PITX3, paired like homeodomain 3, 5309

N. diseases: 93; N. variants: 8
Disease: ANTERIOR SEGMENT DYSGENESIS 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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