Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0002861 | HP:0002861 | Melanoma | 0 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0002861 | Melanoma | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0002861 | Melanoma | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0002861 | Melanoma | 0 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0002861 | Melanoma | 0 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0002861 | Melanoma | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0002861 | Melanoma | 0 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0002861 | Melanoma | 0 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0002861 | Melanoma | 0 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0002861 | Melanoma | 0 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0002861 | Melanoma | 0 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0002861 | Melanoma | 0 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0002861 | Melanoma | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ACD CL E G H | 65057 | 618 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | BAP1 CL E G H | 8314 | 618 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 640 | 1773 | 123829 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDK4 CL E G H | 1019 | 618 | | | | ORPHA | 1 | | 569 | 1773 | 123829 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDKN2A CL E G H | 1029 | 618 | | | | ORPHA | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDKN2A CL E G H | 1029 | 606719 | Melanoma-pancreatic cancer syndrome | 606719 | C1838547 | OMIM | 1 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 101 | 1788 | 600431 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDKN2B CL E G H | 1030 | 618 | | | | ORPHA | 1 | | 99 | 1788 | 600431 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 18 | 1790 | 600927 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | CDKN2D CL E G H | 1032 | 618 | | | | ORPHA | 1 | | 17 | 1790 | 600927 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 100 | 2718 | 600811 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | DDB2 CL E G H | 1643 | 278740 | Xeroderma pigmentosum, group E | 278740 | C1848411 | OMIM | 1 | | 106 | 2718 | 600811 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | MC1R CL E G H | 4157 | 618 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | MGMT CL E G H | 4255 | 618 | | | | ORPHA | 1 | | 94 | 7059 | 156569 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 349 | 7105 | 156845 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | MITF CL E G H | 4286 | 618 | | | | ORPHA | 1 | | 341 | 7105 | 156845 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 212 | 7989 | 164790 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 226 | 7989 | 164790 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 303 | 9181 | 603968 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | POLH CL E G H | 5429 | 90342 | | | | ORPHA | 1 | | 307 | 9181 | 603968 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 1082 | 17284 | 606478 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | POT1 CL E G H | 25913 | 618 | | | | ORPHA | 1 | | 911 | 17284 | 606478 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 48 | 19246 | 605061 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | TERF2IP CL E G H | 54386 | 618 | | | | ORPHA | 1 | | 47 | 19246 | 605061 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1887 | 11730 | 187270 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | TERT CL E G H | 7015 | 618 | | | | ORPHA | 1 | | 1606 | 11730 | 187270 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 221 | 12814 | 611153 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 231 | 12814 | 611153 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HP:0002861 | HP:0012059 | Lentigo maligna melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0012057 | Superficial spreading melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0011524 | Iris melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 518 | 12816 | 613208 |
HP:0002861 | HP:0012054 | Choroidal melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HP:0002861 | HP:0012060 | Acral lentiginous melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HP:0002861 | HP:0012058 | Nodular melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HP:0002861 | HP:0012055 | Ciliary body melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 545 | 12816 | 613208 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002861 | HP:0002861 | Melanoma | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 0 | | 380 | 391 | 164730 |
HP:0002861 | HP:0002861 | Melanoma | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 0 | | 417 | 391 | 164730 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BARD1 CL E G H | 580 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2555 | 952 | 601593 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BARD1 CL E G H | 580 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2773 | 952 | 601593 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 0 | | 680 | 1097 | 164757 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 0 | | 618 | 1097 | 164757 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 12207 | 1100 | 113705 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 12586 | 1100 | 113705 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA1 CL E G H | 672 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 12207 | 1100 | 113705 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA1 CL E G H | 672 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 12586 | 1100 | 113705 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13912 | 1101 | 600185 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 14742 | 1101 | 600185 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA2 CL E G H | 675 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 13912 | 1101 | 600185 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRCA2 CL E G H | 675 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 14742 | 1101 | 600185 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRIP1 CL E G H | 83990 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 3464 | 20473 | 605882 |
