CXCR4, C-X-C motif chemokine receptor 4, 7852

N. diseases: 739; N. variants: 23
Disease: Congenital neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.300 Biomarker disease GENOMICS_ENGLAND WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. 15536153 2005
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. 12692554 2003