×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.
28448622
2017
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
27777502
2016
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
27272408
2016
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
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
0.450
CausalMutation
disease
CLINVAR
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
27820421
2016
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
25950505
2015
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
25091052
2015
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
[Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report].
25109919
2014
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
24281366
2014
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
23922489
2013
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.
23218183
2013
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
23218701
2013
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
GeneticVariation
disease
BEFREE
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma .
23218183
2013
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
SusceptibilityMutation
disease
ORPHANET
Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma.
22878448
2012
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
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
0.450
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
0.450
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
0.450
CausalMutation
disease
CLINVAR
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.
21600657
2011
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
GeneticVariation
disease
BEFREE
The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.
21596299
2011
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
GeneticVariation
disease
BEFREE
Classification of the developmental corneal opacity phenotype in infantile glaucoma patients with CYP1B1 mutations.
21600657
2011
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
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
0.450
SusceptibilityMutation
disease
ORPHANET
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
19643970
2010
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma.
19247456
2009
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
Biomarker
disease
BEFREE
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
19668597
2009
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
0.450
CausalMutation
disease
CLINVAR
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
19234632
2009