DisGeNET - a database of gene-disease associations

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

N. diseases: 304; N. variants: 73

Disease: Glaucoma of childhood ×

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:

rs587778873

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

TGGTGGCATGA

0.700

CausalMutation

CLINVAR

Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.

28448622

2017

dbSNP:

rs72549380

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.

28448622

2017

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

27820421

2016

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

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

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

27272408

2016

dbSNP:

rs587778873

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

TGGTGGCATGA

0.700

CausalMutation

CLINVAR

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

27272408

2016

dbSNP:

rs72549387

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

27820421

2016

dbSNP:

rs771076928

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

27777502

2016

dbSNP:

rs771076928

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

27820421

2016

dbSNP:

rs771076928

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

27272408

2016

dbSNP:

rs587778875

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.

25950505

2015

dbSNP:

rs587778875

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

25091052

2015

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

[Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report].

25109919

2014

dbSNP:

rs587778873

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

TGGTGGCATGA

0.700

CausalMutation

CLINVAR

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

24281366

2014

dbSNP:

rs72549387

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

24281366

2014

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

23218183

2013

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

23218701

2013

dbSNP:

rs587778873

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

TGGTGGCATGA

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

dbSNP:

rs72549387

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

23218701

2013

dbSNP:

rs72549387

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

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

dbSNP:

rs771076928

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

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

dbSNP:

rs72549387

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

CYP1B1;CYP1B1-AS1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

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

22004014

2012

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.

21600657

2011

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

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

21081970

2011

dbSNP:

rs55989760

Entrez Id:	1545
Gene Symbol:	CYP1B1

CYP1B1

CUI:	C2981140
Disease:

Glaucoma of childhood

0.700

CausalMutation

CLINVAR

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

21854771

2011