PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 GeneticVariation group BEFREE In the current study, a family with autosomal recessive congenital cataract (ARCC) associated with mental retardation (MR) was examined to identify PITX3 mutations. 20376326 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group HPO