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:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | . | | | 35 | | |
HP:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | ATCAY CL E G H | 85300 | 779 | ORPHA:94122 | Cerebellar ataxia, Cayman type | HP:0040281 - Very frequent | | | 72 | | |
HP:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | HP:0040281 - Very frequent | | | 19 | | |
HP:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | DNAJC19 CL E G H | 131118 | 30528 | OMIM:610198 | 3-@methylglutaconic aciduria, type V | . | | | 25 | | |
HP:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | . | | | 177 | | |
HP:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0002470 | HP:0002470 | Nonprogressive cerebellar ataxia | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040282 - Frequent | | | | | |