PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
Disease: CATARACT, POSTERIOR POLAR, 4 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1411557416
rs1411557416
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
CUI: C1864567
Disease:
CATARACT, POSTERIOR POLAR, 4 (disorder) 		GCCCAGGCCCTGCAGGGC 0.700 CausalMutation 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
dbSNP: rs1411557416
rs1411557416
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
CUI: C1864567
Disease:
CATARACT, POSTERIOR POLAR, 4 (disorder) 		GCCCAGGCCCTGCAGGGC 0.700 CausalMutation CLINVAR Functional analysis of human mutations in homeodomain transcription factor PITX3. 17888164 2007
dbSNP: rs104894175
rs104894175
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
CUI: C1864567
Disease:
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 GeneticVariation UNIPROT Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 15286169 2004
dbSNP: rs104894175
rs104894175
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
CUI: C1864567
Disease:
CATARACT, POSTERIOR POLAR, 4 (disorder) 		0.700 GeneticVariation UNIPROT A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 9620774 1998