RNF170, ring finger protein 170, 81790

N. diseases: 11; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
0.120 GeneticVariation phenotype BEFREE Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia. 26433933 2015
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
0.120 GeneticVariation phenotype BEFREE Together these results suggest that the mutation in RNF170 is causal for the sensory ataxia in these families. 21115467 2011
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
0.120 Biomarker phenotype HPO