DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neutrophil count decreased ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7355
Gene Symbol:	SLC35A2

SLC35A2

CUI:	C0853697
Disease:	Neutrophil count decreased

Neutrophil count decreased

0.100

GeneticVariation

CLINVAR

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

30817854

2019

Entrez Id:	1991
Gene Symbol:	ELANE

ELANE

CUI:	C0853697
Disease:	Neutrophil count decreased

Neutrophil count decreased

0.100

CausalMutation

CLINVAR

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

CUI:	C0853697
Disease:	Neutrophil count decreased

Neutrophil count decreased

0.100

CausalMutation

CLINVAR

Entrez Id:	5261
Gene Symbol:	PHKG2

PHKG2

CUI:	C0853697
Disease:	Neutrophil count decreased

Neutrophil count decreased

0.100

CausalMutation

CLINVAR