PITX2, paired like homeodomain 2, 5308

N. diseases: 248; N. variants: 27
Disease: Hydrophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.140 GeneticVariation disease BEFREE In addition, we found an elevated frequency (8%) of heterozygous and rare PITX2 variants in the group of CG cases who were known to carry CYP1B1 glaucoma-associated genotypes, and one of these PITX2 variants arose de novo. 30657791 2019
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.140 Biomarker disease BEFREE Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. 28911203 2017
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.140 GeneticVariation disease BEFREE There is significant phenotypic variability in patients with PITX2 mutations, both within and between families.Developmental glaucoma is common. 10937553 2000
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.140 Biomarker disease BEFREE Important advances have been made within the past year in the area of glaucoma genetics, including the identification of the TIGR gene for adult as well as juvenile GLC1A glaucoma, a P450 gene for GLC3A congenital glaucoma, and a bicoidhomeobox transcription factor gene RIEG for developmental glaucoma. 10180507 1998
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.140 Biomarker disease HPO