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: 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
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 CausalMutation disease CLINVAR Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. 24555714 2014
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. 20033184 2010
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 CausalMutation disease CLINVAR Functional analysis of human mutations in homeodomain transcription factor PITX3. 17888164 2007
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 Biomarker disease CTD_human Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 15286169 2004
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 GeneticVariation disease UNIPROT Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 15286169 2004
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 15286169 2004
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 GeneticVariation disease UNIPROT A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 9620774 1998
CUI: C1864567
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder)
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.600 CausalMutation disease CLINVAR Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. 24555714 2014
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.600 Biomarker disease GENOMICS_ENGLAND Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. 20033184 2010
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.600 CausalMutation disease CLINVAR Functional analysis of human mutations in homeodomain transcription factor PITX3. 17888164 2007
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.600 Biomarker disease GENOMICS_ENGLAND Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 15286169 2004
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.600 Biomarker disease MGD
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE The prevalence of PITX3 gene‑associated cataract was 1.54% (3/195) in the Chinese congenital cataract (CC) family cohort. 30816539 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. 29314435 2018