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:0010953 | HP:0010953 | Noncommunicating hydrocephalus | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0010953 | HP:0010953 | Noncommunicating hydrocephalus | 0 | FOXJ1 CL E G H | 2302 | 3816 | OMIM:618699 | CILIARY DYSKINESIA, PRIMARY, 43; CILD43 | | | | | | |
HP:0010953 | HP:0010953 | Noncommunicating hydrocephalus | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 23 | | |
HP:0010953 | HP:0010953 | Noncommunicating hydrocephalus | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0010953 | HP:0010953 | Noncommunicating hydrocephalus | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 1090 | | |
HP:0010953 | HP:0010953 | Noncommunicating hydrocephalus | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040283 - Occasional | | | 2738 | | |