| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | Biomarker | disease | BEFREE | Anterior segment dysgenesis (ASD) and Axenfeld-Rieger spectrum (ARS) are mainly due to PITX2 and FOXC1 defects, but it is difficult in some patients to differentiate among PITX2-, FOXC1-, PAX6- and CYP1B1-related disorders. | 30457409 | 2018 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations in FOXC1 and PITX2 constitute the most common causes of ocular anterior segment dysgenesis (ASD), and confer a high risk for secondary glaucoma. | 28911203 | 2017 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations in the homeobox transcription factor paired-like homeodomain transcription factor 2 (PITX2) cause Axenfeld-Reiger syndrome (ARS), which is associated with anterior segment dysgenesis (ASD) and glaucoma. | 22919265 | 2012 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Histological and marker analyses of the misshapen eyes of the pitx2(ex4/5) morphants identified anterior segment dysgenesis and disordered hyaloid vasculature. | 22303467 | 2012 | ||||
|
0.080 | Biomarker | disease | BEFREE | Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. | 16449236 | 2006 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Sixty-four patients with AR, iridogoniodysgenesis (IGD), iris hypoplasia (IH), or anterior segment dysgenesis (ASD) were screened for PITX2 mutations by sequencing. | 14985297 | 2004 | ||||
|
0.080 | Biomarker | disease | BEFREE | The specific role of PITX2 in the pathogenesis of anterior segment dysgenesis has yet to be clearly defined. | 11487566 | 2001 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The purposes of this study were to determine the range of expression and intrafamilial variability of PITX2 mutations in patients with anterior segment dysgenesis. | 10937553 | 2000 |