Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:606661 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 | | | | 184 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | | | | 184 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | | | | 184 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | BRAF CL E G H | 673 | 1097 | OMIM:155600 | Melanoma, cutaneous malignant | | | | 276 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | | | | 1 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | CHEK2 CL E G H | 11200 | 16627 | OMIM:259500 | Osteosarcoma | | | | 833 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | | | | 1 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | | | | 16 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | | | | 7 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 100 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 45 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:606660 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 | | | | 1 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040281 - Very frequent | | | 39 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | | | | 220 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | | | | 365 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | RB1 CL E G H | 5925 | 9884 | OMIM:259500 | Osteosarcoma | | | | 365 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | RB1 CL E G H | 5925 | 9884 | OMIM:180200 | RETINOBLASTOMA | | | | 365 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | | | | 19 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:155600 | Melanoma, cutaneous malignant | | | | 740 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:259500 | Osteosarcoma | | | | 911 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 1090 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 2738 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | | | | 490 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | CL E G H | | | | | | | | | | |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | CL E G H | | | | | | | | | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:606661 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 | | | | 184 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | . | | | 184 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | | | | 184 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | BRAF CL E G H | 673 | 1097 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 276 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | | | | 1 | | |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | CHEK2 CL E G H | 11200 | 16627 | OMIM:259500 | Osteosarcoma | | | | 833 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | | | | 1 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | | | | 16 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | | | | 7 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 100 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 45 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | MBD4 CL E G H | 8930 | 6919 | OMIM:606660 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 | | | | 1 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | | | | 220 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | | | | 365 | | |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | RB1 CL E G H | 5925 | 9884 | OMIM:259500 | Osteosarcoma | | | | 365 | | |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | RB1 CL E G H | 5925 | 9884 | OMIM:180200 | RETINOBLASTOMA | | | | 365 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | | | | 19 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | STK11 CL E G H | 6794 | 11389 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 740 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:259500 | Osteosarcoma | | | | 911 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 1090 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 2738 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | | | | 490 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 184 | | |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 184 | | |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 184 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | | | | 1 | | |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | CHEK2 CL E G H | 11200 | 16627 | OMIM:259500 | Osteosarcoma | . | | | 833 | | |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 1 | | |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 1 | | |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 16 | | |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 16 | | |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 16 | | |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 7 | | |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 7 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040283 - Occasional | | | 100 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040283 - Occasional | | | 45 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040282 - Frequent | | | 1952 | | |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | . | | | 1952 | | |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040282 - Frequent | | | 365 | | |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | RB1 CL E G H | 5925 | 9884 | OMIM:259500 | Osteosarcoma | . | | | 365 | | |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | RB1 CL E G H | 5925 | 9884 | OMIM:180200 | RETINOBLASTOMA | . | | | 365 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 19 | | |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040281 - Very frequent | | | 19 | | |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 19 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | TP53 CL E G H | 7157 | 11998 | OMIM:259500 | Osteosarcoma | . | | | 911 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 1090 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 2738 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | | | | 490 | | |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | CL E G H | | | | | | | | | | |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | CL E G H | | | | | | | | | | |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | CL E G H | | | | | | | | | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 1 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 301 | | |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 23 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 202 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 84 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 4 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 1952 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 572 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 304 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 55 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 237 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 147 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 129 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 131 | | |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 1090 | | |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 2738 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 490 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 490 | | |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |