PITX1, paired like homeodomain 1, 5307

N. diseases: 109; N. variants: 5
Disease: Radial polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		0.010 GeneticVariation disease BEFREE Analysis of DNA from additional individuals with isolated lower-limb malformations and higher-degree polydactyly identified a third individual with long-bone deficiency and preaxial polydactyly harboring a heterozygous 35 bp deletion in PITX1. 22258522 2012