CA8, carbonic anhydrase 8, 767

N. diseases: 87; N. variants: 7
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 Biomarker disease MGD Pathogenesis of severe ataxia and tremor without the typical signs of neurodegeneration. 26586559 2016
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 Biomarker disease GENOMICS_ENGLAND Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 Biomarker disease GENOMICS_ENGLAND Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 21885617 2011
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 21885617 2011
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 GeneticVariation disease UNIPROT CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. 19461874 2009
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 Biomarker disease MGD Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. 16118194 2005
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 Biomarker disease CTD_human
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 CausalMutation disease CLINVAR
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.900 GeneticVariation disease CLINVAR