DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: IMMUNODEFICIENCY 36 ×

Variant: rs587777709 ×

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:

rs587777709

PIK3R1

CUI:	C4014934
Disease:	IMMUNODEFICIENCY 36

IMMUNODEFICIENCY 36

0.700

CausalMutation

CLINVAR

De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.

26529633

2016

dbSNP:

rs587777709

PIK3R1

CUI:	C4014934
Disease:	IMMUNODEFICIENCY 36

IMMUNODEFICIENCY 36

0.700

CausalMutation

CLINVAR

A human immunodeficiency caused by mutations in the PIK3R1 gene.

25133428

2014

dbSNP:

rs587777709

PIK3R1

CUI:	C4014934
Disease:	IMMUNODEFICIENCY 36

IMMUNODEFICIENCY 36

0.700

CausalMutation

CLINVAR

A human immunodeficiency caused by mutations in the PIK3R1 gene.

25133428

2014

dbSNP:

rs587777709

PIK3R1

CUI:	C4014934
Disease:	IMMUNODEFICIENCY 36

IMMUNODEFICIENCY 36

0.700

CausalMutation

CLINVAR

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

25488983

2014

dbSNP:

rs587777709

PIK3R1

CUI:	C4014934
Disease:	IMMUNODEFICIENCY 36

IMMUNODEFICIENCY 36

0.700

CausalMutation

CLINVAR

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

22351933

2012

dbSNP:

rs587777709

PIK3R1

CUI:	C4014934
Disease:	IMMUNODEFICIENCY 36

IMMUNODEFICIENCY 36

0.700

CausalMutation

CLINVAR