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:0030147 | HP:0030147 | Truncal titubation | 0 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0030147 | HP:0030147 | Truncal titubation | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0030147 | HP:0030147 | Truncal titubation | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0030147 | HP:0030147 | Truncal titubation | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | . | | | | | |
HP:0030147 | HP:0030147 | Truncal titubation | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0030147 | HP:0030147 | Truncal titubation | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0030147 | HP:0030147 | Truncal titubation | 0 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |