SNX14, sorting nexin 14, 57231

N. diseases: 59; N. variants: 12
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225355
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 		0.610 GeneticVariation disease BEFREE Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. 27913285 2017
CUI: C4225355
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 		0.610 GermlineCausalMutation disease ORPHANET Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. 25439728 2014
CUI: C4225355
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. 25439728 2014
CUI: C4225355
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 		0.610 GeneticVariation disease CLINVAR
CUI: C4225355
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C4225355
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C4225355
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 		0.610 CausalMutation disease CLINVAR