DPF2, double PHD fingers 2, 5977

N. diseases: 99; N. variants: 6
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.100 CausalMutation disease CLINVAR Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018