Disease: Cerebellar Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777004
rs587777004
Entrez Id: 3192;116228
Gene Symbol: HNRNPU;COX20
HNRNPU;COX20
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.010 GeneticVariation BEFREE A homozygous mutation (p.Thr52Pro) in COX20 gene has been previously described to cause muscle hypotonia and ataxia. 31079202 2019