DisGeNET - a database of gene-disease associations

GNPTAB, N-acetylglucosamine-1-phosphate transferase subunits alpha and beta, 79158

N. diseases: 139; N. variants: 161

Disease: Recurrent pneumonia ×

Variant: rs1555269154 ×

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555269154

rs1555269154

Entrez Id:	79158
Gene Symbol:	GNPTAB

GNPTAB

CUI:	C0694550
Disease:

Recurrent pneumonia

CACTTTGTG

0.700

GeneticVariation

CLINVAR