Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
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
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.700 Biomarker disease GENOMICS_ENGLAND Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. 20033184 2010
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.700 CausalMutation disease CLINVAR Functional analysis of human mutations in homeodomain transcription factor PITX3. 17888164 2007
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.700 Biomarker disease CTD_human Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 15286169 2004
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.700 GeneticVariation disease UNIPROT Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 15286169 2004
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.700 Biomarker disease GENOMICS_ENGLAND Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 15286169 2004
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.700 GeneticVariation disease UNIPROT A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 9620774 1998
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
0.700 Biomarker disease GENOMICS_ENGLAND