DisGeNET - a database of gene-disease associations

Source: ALL

Disease: MYELOKATHEXIS, ISOLATED ×

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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:	7852
Gene Symbol:	CXCR4

CXCR4

CUI:	C1834176
Disease:	MYELOKATHEXIS, ISOLATED

MYELOKATHEXIS, ISOLATED

0.400

Biomarker

GENOMICS_ENGLAND

WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12.

15536153

2005

Entrez Id:	7852
Gene Symbol:	CXCR4

CXCR4

CUI:	C1834176
Disease:	MYELOKATHEXIS, ISOLATED

MYELOKATHEXIS, ISOLATED

0.400

CausalMutation

CLINVAR