DCAF17, DDB1 and CUL4 associated factor 17, 80067

N. diseases: 59; N. variants: 12
Disease: Weaver syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.030 GeneticVariation disease BEFREE Nine C2orf37 mutations causing WSS have been identified. 24015686 2014
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.030 GeneticVariation disease BEFREE A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. 21963443 2011
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.030 GeneticVariation disease 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