DisGeNET - a database of gene-disease associations

CARD9, caspase recruitment domain family member 9, 64170

N. diseases: 103; N. variants: 20

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:

rs10781499

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0009324
Disease:

Ulcerative Colitis

0.800

GeneticVariation

GWASCAT

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

28067908

2017

dbSNP:

rs10781499

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.800

GeneticVariation

GWASCAT

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

28067908

2017

dbSNP:

rs10781499

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0009324
Disease:

Ulcerative Colitis

0.800

GeneticVariation

GWASCAT

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

26192919

2015

dbSNP:

rs149712114

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

GeneticVariation

UNIPROT

Deep dermatophytosis and inherited CARD9 deficiency.

24131138

2013

dbSNP:

rs149712114

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

GeneticVariation

UNIPROT

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

23335372

2013

dbSNP:

rs398122362

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

GeneticVariation

UNIPROT

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

23335372

2013

dbSNP:

rs398122362

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

GeneticVariation

UNIPROT

Deep dermatophytosis and inherited CARD9 deficiency.

24131138

2013

dbSNP:

rs398122364

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

GeneticVariation

UNIPROT

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

23335372

2013

dbSNP:

rs398122364

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

GeneticVariation

UNIPROT

Deep dermatophytosis and inherited CARD9 deficiency.

24131138

2013

dbSNP:

rs10781499

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.800

GeneticVariation

GWASDB

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

23128233

2012

dbSNP:

rs10781499

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0021390
Disease:

Inflammatory Bowel Diseases

0.800

GeneticVariation

GWASCAT

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

23128233

2012

dbSNP:

rs10781499

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0009324
Disease:

Ulcerative Colitis

0.800

GeneticVariation

GWASDB

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

21297633

2011

dbSNP:

rs10781499

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0009324
Disease:

Ulcerative Colitis

0.800

GeneticVariation

GWASCAT

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

21297633

2011

dbSNP:

rs10781500

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0038013
Disease:

Ankylosing spondylitis

0.800

GeneticVariation

GWASCAT

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

21743469

2011

dbSNP:

rs10781500

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0038013
Disease:

Ankylosing spondylitis

0.800

GeneticVariation

GWASDB

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

21743469

2011

dbSNP:

rs4077515

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0009324
Disease:

Ulcerative Colitis

0.800

GeneticVariation

GWASCAT

Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

20228799

2010

dbSNP:

rs4077515

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0010346
Disease:

Crohn Disease

0.800

GeneticVariation

GWASCAT

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

21102463

2010

dbSNP:

rs4077515

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0010346
Disease:

Crohn Disease

0.800

GeneticVariation

GWASDB

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

21102463

2010

dbSNP:

rs4077515

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C0009324
Disease:

Ulcerative Colitis

0.800

GeneticVariation

GWASDB

Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

20228799

2010

dbSNP:

rs149712114

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

GeneticVariation

UNIPROT

A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

19864672

2009

dbSNP:

rs398122362

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

GeneticVariation

UNIPROT

A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

19864672

2009

dbSNP:

rs398122364

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

GeneticVariation

UNIPROT

A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

19864672

2009

dbSNP:

rs149712114

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs398122362

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs398122364

Entrez Id:	64170
Gene Symbol:	CARD9

CARD9

CUI:	C1859353
Disease:

Candidiasis, Familial, 2

0.800

CausalMutation

CLINVAR