CA8, carbonic anhydrase 8, 767

N. diseases: 87; N. variants: 7
Disease: Cerebellar Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79267946
rs79267946
Entrez Id: 767
Gene Symbol: CA8
CA8
CUI: C0007758
Disease:
Cerebellar Ataxia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs267606695
rs267606695
Entrez Id: 767
Gene Symbol: CA8
CA8
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.010 GeneticVariation BEFREE We demonstrate that the mutation S100P is associated with proteasome-mediated degradation, and thus presumably represents a null mutation comparable to the Ca8 mutation underlying the previously described waddles mouse, which exhibits ataxia and appendicular dystonia. 19461874 2009