rs267606695, CA8

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
0.800 GeneticVariation UNIPROT
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
0.800 CausalMutation CLINVAR
Dystonia
CUI: C0013421
Disease: Dystonia
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
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
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
Ataxia
CUI: C0004134
Disease: 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
Cerebellar Ataxia
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