rs749073455
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
rs893198212
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
rs587778875
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
CG
0.700
CausalMutation
CLINVAR
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.
9097971
1997
rs72549380
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.
9097971
1997
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
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
rs587778873
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
TGGTGGCATGA
0.700
CausalMutation
CLINVAR
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
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
10227395
1999
rs72549387
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.
11403040
2001
rs72549387
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Molecular genetics of primary congenital glaucoma in Brazil.
12036985
2002
rs771076928
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
G
0.700
CausalMutation
CLINVAR
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.
12372064
2002
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
15342693
2004
rs587778873
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
TGGTGGCATGA
0.700
CausalMutation
CLINVAR
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
17591938
2007
rs587778875
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
CG
0.700
CausalMutation
CLINVAR
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
17591938
2007
rs766425037
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
C
0.700
CausalMutation
CLINVAR
Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.
17164573
2007
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
18537981
2008
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.
18414103
2008
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Metabolism of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) by human CYP1B1 genetic variants.
18227148
2008
rs587778873
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
TGGTGGCATGA
0.700
CausalMutation
CLINVAR
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
19234632
2009
rs766425037
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
C
0.700
CausalMutation
CLINVAR
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma.
19247456
2009
rs771076928
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
G
0.700
CausalMutation
CLINVAR
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
19234632
2009
rs1221648356
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
0.010
GeneticVariation
BEFREE
The presence of a P370L mutation of MYOC in all six glaucoma patients suggests a casual association between this mutation and juvenile glaucoma with goniodysgenesis.
19668597
2009
rs745378110
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
0.010
GeneticVariation
BEFREE
The presence of a P370L mutation of MYOC in all six glaucoma patients suggests a casual association between this mutation and juvenile glaucoma with goniodysgenesis.
19668597
2009
rs72549387
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
19643970
2010
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.
21600657
2011
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
21081970
2011