RANGAP1, Ran GTPase activating protein 1, 5905

N. diseases: 49; N. variants: 2
Disease: Split-Hand/Foot Malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.010 GeneticVariation disease BEFREE Data shown here provides further evidence for the contribution of DLX5 point mutations to the development of ectrodactyly and suggest the possibility of sex-related segregation distortion with an excess of affected males. 25196357 2014