melanoma1MBTPS2 CL E G H51360659AmyoplasiaORPHA02620715455300294
HP:0002861HP:0002861Melanoma1MC1R CL E G H415779432ORPHA01093326929155555
HP:0002861HP:0002861Melanoma1MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA08306973164785
HP:0002861HP:0002861Melanoma1MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA05711047230600814
HP:0002861HP:0002861Melanoma1NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA014820457652602667
HP:0002861HP:0002861Melanoma1OCA2 CL E G H494879432ORPHA03165388101611409
HP:0002861HP:0002861Melanoma1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0417350326144610355
HP:0002861HP:0002861Melanoma1PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0417350326144610355
HP:0002861HP:0002861Melanoma1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0439517068608092
HP:0002861HP:0002861Melanoma1PIK3CA CL E G H5290201ORPHA0573798975171834
HP:0002861HP:0002861Melanoma1PTEN CL E G H5728201ORPHA065820199588601728
HP:0002861HP:0002861Melanoma1PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA065820199588601728
HP:0002861HP:0002861Melanoma1PTPN11 CL E G H5781500ORPHA01434759644176876
HP:0002861HP:0002861Melanoma1RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA09522069816604040
HP:0002861HP:0002861Melanoma1RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA016369817179617
HP:0002861HP:0002861Melanoma1RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA013111309820602774
HP:0002861HP:0002861Melanoma1RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0869739823602954
HP:0002861HP:0002861Melanoma1RAF1 CL E G H5894500ORPHA0545089829164760
HP:0002861HP:0002861Melanoma1RNF43 CL E G H54894157798ORPHA0126518505612482
HP:0002861HP:0002861Melanoma1SDHB CL E G H6390201ORPHA027966710681185470
HP:0002861HP:0002861Melanoma1SDHC CL E G H6391201ORPHA06241510682602413
HP:0002861HP:0002861Melanoma1SDHD CL E G H6392201ORPHA017436110683602690
HP:0002861HP:0002861Melanoma1SEC23B CL E G H10483201ORPHA012614310702610512
HP:0002861HP:0002861Melanoma1SLC45A2 CL E G H5115179435ORPHA016112416472606202
HP:0002861HP:0002861Melanoma1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA014712576770600993
HP:0002861HP:0002861Melanoma1TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA0541203511998191170
HP:0002861HP:0002861Melanoma1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0541203511998191170
HP:0002861HP:0002861Melanoma1TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0541203511998191170
HP:0002861HP:0002861Melanoma1TRPV3 CL E G H162514659AmyoplasiaORPHA01727718084607066
HP:0002861HP:0002861Melanoma1TYR CL E G H729979434ORPHA044522612442606933
HP:0002861HP:0002861Melanoma2AKT1 CL E G H207201ORPHA012269391164730
HP:0002861HP:0002861Melanoma2BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA01252208952601593
HP:0002861HP:0002861Melanoma2BRAF CL E G H673500ORPHA0684901097164757
HP:0002861HP:0002861Melanoma2BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA02824114981100113705
HP:0002861HP:0002861Melanoma2BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA02824114981100113705
HP:0002861HP:0002861Melanoma2BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA03025127061101600185
HP:0002861HP:0002861Melanoma2BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA03025127061101600185
HP:0002861HP:0002861Melanoma2BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0202305020473605882
HP:0002861HP:0002861Melanoma2CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA02438331787600160
HP:0002861HP:0002861Melanoma2CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA02438331787600160
HP:0002861HP:0002861Melanoma2CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA0213226016627604373
HP:0002861HP:0002861Melanoma2CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0213226016627604373
HP:0002861HP:0002861Melanoma2CTSC CL E G H1075678ORPHA0961402528602365
HP:0002861HP:0002861Melanoma2KLLN CL E G H100144748201ORPHA0823837212612105
HP:0002861HP:0002861Melanoma2KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA0452746407190070
HP:0002861HP:0002861Melanoma2MBTPS2 CL E G H51360659AmyoplasiaORPHA02620715455300294
HP:0002861HP:0002861Melanoma2MC1R CL E G H415779432ORPHA01093326929155555
HP:0002861HP:0002861Melanoma2MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA08306973164785
HP:0002861HP:0002861Melanoma2MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA05711047230600814
HP:0002861HP:0002861Melanoma2NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA014820457652602667
HP:0002861HP:0002861Melanoma2OCA2 CL E G H494879432ORPHA03165388101611409
HP:0002861HP:0002861Melanoma2PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0417350326144610355
HP:0002861HP:0002861Melanoma2PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0417350326144610355
HP:0002861HP:0002861Melanoma2PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0439517068608092
HP:0002861HP:0002861Melanoma2PIK3CA CL E G H5290201ORPHA0573798975171834
HP:0002861HP:0002861Melanoma2PTEN CL E G H5728201ORPHA065820199588601728
HP:0002861HP:0002861Melanoma2PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA065820199588601728
HP:0002861HP:0002861Melanoma2PTPN11 CL E G H5781500ORPHA01434759644176876
HP:0002861HP:0002861Melanoma2RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA09522069816604040
HP:0002861HP:0002861Melanoma2RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA016369817179617
HP:0002861HP:0002861Melanoma2RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA013111309820602774
HP:0002861HP:0002861Melanoma2RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0869739823602954
HP:0002861HP:0002861Melanoma2RAF1 CL E G H5894500ORPHA0545089829164760
HP:0002861HP:0002861Melanoma2RNF43 CL E G H54894157798ORPHA0126518505612482
HP:0002861HP:0002861Melanoma2SDHB CL E G H6390201ORPHA027966710681185470
HP:0002861HP:0002861Melanoma2SDHC CL E G H6391201ORPHA06241510682602413
HP:0002861HP:0002861Melanoma2SDHD CL E G H6392201ORPHA017436110683602690
HP:0002861HP:0002861Melanoma2SEC23B CL E G H10483201ORPHA012614310702610512
HP:0002861HP:0002861Melanoma2SLC45A2 CL E G H5115179435ORPHA016112416472606202
HP:0002861HP:0002861Melanoma2SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA014712576770600993
HP:0002861HP:0002861Melanoma2TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA0541203511998191170
HP:0002861HP:0002861Melanoma2TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0541203511998191170
HP:0002861HP:0002861Melanoma2TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0541203511998191170
HP:0002861HP:0002861Melanoma2TRPV3 CL E G H162514659AmyoplasiaORPHA01727718084607066
HP:0002861HP:0002861Melanoma2TYR CL E G H729979434ORPHA044522612442606933


Genes (63) :ACD AKT1 BAP1 BARD1 BRAF BRCA1 BRCA2 BRIP1 CDK4 CDKN2A CDKN2B CDKN2D CHEK2 CTSC CYSLTR2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GNA11 GNAQ HRAS KLLN KRAS MBTPS2 MC1R MDM2 MGMT MITF MRE11 NBN NRAS OCA2 PALB2 PALLD PIK3CA POLH POT1 PTEN PTPN11 RAD50 RAD51 RAD51C RAD51D RAF1 RNF43 SDHB SDHC SDHD SEC23B SF3B1 SLC45A2 SMAD4 TERF2IP TERT TP53 TRPV3 TYR WRN XPA XPC

Diseases (30) :618 201 145 500 1333 524 606719 678 910 278740 220295 278730 278800 659 79432 249400 90342 157798 79435 79434 278700 614327 155755 610651 137550 626 278750 278720 39044 902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.