PITX2, paired like homeodomain 2, 5308

N. diseases: 248; N. variants: 27
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 		0.140 GeneticVariation disease BEFREE Sixty-four patients with AR, iridogoniodysgenesis (IGD), iris hypoplasia (IH), or anterior segment dysgenesis (ASD) were screened for PITX2 mutations by sequencing. 14985297 2004
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		0.140 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
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		0.140 GeneticVariation disease BEFREE To date, reports have shown mutations within the PITX2 gene associated with Rieger syndrome, iridogoniodysgenesis, and iris hypoplasia. 10937553 2000
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		0.140 GeneticVariation disease BEFREE Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. 9437321 1998
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		0.140 Biomarker disease HPO