PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
Disease: Anterior segment mesenchymal dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE Heterozygous missense mutations in PITX3 have been reported in patients with autosomal dominant congenital cataract and anterior segment (ocular) mesenchymal dysgenesis (ASMD) whereas homozygous missense mutations have been found in patients with microphthalmia and neurological impairment. 22223473 2012
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. 18989383 2008
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 Biomarker disease CTD_human Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. 18989383 2008
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE The PITX3 gene, which codes for a homeobox bicoidlike transcription factor is responsible for dominant cataract and anterior segment mesenchymal dysgenesis in humans. 16565358 2006
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE Mutations in the PITX3 gene in humans result in posterior polar cataract and variable ASMD. 15665340 2005
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 GeneticVariation disease BEFREE A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 9620774 1998
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 Biomarker disease CTD_human A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 9620774 1998
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.750 Biomarker disease MGD