DCAF17, DDB1 and CUL4 associated factor 17, 80067

N. diseases: 59; N. variants: 12
Disease: Dystonia Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.010 GeneticVariation group BEFREE This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia. 20507343 2010