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:0011499 | HP:0011499 | Mydriasis | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:613834 | Multisystemic smooth muscle dysfunction syndrome | . | HP:0003577 - Congenital onset | | 94 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 239 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 150 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 184 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 449 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 1 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 16 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 7 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | . | | | 3 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | MYL9 CL E G H | 10398 | 15754 | OMIM:619365 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4 | | | | | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040283 - Occasional | | | 75 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040283 - Occasional | | | 19 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 63 | | |
HP:0011499 | HP:0011499 | Mydriasis | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0011499 | HP:0007932 | Bilateral congenital mydriasis | 1 | CL E G H | | | | | | | | | | |