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:0007987 | HP:0007987 | Progressive visual field defects | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0007987 | HP:0007987 | Progressive visual field defects | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0007987 | HP:0007987 | Progressive visual field defects | 0 | PRPF3 CL E G H | 9129 | 17348 | OMIM:601414 | Retinitis pigmentosa 18 | . | | | 28 | | |
HP:0007987 | HP:0007987 | Progressive visual field defects | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 159 | | |
HP:0007987 | HP:0007987 | Progressive visual field defects | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 32 | | |
HP:0007987 | HP:0007987 | Progressive visual field defects | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 107 | | |
HP:0007987 | HP:0007987 | Progressive visual field defects | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 47 | | |