DisGeNET - a database of gene-disease associations

CYP1B1, cytochrome P450 family 1 subfamily B member 1, 1545

N. diseases: 304; N. variants: 73

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs72549387

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

CausalMutation

CLINVAR

Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.

22004014

2012

dbSNP:

rs148542782

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

CausalMutation

CLINVAR

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.

21854771

2011

dbSNP:

rs148542782

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

CausalMutation

CLINVAR

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

21081970

2011

dbSNP:

rs72549387

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

CausalMutation

CLINVAR

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

19643970

2010

dbSNP:

rs104893622

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

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

dbSNP:

rs104893628

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

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

dbSNP:

rs104893629

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

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

dbSNP:

rs148542782

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

CausalMutation

CLINVAR

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

18537981

2008

dbSNP:

rs28936700

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

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

dbSNP:

rs28936701

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

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

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

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

dbSNP:

rs72549387

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

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

dbSNP:

rs104893622

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

16688110

2006

dbSNP:

rs104893622

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

16490498

2006

dbSNP:

rs104893622

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

16862072

2006

dbSNP:

rs104893622

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

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

dbSNP:

rs104893628

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

16862072

2006

dbSNP:

rs104893628

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

16490498

2006

dbSNP:

rs104893628

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

16688110

2006

dbSNP:

rs104893628

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

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

dbSNP:

rs104893629

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

16490498

2006

dbSNP:

rs104893629

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

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

dbSNP:

rs104893629

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

16688110

2006

dbSNP:

rs104893629

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

16862072

2006

dbSNP:

rs28936700

Entrez Id:	1545;285154
Gene Symbol:	CYP1B1;CYP1B1-AS1

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.800

GeneticVariation

UNIPROT

Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

16490498

2006