DHX16, DEAH-box helicase 16, 8449

N. diseases: 24; N. variants: 5
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.010 GeneticVariation disease BEFREE Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in SETX, which encodes the senataxin protein, a DNA/RNA helicase. 24814856 2014