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:0025646 | HP:0025646 | Bilateral polymicrogyria | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0025646 | HP:0025646 | Bilateral polymicrogyria | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0025646 | HP:0025646 | Bilateral polymicrogyria | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0025646 | HP:0025646 | Bilateral polymicrogyria | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0025646 | HP:0025646 | Bilateral polymicrogyria | 0 | SRPX2 CL E G H | 27286 | 30668 | OMIM:300643 | Rolandic epilepsy, mental retardation, and speech dyspraxia | | | | 50 | | |
HP:0025646 | HP:0032410 | Bilateral generalized polymicrogyria | 1 | CL E G H | | | | | | | | | | |
HP:0025646 | HP:0032407 | Bilateral perisylvian polymicrogyria | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040281 - Very frequent | | | 88 | | |
HP:0025646 | HP:0032407 | Bilateral perisylvian polymicrogyria | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040281 - Very frequent | | | 11 | | |
HP:0025646 | HP:0032407 | Bilateral perisylvian polymicrogyria | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040281 - Very frequent | | | 50 | | |
HP:0025646 | HP:0032407 | Bilateral perisylvian polymicrogyria | 1 | SRPX2 CL E G H | 27286 | 30668 | OMIM:300643 | Rolandic epilepsy, mental retardation, and speech dyspraxia | | | | 50 | | |