Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.750 Biomarker GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230

1995
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.750 Biomarker GENOMICS_ENGLAND Photoreactivation of superoxide dismutase by intensive red (laser) light. 2855731

1988
Entrez Id: 22884
Gene Symbol: WDR37
WDR37
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.400 Biomarker GENOMICS_ENGLAND De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 31327508

2019
Entrez Id: 5914
Gene Symbol: RARA
RARA
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.310 Biomarker GENOMICS_ENGLAND We describe a girl with a de novo mutation NM_000964 c.826C > T (p.Arg276Trp) in RARA with symptoms overlapping those described in RARB patients (coloboma, muscular hypotonia, dilated pulmonary artery, ectopic kidney). 31343737

2019