|
rs72549387
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
|
27820421 |
2016 |
|
rs771076928
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
|
27272408 |
2016 |
|
rs771076928
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
|
27820421 |
2016 |
|
rs771076928
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
|
27777502 |
2016 |
|
rs587778875
|
|
CG |
0.700 |
CausalMutation |
CLINVAR |
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
|
25950505 |
2015 |
|
rs587778875
|
|
CG |
0.700 |
CausalMutation |
CLINVAR |
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
|
25091052 |
2015 |
|
rs72549387
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
|
24281366 |
2014 |
|
rs72549387
|
|
T |
0.700 |
CausalMutation |
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 |
|
rs72549387
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
|
23218701 |
2013 |
|
rs771076928
|
|
G |
0.700 |
CausalMutation |
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 |
|
rs72549387
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.
|
22004014 |
2012 |
|
rs72549387
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
|
19643970 |
2010 |
|
rs766425037
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma.
|
19247456 |
2009 |
|
rs771076928
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
|
19234632 |
2009 |
|
rs587778875
|
|
CG |
0.700 |
CausalMutation |
CLINVAR |
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
|
17591938 |
2007 |
|
rs766425037
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.
|
17164573 |
2007 |
|
rs72549387
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetics of primary congenital glaucoma in Brazil.
|
12036985 |
2002 |
|
rs771076928
|
|
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 |
|
rs72549387
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.
|
11403040 |
2001 |
|
rs587778875
|
|
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 |