DLX2, distal-less homeobox 2, 1746

N. diseases: 34; N. variants: 2
Disease: Hypoplasia of iris ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		0.010 AlteredExpression disease BEFREE Since Dlx2 expression is required for tooth and craniofacial development the lack of tooth anomalies in the patient with IH may be due to the residual activity of this mutant in activating the Dlx2 promoter. 11929847 2002