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:

rs957253424

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

dbSNP:

rs9341266

Entrez Id:	1545;151393;107985872
Gene Symbol:	CYP1B1;RMDN2;LOC107985872

CYP1B1;RMDN2;LOC107985872

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.010

GeneticVariation

BEFREE

Among the individual single nucleotide polymorphisms, one (rs9341266) was associated with increased risk of breast cancer (P(trend) = 0.021), although the association was no longer significant after adjusting for multiple tests.

19293312

2009

dbSNP:

rs9341266

Entrez Id:	1545;151393;107985872
Gene Symbol:	CYP1B1;RMDN2;LOC107985872

CYP1B1;RMDN2;LOC107985872

CUI:	C0678222
Disease:

Breast Carcinoma

0.010

GeneticVariation

BEFREE

19293312

2009

dbSNP:

rs9282671

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

CYP1B1;CYP1B1-AS1

CUI:	C1865427
Disease:

GLAUCOMA 1, OPEN ANGLE, D (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs9282671

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

CYP1B1;CYP1B1-AS1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

dbSNP:

rs9282671

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

CYP1B1;CYP1B1-AS1

CUI:	C1533041
Disease:

Primary congenital glaucoma

0.010

GeneticVariation

BEFREE

Two variants which had not been previously related to PCG in Brazil (c.182G>A, c.241T>A) were identified.

30520782

2019

dbSNP:

rs9282671

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

CYP1B1;CYP1B1-AS1

CUI:	C0339573
Disease:

Glaucoma, Primary Open Angle

0.010

GeneticVariation

BEFREE

We also detected an individual heterozygous for p.(Tyr81Asn) mutation, previously suggested to cause autosomal dominant primary open-angle glaucoma.

27820421

2016

dbSNP:

rs893198212

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

11774072

2002

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

10227395

1999

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

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

16688110

2006

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.

15475877

2004

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

15255109

2004

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

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

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.

14635112

2003

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

18470941

2008

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Gene symbol: CYP1B1. Disease: glaucoma, primary congenital.

14640114

2003

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Molecular genetics of primary congenital glaucoma in Brazil.

12036985

2002

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

12525557

2003

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

15342693

2004

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

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

16862072

2006

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

9463332

1998

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.

11980847

2002

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.

11184479

2000

dbSNP:

rs868208502

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C1856439
Disease:

GLAUCOMA 3, PRIMARY CONGENITAL, A

0.700

GeneticVariation

UNIPROT

Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.

16735994

2006