PITX1, paired like homeodomain 1, 5307

N. diseases: 109; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.330 GeneticVariation disease BEFREE Heterozygous variants in the GLI3, ZRS/SHH, and PITX1 have been associated with autosomal dominant polydactyly, while homozygous variants in the ZNF141, IQCE, GLI1, and FAM92A have been associated with autosomal recessive polydactyly. 31115189 2019
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.330 GeneticVariation disease BEFREE To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. 28488682 2017
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.330 Biomarker disease GENOMICS_ENGLAND Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 23022097 2012
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.330 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