Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002861 | HP:0002861 | Melanoma | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040283 - Occasional | | | 7 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 11 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 184 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:606661 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 | | | | 184 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | | | | 184 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | | | | 184 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BARD1 CL E G H | 580 | 952 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 790 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRAF CL E G H | 673 | 1097 | OMIM:155600 | Melanoma, cutaneous malignant | | | | 276 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 276 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 5769 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 7642 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 1086 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDK4 CL E G H | 1019 | 1773 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 145 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDK4 CL E G H | 1019 | 1773 | OMIM:609048 | Melanoma, cutaneous malignant, susceptibility to, 3 | | | | 145 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 289 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 289 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 289 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155601 | Melanoma, cutaneous malignant, susceptibility to, 2 | | | | 289 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155755 | Melanoma-Astrocytoma syndrome | | | | 289 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:606719 | Melanoma-Pancreatic cancer syndrome | . | | | 289 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 833 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 263 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | | | | 1 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 30 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | . | | | 30 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 106 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | . | | | 106 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 106 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 54 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | | | | 54 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 54 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 158 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 158 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 83 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 83 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | . | | | 199 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | | | | 16 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | | | | 7 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | | | | 113 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040284 - Very rare | | | 283 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040284 - Very rare | | | 283 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 196 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:606660 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 | | | | 1 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040283 - Occasional | | | 22 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 124 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:626 | Large congenital melanocytic nevus | | | | 124 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 124 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MGMT CL E G H | 4255 | 7059 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 3 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 91 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MITF CL E G H | 4286 | 7105 | OMIM:614456 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 | | | | 91 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 6 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 532 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 706 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:626 | Large congenital melanocytic nevus | | | | 102 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | | | | 102 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | . | | | 102 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 121 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 1349 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 1349 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 192 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040283 - Occasional | | | | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | POLH CL E G H | 5429 | 9181 | ORPHA:90342 | Xeroderma pigmentosum variant | HP:0040282 - Frequent | | | 155 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | | | | 155 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | POT1 CL E G H | 25913 | 17284 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 23 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | POT1 CL E G H | 25913 | 17284 | OMIM:615848 | Melanoma, cutaneous malignant, susceptibility to, 10 | . | | | 23 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 291 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | RABL3 CL E G H | 285282 | 18072 | OMIM:618680 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 | | | | | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD50 CL E G H | 10111 | 9816 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 789 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 391 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD51D CL E G H | 5892 | 9823 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 212 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040284 - Very rare | | | 445 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | | | | 19 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 504 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:155600 | Melanoma, cutaneous malignant | | | | 740 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | TERF2IP CL E G H | 54386 | 19246 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:618 | Familial melanoma | HP:0040281 - Very frequent | | | 238 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | TERT CL E G H | 7015 | 11730 | OMIM:615134 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9 | | | | 238 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 911 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 911 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040283 - Occasional | | | 151 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040283 - Occasional | | | 146 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 34 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPA CL E G H | 7507 | 12814 | OMIM:278700 | Xeroderma pigmentosum, complementation group A | . | | | 34 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 86 | | |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | | | | 86 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:606661 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 | | | | 184 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | . | | | 184 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | . | | | 184 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | | | | 184 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRAF CL E G H | 673 | 1097 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 276 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRAF CL E G H | 673 | 1097 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 276 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDK4 CL E G H | 1019 | 1773 | OMIM:609048 | Melanoma, cutaneous malignant, susceptibility to, 3 | . | | | 145 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155601 | Melanoma, cutaneous malignant, susceptibility to, 2 | . | | | 289 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155755 | Melanoma-Astrocytoma syndrome | . | | | 289 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | | | | 1 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | | | | 16 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | | | | 7 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 113 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | MBD4 CL E G H | 8930 | 6919 | OMIM:606660 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 | | | | 1 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:626 | Large congenital melanocytic nevus | HP:0040283 - Occasional | | | 124 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040283 - Occasional | | | 124 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | MITF CL E G H | 4286 | 7105 | OMIM:614456 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 | | | | 91 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:626 | Large congenital melanocytic nevus | HP:0040283 - Occasional | | | 102 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 102 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | . | | | 155 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | | | | 19 | | |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | STK11 CL E G H | 6794 | 11389 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 740 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | STK11 CL E G H | 6794 | 11389 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 740 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CL E G H | | | | | | | | | | |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CL E G H | | | | | | | | | | |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 184 | | |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 184 | | |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 184 | | |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 1 | | |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 1 | | |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 16 | | |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 16 | | |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 16 | | |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 7 | | |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 7 | | |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 19 | | |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 19 | | |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 19 | | |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |