COX8A, cytochrome c oxidase subunit 8A, 1351

N. diseases: 526; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia
0.140 Biomarker phenotype BEFREE The sensorimotor cerebellum is represented in the anterior lobe with a second representation in lobule VIII, and lesions of these areas lead to the cerebellar motor syndrome of ataxia, dysmetria, dysarthria and impaired oculomotor control. 29997061 2019
CUI: C0004134
Disease: Ataxia
Ataxia
0.140 Biomarker phenotype BEFREE Carbonic anhydrase-related protein VIII (CA8) is an IP<sub>3</sub>R1-regulating protein abundantly expressed in cerebellar Purkinje cells and is a causative gene of congenital ataxia. 30429331 2018
CUI: C0004134
Disease: Ataxia
Ataxia
0.140 GeneticVariation phenotype BEFREE Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish. 23087022 2013
CUI: C0004134
Disease: Ataxia
Ataxia
0.140 Biomarker phenotype BEFREE A mutation in the CA8 gene has been associated with ataxia, mild mental retardation and quadrupedal gait in humans and with lifelong gait disorder in mice, suggesting an important role for CARP VIII in the brain. 20819067 2010
CUI: C0004134
Disease: Ataxia
Ataxia
0.140 Biomarker phenotype HPO