Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040283 - Occasional | | | 20 | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | HP:0040284 - Very rare | | | 193 | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | MMP19 CL E G H | 4327 | 7165 | OMIM:611543 | Cavitary optic disc anomalies | HP:0040284 - Very rare | | | 2 | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | . | | | | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | . | | | 1 | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0500087 | HP:0500087 | Peripapillary atrophy | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | HP:0040284 - Very rare | | | 14 | | |