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:0030222 | HP:0030222 | Visual agnosia | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0030222 | HP:0030222 | Visual agnosia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0030222 | HP:0030222 | Visual agnosia | 0 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0030222 | HP:0030222 | Visual agnosia | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0030222 | HP:0030222 | Visual agnosia | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0030222 | HP:0030222 | Visual agnosia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0030222 | HP:0030222 | Visual agnosia | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0030222 | HP:0030222 | Visual agnosia | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | | | |
HP:0030222 | HP:0030222 | Visual agnosia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 31 | | |