DisGeNET - a database of gene-disease associations

CYP2E1, cytochrome P450 family 2 subfamily E member 1, 1571

N. diseases: 306; N. variants: 40

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:

rs10857746

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs10857748

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs10857749

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs10857753

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs10857753

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs11101824

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs11527824

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs11593189

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2070676

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs3813872

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs3813873

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs4512750

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs743534

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs743535

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs8181432

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs8181436

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs8181437

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2070676

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASCAT

Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

22179738

2012

dbSNP:

rs2070676

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASCAT

Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

22179738

2012

dbSNP:

rs2070677

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0003868
Disease:

Arthritis, Gouty

0.700

GeneticVariation

GWASCAT

Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

22179738

2012

dbSNP:

rs2070677

Entrez Id:	1571
Gene Symbol:	CYP2E1

CYP2E1

CUI:	C0018099
Disease:

Gout

0.700

GeneticVariation

GWASCAT

Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

22179738

2012

dbSNP:

rs774225566

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C4310779
Disease:

SPERMATOGENIC FAILURE 15

0.700

CausalMutation

CLINVAR

dbSNP:

rs875989885

Entrez Id:	1571;93426
Gene Symbol:	CYP2E1;SYCE1

CYP2E1;SYCE1

CUI:	C4310782
Disease:

PREMATURE OVARIAN FAILURE 12

0.700

CausalMutation

CLINVAR

dbSNP:

rs2031920

Entrez Id:	1571;107984284
Gene Symbol:	CYP2E1;LOC107984284

CYP2E1;LOC107984284

CUI:	C0684249
Disease:

Carcinoma of lung

0.030

GeneticVariation

BEFREE

Our findings indicate that CYP2E1 rs2031920 and COMT rs4680 are not major contributors to lung cancer risk in our Japanese population.

27644662

2016

dbSNP:

rs2031920

Entrez Id:	1571;107984284
Gene Symbol:	CYP2E1;LOC107984284

CYP2E1;LOC107984284

CUI:	C1306460
Disease:

Primary malignant neoplasm of lung

0.030

GeneticVariation

BEFREE

Our findings indicate that CYP2E1 rs2031920 and COMT rs4680 are not major contributors to lung cancer risk in our Japanese population.

27644662

2016