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:0100576 | HP:0100576 | Amaurosis fugax | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | ADRA2B CL E G H | 151 | 282 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 3 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040284 - Very rare | | | 239 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040284 - Very rare | | | 449 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | CNTN2 CL E G H | 6900 | 2172 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 9 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 15 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040283 - Occasional | | | 31 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 57 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | MARCHF6 CL E G H | 10299 | 30550 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040283 - Occasional | | | | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 97 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040284 - Very rare | | | 94 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | SAMD12 CL E G H | 401474 | 31750 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 2 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040284 - Very rare | | | 1053 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 911 | | |
HP:0100576 | HP:0100576 | Amaurosis fugax | 0 | YEATS2 CL E G H | 55689 | 25489 | ORPHA:86814 | Benign adult familial myoclonic epilepsy | HP:0040283 - Occasional | | | 1 | | |