DLX2, distal-less homeobox 2, 1746

N. diseases: 34; N. variants: 2
Disease: Axenfeld-Rieger syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome 		0.010 GeneticVariation disease BEFREE This mutation is associated with iris hypoplasia (IH); in contrast a Rieger syndrome mutation, PITX2 T68P, which presents clinically with the full spectrum of developmental anomalies (including tooth anomalies), is unable to transactivate the Dlx2 promoter. 11929847 2002