Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R 		colony stimulating factor 3 receptor 0.550 0.692 1.5E-10
CUI: C0543669
Disease: Neutrophilia, Hereditary
Neutrophilia, Hereditary 		disease 0.830 None 1.000 0 1 1998 2014
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R 		colony stimulating factor 3 receptor 0.550 0.692 1.5E-10
CUI: C4310764
Disease: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE 		disease 0.700 strong 1.000 1 7 2009 2015
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R 		colony stimulating factor 3 receptor 0.550 0.692 1.5E-10
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.500 None 0.980 1 1 1995 2019
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R 		colony stimulating factor 3 receptor 0.550 0.692 1.5E-10
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease 0.440 None 1.000 1 2 1997 2016
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R 		colony stimulating factor 3 receptor 0.550 0.692 1.5E-10
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		phenotype 0.200 None 0.967 0 1 1994 2020