Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 Biomarker disease GENOMICS_ENGLAND Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 17148041 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 GeneticVariation disease UNIPROT Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 GeneticVariation disease UNIPROT Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. 10441571 1999
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 Biomarker disease GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230 1995
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 GeneticVariation disease UNIPROT Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. 8162071 1994
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 Biomarker disease GENOMICS_ENGLAND Photoreactivation of superoxide dismutase by intensive red (laser) light. 2855731 1988
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		0.400 Biomarker disease GENOMICS_ENGLAND Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. 19793056 2009
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1 		0.400 Biomarker disease GENOMICS_ENGLAND A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 12372064 2002
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1 		0.400 Biomarker disease GENOMICS_ENGLAND Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. 9497261 1998
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.300 Biomarker disease GENOMICS_ENGLAND Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. 11487566 2001
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		0.300 Biomarker disease GENOMICS_ENGLAND