NEDD4, NEDD4 E3 ubiquitin protein ligase, 4734

N. diseases: 101; N. variants: 8
Disease: SPINOCEREBELLAR ATAXIA 31 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861736
Disease: SPINOCEREBELLAR ATAXIA 31 (disorder)
SPINOCEREBELLAR ATAXIA 31 (disorder) 		0.010 GeneticVariation disease BEFREE Spinocerebellar ataxia type 31 (SCA31) is defined by the presence of an insertion mutation containing a TGGAA repeat within the intron of the brain-expressed, associated with NEDD4 (BEAN) gene. 22992774 2012