DisGeNET - a database of gene-disease associations

Recurrent infections, C0239998

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	10555
Gene Symbol:	AGPAT2

AGPAT2

0.100

Biomarker

phenotype

HPO

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79868
Gene Symbol:	ALG13

ALG13

0.100

Biomarker

phenotype

HPO

Entrez Id:	118429
Gene Symbol:	ANTXR2

ANTXR2

0.100

Biomarker

phenotype

HPO

Entrez Id:	8289
Gene Symbol:	ARID1A

ARID1A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	8289
Gene Symbol:	ARID1A

ARID1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	10095
Gene Symbol:	ARPC1B

ARPC1B

0.100

Biomarker

phenotype

HPO

Entrez Id:	8915
Gene Symbol:	BCL10

BCL10

0.100

Biomarker

phenotype

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

Biomarker

phenotype

HPO

Entrez Id:	26580
Gene Symbol:	BSCL2

BSCL2

0.100

Biomarker

phenotype

HPO

Entrez Id:	712
Gene Symbol:	C1QA

C1QA

0.100

Biomarker

phenotype

HPO

Entrez Id:	713
Gene Symbol:	C1QB

C1QB

0.100

Biomarker

phenotype

HPO

Entrez Id:	714
Gene Symbol:	C1QC

C1QC

0.100

Biomarker

phenotype

HPO

Entrez Id:	727
Gene Symbol:	C5

C5

0.100

Biomarker

phenotype

HPO

Entrez Id:	775
Gene Symbol:	CACNA1C

CACNA1C

0.100

Biomarker

phenotype

HPO

Entrez Id:	84433
Gene Symbol:	CARD11

CARD11

0.100

Biomarker

phenotype

HPO

Entrez Id:	857
Gene Symbol:	CAV1

CAV1

0.100

Biomarker

phenotype

HPO

Entrez Id:	284119
Gene Symbol:	CAVIN1

CAVIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1604
Gene Symbol:	CD55

CD55

0.100

Biomarker

phenotype

HPO

Entrez Id:	998
Gene Symbol:	CDC42

CDC42

0.100

Biomarker

phenotype

HPO

Entrez Id:	83879
Gene Symbol:	CDCA7

CDCA7

0.100

Biomarker

phenotype

HPO

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	9382
Gene Symbol:	COG1

COG1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1380
Gene Symbol:	CR2

CR2

0.300

Biomarker

phenotype

GENOMICS_ENGLAND

CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities.

2015