rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
18470941
2008
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Primary role of CYP1B1 in Indian juvenile-onset POAG patients.
16688110
2006
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
16862072
2006
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.
16490498
2006
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.
16735994
2006
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.
15255109
2004
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
15342693
2004
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.
15475877
2004
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.
14635112
2003
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Gene symbol: CYP1B1. Disease: glaucoma, primary congenital.
14640114
2003
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
12525557
2003
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Molecular genetics of primary congenital glaucoma in Brazil.
12036985
2002
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.
11980847
2002
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
11774072
2002
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.
11527932
2001
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
10655546
2000
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.
11184479
2000
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
10227395
1999
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
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
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
0.800
GeneticVariation
UNIPROT
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
9463332
1998
rs28936701
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
GLAUCOMA 3, PRIMARY CONGENITAL, A
A
0.800
CausalMutation
CLINVAR