DisGeNET - a database of gene-disease associations

ARHGEF38, Rho guanine nucleotide exchange factor 38, 54848

N. diseases: 10; N. variants: 15

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:

rs17036090

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C0410702
Disease:

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs17036090

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C1837461
Disease:

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs28402213

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASCAT

Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins.

30498476

2018

dbSNP:

rs112037309

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C0005910
Disease:

Body Weight

0.700

GeneticVariation

GWASCAT

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

28548082

2017

dbSNP:

rs17035917

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C0024117
Disease:

Chronic Obstructive Airway Disease

0.700

GeneticVariation

GWASCAT

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.

28166215

2017

dbSNP:

rs1982346

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C0016529
Disease:

Forced expiratory volume function

0.700

GeneticVariation

GWASCAT

Gene network analysis in a pediatric cohort identifies novel lung function genes.

24023788

2013

dbSNP:

rs11725523

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C0231921
Disease:

Pulmonary function

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11725523

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C3160731
Disease:

Pulmonary function (finding)

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11726569

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C0231921
Disease:

Pulmonary function

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11726569

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C3160731
Disease:

Pulmonary function (finding)

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11727189

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C3160731
Disease:

Pulmonary function (finding)

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11727189

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C0035227
Disease:

Respiratory Function Tests

0.700

GeneticVariation

GWASCAT

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11727189

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C0016529
Disease:

Forced expiratory volume function

0.700

GeneticVariation

GWASCAT

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11727189

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C0231921
Disease:

Pulmonary function

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11728044

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C0231921
Disease:

Pulmonary function

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11728044

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C3160731
Disease:

Pulmonary function (finding)

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11735213

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C3160731
Disease:

Pulmonary function (finding)

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs11735213

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C0231921
Disease:

Pulmonary function

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs12374256

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C3160731
Disease:

Pulmonary function (finding)

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs12374256

Entrez Id:	54848;57117
Gene Symbol:	ARHGEF38;INTS12

ARHGEF38;INTS12

CUI:	C0231921
Disease:

Pulmonary function

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs1374531

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C0231921
Disease:

Pulmonary function

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs1374531

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C3160731
Disease:

Pulmonary function (finding)

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs17035917

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C3160731
Disease:

Pulmonary function (finding)

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs17035917

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C0231921
Disease:

Pulmonary function

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010

dbSNP:

rs17035960

Entrez Id:	54848
Gene Symbol:	ARHGEF38

ARHGEF38

CUI:	C0231921
Disease:

Pulmonary function

0.700

GeneticVariation

GWASDB

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

20010835

2010