DisGeNET - a database of gene-disease associations

HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42

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:

rs34474104

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A].

24502349

2014

dbSNP:

rs34878913

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A].

24502349

2014

dbSNP:

rs35103459

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A].

24502349

2014

dbSNP:

rs372091

Entrez Id:	3046;3048;282763
Gene Symbol:	HBE1;HBG2;OR51B5

HBE1;HBG2;OR51B5

CUI:	C0024530
Disease:

Malaria

0.800

GeneticVariation

GWASDB

Genome-wide association study indicates two novel resistance loci for severe malaria.

22895189

2012

dbSNP:

rs372091

Entrez Id:	3046;3048;282763
Gene Symbol:	HBE1;HBG2;OR51B5

HBE1;HBG2;OR51B5

CUI:	C0024530
Disease:

Malaria

0.800

GeneticVariation

GWASCAT

Genome-wide association study indicates two novel resistance loci for severe malaria.

22895189

2012

dbSNP:

rs5006884

Entrez Id:	3046;3048;282763;390058
Gene Symbol:	HBE1;HBG2;OR51B5;OR51B6

HBE1;HBG2;OR51B5;OR51B6

CUI:	C0200695
Disease:

Fetal hemoglobin determination

0.800

GeneticVariation

GWASDB

Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.

22936743

2012

dbSNP:

rs34474104

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

A hemoglobin variant associated with neonatal cyanosis and anemia.

21561349

2011

dbSNP:

rs34878913

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

A hemoglobin variant associated with neonatal cyanosis and anemia.

21561349

2011

dbSNP:

rs35103459

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

A hemoglobin variant associated with neonatal cyanosis and anemia.

21561349

2011

dbSNP:

rs4910742

Entrez Id:	3046;3048
Gene Symbol:	HBE1;HBG2

HBE1;HBG2

CUI:	C0200695
Disease:

Fetal hemoglobin determination

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

21326311

2011

dbSNP:

rs5006884

Entrez Id:	3046;3048;282763;390058
Gene Symbol:	HBE1;HBG2;OR51B5;OR51B6

HBE1;HBG2;OR51B5;OR51B6

CUI:	C0200695
Disease:

Fetal hemoglobin determination

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

21326311

2011

dbSNP:

rs5006884

Entrez Id:	3046;3048;282763;390058
Gene Symbol:	HBE1;HBG2;OR51B5;OR51B6

HBE1;HBG2;OR51B5;OR51B6

CUI:	C0200695
Disease:

Fetal hemoglobin determination

0.800

GeneticVariation

GWASDB

Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.

20018918

2010

dbSNP:

rs5006884

Entrez Id:	3046;3048;282763;390058
Gene Symbol:	HBE1;HBG2;OR51B5;OR51B6

HBE1;HBG2;OR51B5;OR51B6

CUI:	C0200695
Disease:

Fetal hemoglobin determination

0.800

GeneticVariation

GWASCAT

Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.

20018918

2010

dbSNP:

rs34474104

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].

19065339

2008

dbSNP:

rs34878913

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].

19065339

2008

dbSNP:

rs35103459

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].

19065339

2008

dbSNP:

rs4910742

Entrez Id:	3046;3048
Gene Symbol:	HBE1;HBG2

HBE1;HBG2

CUI:	C0200695
Disease:

Fetal hemoglobin determination

0.800

GeneticVariation

GWASDB

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

18245381

2008

dbSNP:

rs4910742

Entrez Id:	3046;3048
Gene Symbol:	HBE1;HBG2

HBE1;HBG2

CUI:	C0200695
Disease:

Fetal hemoglobin determination

0.800

GeneticVariation

GWASCAT

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

18245381

2008

dbSNP:

rs34474104

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis.

7741137

1995

dbSNP:

rs34878913

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis.

7741137

1995

dbSNP:

rs35103459

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis.

7741137

1995

dbSNP:

rs34474104

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant.

2483933

1989

dbSNP:

rs34474104

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Mutant fetal hemoglobin causing cyanosis in a newborn.

2470017

1989

dbSNP:

rs34878913

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Mutant fetal hemoglobin causing cyanosis in a newborn.

2470017

1989

dbSNP:

rs34878913

Entrez Id:	3048
Gene Symbol:	HBG2

HBG2

CUI:	C3151421
Disease:

CYANOSIS, TRANSIENT NEONATAL

0.800

GeneticVariation

UNIPROT

Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant.

2483933

1989