HP:0002861 | HP:0002861 | Melanoma | 0 | BRIP1 CL E G H | 83990 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 3778 | 20473 | 605882 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CHEK2 CL E G H | 11200 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 2851 | 16627 | 604373 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CHEK2 CL E G H | 11200 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 2594 | 16627 | 604373 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CHEK2 CL E G H | 11200 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2594 | 16627 | 604373 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CHEK2 CL E G H | 11200 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2851 | 16627 | 604373 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 0 | | 196 | 2528 | 602365 |
HP:0002861 | HP:0002861 | Melanoma | 0 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 0 | | 237 | 2528 | 602365 |
HP:0002861 | HP:0002861 | Melanoma | 0 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 0 | | 248 | 37212 | 612105 |
HP:0002861 | HP:0002861 | Melanoma | 0 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 0 | | 270 | 37212 | 612105 |
HP:0002861 | HP:0002861 | Melanoma | 0 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 331 | 6407 | 190070 |
HP:0002861 | HP:0002861 | Melanoma | 0 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 341 | 6407 | 190070 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MBTPS2 CL E G H | 51360 | 659 | Amyoplasia | | | ORPHA | 0 | | 231 | 15455 | 300294 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MBTPS2 CL E G H | 51360 | 659 | Amyoplasia | | | ORPHA | 0 | | 242 | 15455 | 300294 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MC1R CL E G H | 4157 | 79432 | | | | ORPHA | 0 | | 376 | 6929 | 155555 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MC1R CL E G H | 4157 | 79432 | | | | ORPHA | 0 | | 428 | 6929 | 155555 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MDM2 CL E G H | 4193 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 75 | 6973 | 164785 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MDM2 CL E G H | 4193 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 49 | 6973 | 164785 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MRE11 CL E G H | 4361 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 1258 | 7230 | 600814 |
HP:0002861 | HP:0002861 | Melanoma | 0 | MRE11 CL E G H | 4361 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 1259 | 7230 | 600814 |
HP:0002861 | HP:0002861 | Melanoma | 0 | NBN CL E G H | 4683 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2402 | 7652 | 602667 |
HP:0002861 | HP:0002861 | Melanoma | 0 | NBN CL E G H | 4683 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2640 | 7652 | 602667 |
HP:0002861 | HP:0002861 | Melanoma | 0 | OCA2 CL E G H | 4948 | 79432 | | | | ORPHA | 0 | | 662 | 8101 | 611409 |
HP:0002861 | HP:0002861 | Melanoma | 0 | OCA2 CL E G H | 4948 | 79432 | | | | ORPHA | 0 | | 851 | 8101 | 611409 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 3925 | 26144 | 610355 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 4245 | 26144 | 610355 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PALB2 CL E G H | 79728 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 3925 | 26144 | 610355 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PALB2 CL E G H | 79728 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 4245 | 26144 | 610355 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 546 | 17068 | 608092 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 614 | 17068 | 608092 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PIK3CA CL E G H | 5290 | 201 | | | | ORPHA | 0 | | 544 | 8975 | 171834 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PIK3CA CL E G H | 5290 | 201 | | | | ORPHA | 0 | | 613 | 8975 | 171834 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PTEN CL E G H | 5728 | 201 | | | | ORPHA | 0 | | 2416 | 9588 | 601728 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PTEN CL E G H | 5728 | 201 | | | | ORPHA | 0 | | 2246 | 9588 | 601728 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PTEN CL E G H | 5728 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2246 | 9588 | 601728 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PTEN CL E G H | 5728 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2416 | 9588 | 601728 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PTPN11 CL E G H | 5781 | 500 | | | | ORPHA | 0 | | 629 | 9644 | 176876 |
HP:0002861 | HP:0002861 | Melanoma | 0 | PTPN11 CL E G H | 5781 | 500 | | | | ORPHA | 0 | | 565 | 9644 | 176876 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD50 CL E G H | 10111 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2611 | 9816 | 604040 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD50 CL E G H | 10111 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2928 | 9816 | 604040 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD51 CL E G H | 5888 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 72 | 9817 | 179617 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD51 CL E G H | 5888 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 81 | 9817 | 179617 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD51C CL E G H | 5889 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 1310 | 9820 | 602774 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD51C CL E G H | 5889 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 1422 | 9820 | 602774 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD51D CL E G H | 5892 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 1132 | 9823 | 602954 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAD51D CL E G H | 5892 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 1216 | 9823 | 602954 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAF1 CL E G H | 5894 | 500 | | | | ORPHA | 0 | | 690 | 9829 | 164760 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RAF1 CL E G H | 5894 | 500 | | | | ORPHA | 0 | | 625 | 9829 | 164760 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RNF43 CL E G H | 54894 | 157798 | | | | ORPHA | 0 | | 221 | 18505 | 612482 |
