CA8, carbonic anhydrase 8, 767

N. diseases: 87; N. variants: 7
Disease: Dysequilibrium syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.310 GermlineCausalMutation disease ORPHANET We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene. 21812104 2011
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.310 GeneticVariation disease BEFREE We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene. 21812104 2011