×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
CLINVAR
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.
27243976
2016
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
CausalMutation
disease
CLINVAR
Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.
22004014
2012
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
CausalMutation
disease
CLINVAR
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
21081970
2011
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
CLINVAR
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
21850185
2011
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
CausalMutation
disease
CLINVAR
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
21854771
2011
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
CausalMutation
disease
CLINVAR
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
19643970
2010
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
18470941
2008
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
CausalMutation
disease
CLINVAR
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
18537981
2008
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.
16490498
2006
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Primary role of CYP1B1 in Indian juvenile-onset POAG patients.
16688110
2006
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
16862072
2006
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.
16735994
2006
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
CausalMutation
disease
CLINVAR
Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.
15037581
2004
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
15342693
2004
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.
15255109
2004
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
CausalMutation
disease
CLINVAR
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.
15255109
2004
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.
15475877
2004
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Gene symbol: CYP1B1. Disease: glaucoma, primary congenital.
14640114
2003
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
12525557
2003
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.
14635112
2003
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
11774072
2002
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
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
0.700
GeneticVariation
disease
UNIPROT
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.
11980847
2002
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Molecular genetics of primary congenital glaucoma in Brazil.
12036985
2002
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.700
GeneticVariation
disease
UNIPROT
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.
11527932
2001