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: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT 		0.700 GeneticVariation disease UNIPROT A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. 21115467 2011
CUI: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT 		0.700 GeneticVariation disease CLINVAR
CUI: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT 		0.700 Biomarker disease CTD_human
CUI: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT 		0.700 CausalMutation disease CLINVAR
CUI: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.200 Biomarker disease MGD
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
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		0.100 Biomarker phenotype HPO
CUI: C1836527
Disease: Distal sensory impairment of all modalities
Distal sensory impairment of all modalities 		0.100 Biomarker phenotype HPO
CUI: C1837016
Disease: Gait instability, worse in the dark
Gait instability, worse in the dark 		0.100 Biomarker phenotype HPO
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.010 GeneticVariation disease BEFREE We provide evidence that mutations in the ubiquitin E3 ligase gene RNF170, which targets inositol 1,4,5-trisphosphate receptors for degradation, are the likely cause of autosomal recessive HSP in four unrelated families and functionally evaluate the consequences of mutations in patient fibroblasts, mutant SH-SY5Y cells and by gene knockdown in zebrafish. 31636353 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.010 GeneticVariation disease BEFREE Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. 31636353 2019