Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.140 GeneticVariation BEFREE WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow retention of neutrophils. 29177911

2018
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.140 AlteredExpression BEFREE Thus, myelokathexis associated with abnormally high neutrophil CXCR4 expression may contribute to neutropenia in G6PC3 deficiency and responds well to granulocyte colony-stimulating factor. 20616219

2010
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.140 GeneticVariation BEFREE Autosomal dominant gain-of-function truncations of CXCR4 are associated with warts, hypo-gammaglobulinemia, infections, and myelokathexis (WHIM) syndrome, a primary immunodeficiency disorder characterized by neutropenia and recurrent infections. 20592249

2010
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.140 Biomarker BEFREE A prominent and unexplained feature of WHIM is myelokathexis (hypercellularity with apoptosis of mature myeloid cells in bone marrow and neutropenia). 16946301

2007