|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
|
18470941 |
2008 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.
|
16490498 |
2006 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Primary role of CYP1B1 in Indian juvenile-onset POAG patients.
|
16688110 |
2006 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
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 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
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 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
|
11774072 |
2002 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Gene symbol: CYP1B1. Disease: glaucoma, primary congenital.
|
14640114 |
2003 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
|
12525557 |
2003 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
|
16862072 |
2006 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.
|
11527932 |
2001 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.
|
11184479 |
2000 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.
|
11980847 |
2002 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
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 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
|
15342693 |
2004 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.
|
16735994 |
2006 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
|
10227395 |
1999 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
|
21850185 |
2011 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.
|
14635112 |
2003 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.
|
15255109 |
2004 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
|
9463332 |
1998 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular genetics of primary congenital glaucoma in Brazil.
|
12036985 |
2002 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.
|
15475877 |
2004 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
|
GLAUCOMA 3, PRIMARY CONGENITAL, A
|
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 |