DisGeNET - a database of gene-disease associations

ADH1B, alcohol dehydrogenase 1B (class I), beta polypeptide, 125

N. diseases: 224; N. variants: 30

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:

rs283413

Entrez Id:	125;126
Gene Symbol:	ADH1B;ADH1C

ADH1B;ADH1C

CUI:	C1838867
Disease:

PARKINSON DISEASE, MITOCHONDRIAL (disorder)

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0005845
Disease:

Blood urea nitrogen measurement

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0001973
Disease:

Alcoholic Intoxication, Chronic

0.900

GeneticVariation

BEFREE

A coding variant in alcohol dehydrogenase 1B (ADH1B) (rs1229984) that leads to the replacement of Arg48 with His48 is common in Asian populations and reduces their risk for alcoholism, but because of very low allele frequencies the effects in European or African populations have been difficult to detect.

21968928

2012

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0279626
Disease:

Squamous cell carcinoma of esophagus

0.080

GeneticVariation

BEFREE

A dataset composed of 4,220 cases and 8,946 controls from twelve studies of Asian populations was analyzed for ADH1B Arg47His association with ESCC and its interactions with alcohol drinking and ALDH2 Glu504Lys.

21048924

2010

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.050

GeneticVariation

BEFREE

A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan.

16332725

2006

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C4722085
Disease:

Malignant neoplasm of colon and/or rectum

0.020

GeneticVariation

BEFREE

A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan.

16332725

2006

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C2931822
Disease:

Nasopharyngeal carcinoma

0.700

GeneticVariation

GWASDB

A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

20512145

2010

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0018671
Disease:

Head and Neck Neoplasms

0.800

GeneticVariation

GWASCAT

A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.

21437268

2011

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0018671
Disease:

Head and Neck Neoplasms

0.800

GeneticVariation

GWASDB

A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.

21437268

2011

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0699791
Disease:

Stomach Carcinoma

0.020

GeneticVariation

BEFREE

A known functional SNP in ADH1B (rs1229984) was associated with alcohol intake (P-value = 0.04) but not GC risk.

22144473

2012

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0024623
Disease:

Malignant neoplasm of stomach

0.020

GeneticVariation

BEFREE

A known functional SNP in ADH1B (rs1229984) was associated with alcohol intake (P-value = 0.04) but not GC risk.

22144473

2012

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0001948
Disease:

Alcohol consumption

0.800

GeneticVariation

GWASCAT

A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.

23743675

2013

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0001948
Disease:

Alcohol consumption

0.800

GeneticVariation

GWASDB

A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.

23743675

2013

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0001956
Disease:

Alcohol Use Disorder

0.060

GeneticVariation

BEFREE

A significant rs1229984 by childhood adversity interaction was observed for AUD symptoms in EA men.

25410943

2014

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C1510472
Disease:

Drug Dependence

0.010

GeneticVariation

BEFREE

A variant of the ADH1B gene (rs1229984 or Arg48His; previously referred to as Arg [*1] and His [*1]) has been reported to be associated with reduced rates of alcohol and drug dependence.

21497796

2011

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0014859
Disease:

Esophageal Neoplasms

0.840

GeneticVariation

BEFREE

ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-incidence Asian population: evidence from a meta-analysis.

21048924

2010

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0546837
Disease:

Malignant neoplasm of esophagus

0.750

GeneticVariation

BEFREE

ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-incidence Asian population: evidence from a meta-analysis.

21048924

2010

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0152018
Disease:

Esophageal carcinoma

0.040

GeneticVariation

BEFREE

ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-incidence Asian population: evidence from a meta-analysis.

21048924

2010

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0546837
Disease:

Malignant neoplasm of esophagus

0.750

GeneticVariation

BEFREE

ADH1B rs1229984 polymorphism HRs for HNC and oesophageal cancer death and for alcohol related cancer death were 0.67 (95% CI: 0.42-1.08), and 0.64 (95% CI: 0.40-1.03), respectively.

25770642

2015

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0006826
Disease:

Malignant Neoplasms

0.050

GeneticVariation

BEFREE

ADH1B rs1229984 polymorphism HRs for HNC and oesophageal cancer death and for alcohol related cancer death were 0.67 (95% CI: 0.42-1.08), and 0.64 (95% CI: 0.40-1.03), respectively.

25770642

2015

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.050

GeneticVariation

BEFREE

ADH1B rs1229984 polymorphism HRs for HNC and oesophageal cancer death and for alcohol related cancer death were 0.67 (95% CI: 0.42-1.08), and 0.64 (95% CI: 0.40-1.03), respectively.

25770642

2015

dbSNP:

rs3811802

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0699790
Disease:

Colon Carcinoma

0.010

GeneticVariation

BEFREE

ADH1B rs3811802 and ADH1C rs4147542 significantly modified the alcohol-colon cancer association in women.

29390059

2018

dbSNP:

rs3811802

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C0007102
Disease:

Malignant tumor of colon

0.010

GeneticVariation

BEFREE

ADH1B rs3811802 and ADH1C rs4147542 significantly modified the alcohol-colon cancer association in women.

29390059

2018

dbSNP:

rs1229984

Entrez Id:	125
Gene Symbol:	ADH1B

ADH1B

CUI:	C1168401
Disease:

Squamous cell carcinoma of the head and neck

0.030

GeneticVariation

BEFREE

ADH1B histidine allele (rs1229984), CYP2E1 rs3813867 heterozygous genotype, and GSTT1 deletion conferred protection against HNSCC (OR: 0.318 [0.04-0.75], OR: 0.13 [0.02-0.94], and OR: 0.12 [0.02-0.60], respectively) while GSTP1 (rs1695) Val/Val genotype was related to an increased risk (OR: 4.12 [1.11-15.31]).

25639971

2015

dbSNP:

rs4147542

Entrez Id:	125;126
Gene Symbol:	ADH1B;ADH1C

ADH1B;ADH1C

CUI:	C0007102
Disease:

Malignant tumor of colon

0.010

GeneticVariation

BEFREE

ADH1B rs3811802 and ADH1C rs4147542 significantly modified the alcohol-colon cancer association in women.

29390059

2018