SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
Disease: Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 GeneticVariation disease BEFREE An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. 25823593 2015