DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: IMMUNODEFICIENCY 36 ×

Variant: rs1561299903 ×

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:

rs1561299903

PIK3R1

CUI:	C4014934
Disease:	IMMUNODEFICIENCY 36

IMMUNODEFICIENCY 36

0.700

CausalMutation

CLINVAR

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

24886349

2014

dbSNP:

rs1561299903

PIK3R1

CUI:	C4014934
Disease:	IMMUNODEFICIENCY 36

IMMUNODEFICIENCY 36

0.700

CausalMutation

CLINVAR

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

23810378

2013

dbSNP:

rs1561299903

PIK3R1

CUI:	C4014934
Disease:	IMMUNODEFICIENCY 36

IMMUNODEFICIENCY 36

0.700

CausalMutation

CLINVAR

Mutations in PIK3R1 cause SHORT syndrome.

23810382

2013