DisGeNET - a database of gene-disease associations

PKIG, cAMP-dependent protein kinase inhibitor gamma, 11142

N. diseases: 9; N. variants: 25

Disease: Severe Combined Immunodeficiency ×

Variant: rs751635016 ×

Source: ALL

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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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs751635016

1.000

0.120

44622588

missense variant

C/A;T

snv

4.0E-06; 4.0E-06

CUI:	C0085110
Disease:	Severe Combined Immunodeficiency

Severe Combined Immunodeficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases

0.700

1.000

2009