HP:0002861 | HP:0002861 | Melanoma | 0 | RNF43 CL E G H | 54894 | 157798 | | | | ORPHA | 0 | | 322 | 18505 | 612482 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SDHB CL E G H | 6390 | 201 | | | | ORPHA | 0 | | 926 | 10681 | 185470 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SDHB CL E G H | 6390 | 201 | | | | ORPHA | 0 | | 824 | 10681 | 185470 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SDHC CL E G H | 6391 | 201 | | | | ORPHA | 0 | | 575 | 10682 | 602413 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SDHC CL E G H | 6391 | 201 | | | | ORPHA | 0 | | 526 | 10682 | 602413 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SDHD CL E G H | 6392 | 201 | | | | ORPHA | 0 | | 507 | 10683 | 602690 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SDHD CL E G H | 6392 | 201 | | | | ORPHA | 0 | | 442 | 10683 | 602690 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SEC23B CL E G H | 10483 | 201 | | | | ORPHA | 0 | | 236 | 10702 | 610512 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SEC23B CL E G H | 10483 | 201 | | | | ORPHA | 0 | | 222 | 10702 | 610512 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SLC45A2 CL E G H | 51151 | 79435 | | | | ORPHA | 0 | | 162 | 16472 | 606202 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SLC45A2 CL E G H | 51151 | 79435 | | | | ORPHA | 0 | | 267 | 16472 | 606202 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1359 | 6770 | 600993 |
HP:0002861 | HP:0002861 | Melanoma | 0 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1495 | 6770 | 600993 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TP53 CL E G H | 7157 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 2464 | 11998 | 191170 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TP53 CL E G H | 7157 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 2280 | 11998 | 191170 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2280 | 11998 | 191170 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2464 | 11998 | 191170 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TP53 CL E G H | 7157 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2280 | 11998 | 191170 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TP53 CL E G H | 7157 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2464 | 11998 | 191170 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TRPV3 CL E G H | 162514 | 659 | Amyoplasia | | | ORPHA | 0 | | 329 | 18084 | 607066 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TRPV3 CL E G H | 162514 | 659 | Amyoplasia | | | ORPHA | 0 | | 337 | 18084 | 607066 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TYR CL E G H | 7299 | 79434 | | | | ORPHA | 0 | | 259 | 12442 | 606933 |
HP:0002861 | HP:0002861 | Melanoma | 0 | TYR CL E G H | 7299 | 79434 | | | | ORPHA | 0 | | 358 | 12442 | 606933 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 0 | | 417 | 391 | 164730 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 0 | | 417 | 391 | 164730 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 0 | | 380 | 391 | 164730 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 0 | | 380 | 391 | 164730 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BARD1 CL E G H | 580 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2773 | 952 | 601593 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BARD1 CL E G H | 580 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2773 | 952 | 601593 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BARD1 CL E G H | 580 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2555 | 952 | 601593 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BARD1 CL E G H | 580 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 2555 | 952 | 601593 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 0 | | 680 | 1097 | 164757 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 0 | | 680 | 1097 | 164757 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 0 | | 618 | 1097 | 164757 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 0 | | 618 | 1097 | 164757 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 12586 | 1100 | 113705 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 12586 | 1100 | 113705 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 12207 | 1100 | 113705 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 12207 | 1100 | 113705 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRCA1 CL E G H | 672 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 12586 | 1100 | 113705 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRCA1 CL E G H | 672 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 12586 | 1100 | 113705 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRCA1 CL E G H | 672 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 12207 | 1100 | 113705 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRCA1 CL E G H | 672 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 12207 | 1100 | 113705 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 14742 | 1101 | 600185 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 14742 | 1101 | 600185 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13912 | 1101 | 600185 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13912 | 1101 | 600185 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRCA2 CL E G H | 675 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 14742 | 1101 | 600185 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRCA2 CL E G H | 675 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 14742 | 1101 | 600185 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRCA2 CL E G H | 675 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 13912 | 1101 | 600185 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRCA2 CL E G H | 675 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 13912 | 1101 | 600185 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRIP1 CL E G H | 83990 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 3778 | 20473 | 605882 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRIP1 CL E G H | 83990 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 3778 | 20473 | 605882 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | BRIP1 CL E G H | 83990 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 3464 | 20473 | 605882 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | BRIP1 CL E G H | 83990 | 145 | Hereditary breast and ovarian cancer syndrome | | C0677776 | ORPHA | 0 | | 3464 | 20473 | 605882 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2A CL E G H | 1029 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2A CL E G H | 1029 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2A CL E G H | 1029 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2A CL E G H | 1029 | 524 | Acute megakaryoblastic leukemia | | C0023462 | ORPHA | 0 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | 1 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1062 | 1787 | 600160 |
HP:0002861 | HP:0007716 | Uveal melanoma | 1 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 971 | 1787 | 600160 |
HP:0002861 | HP:0012056 | Cutaneous melanoma | |