RUBCN, rubicon autophagy regulator, 9711

N. diseases: 36; N. variants: 3
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810326
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 		0.600 GermlineCausalMutation disease ORPHANET We previously described a new form of recessive ataxia, Salih ataxia, in a large consanguineous Saudi Arabian family with three affected children carrying a new identified mutation in the KIAA0226 gene (c.2624delC; p.Ala875ValfsX146) coding for Rubicon. 23728897 2013
CUI: C3810326
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 		0.600 Biomarker disease GENOMICS_ENGLAND Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. 20826435 2010
CUI: C3810326
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 		0.600 Biomarker disease GENOMICS_ENGLAND Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. 20826435 2010
CUI: C3810326
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 		0.600 CausalMutation disease CLINVAR