DisGeNET - a database of gene-disease associations

SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34

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:

rs229614

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0600139
Disease:

Prostate carcinoma

0.010

GeneticVariation

BEFREE

Individuals carrying the XPG rs229614 TT (OR=2.01, 95%CI=1.35-3.27) genotype and T allele (OR=1.73, 95%CI=1.37-2.57) were moderately significantly associated with a higher risk of prostate cancer.

24289586

2013

dbSNP:

rs229614

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0376358
Disease:

Malignant neoplasm of prostate

0.010

GeneticVariation

BEFREE

Individuals carrying the XPG rs229614 TT (OR=2.01, 95%CI=1.35-3.27) genotype and T allele (OR=1.73, 95%CI=1.37-2.57) were moderately significantly associated with a higher risk of prostate cancer.

24289586

2013

dbSNP:

rs1271040

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1271040

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs147598882

Entrez Id:	6710;105370534
Gene Symbol:	SPTB;LOC105370534

SPTB;LOC105370534

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs11851199

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

28957414

2017

dbSNP:

rs11851199

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

28957414

2017

dbSNP:

rs17767662

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

28957414

2017

dbSNP:

rs17767662

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

28957414

2017

dbSNP:

rs11851199

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs11851199

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs1741464

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0206161
Disease:

Reticulocyte count (procedure)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs2285002

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs2285002

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs3215645

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs11158559

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C0162701
Disease:

Polysomnography

0.700

GeneticVariation

GWASDB

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

23251661

2012

dbSNP:

rs11158559

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1295176
Disease:

Leptin measurement

0.700

GeneticVariation

GWASCAT

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

23251661

2012

dbSNP:

rs200386310

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C2674219
Disease:

SPHEROCYTOSIS, HEREDITARY, 2

0.700

GeneticVariation

CLINVAR

beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism.

11703334

2001

dbSNP:

rs1555370967

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C2674219
Disease:

SPHEROCYTOSIS, HEREDITARY, 2

0.700

CausalMutation

CLINVAR

Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene.

9714702

1998

dbSNP:

rs121918648

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C2674219
Disease:

SPHEROCYTOSIS, HEREDITARY, 2

0.700

GeneticVariation

CLINVAR

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.

8844207

1996

dbSNP:

rs121918648

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C2674219
Disease:

SPHEROCYTOSIS, HEREDITARY, 2

0.700

GeneticVariation

CLINVAR

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

7883966

1995

dbSNP:

rs121918648

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1866810
Disease:

ELLIPTOCYTOSIS 3

0.700

GeneticVariation

UNIPROT

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

7883966

1995

dbSNP:

rs121918649

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1866810
Disease:

ELLIPTOCYTOSIS 3

0.700

GeneticVariation

UNIPROT

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

7883966

1995

dbSNP:

rs367841692

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1866810
Disease:

ELLIPTOCYTOSIS 3

0.700

GeneticVariation

UNIPROT

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.

7883966

1995

dbSNP:

rs121918648

Entrez Id:	6710
Gene Symbol:	SPTB

SPTB

CUI:	C1866810
Disease:

ELLIPTOCYTOSIS 3

0.700

GeneticVariation

UNIPROT

Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.

8018926

1994