Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 Biomarker phenotype CTD_human
Entrez Id: 2672
Gene Symbol: GFI1
GFI1 		0.270 Biomarker phenotype MGD
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R 		0.200 CausalMutation phenotype CLINVAR
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG 		0.010 GeneticVariation phenotype BEFREE Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia. 18594157 2008
Entrez Id: 1991
Gene Symbol: ELANE
ELANE 		0.100 GeneticVariation phenotype BEFREE Severe congenital neutropenia (SCN) is a genetically heterogeneous syndrome associated with mutations of ELANE (ELA2), HAX1, GFI1, WAS, CSF3R or G6PC3. 19775295 2009
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Severe congenital neutropenia (SCN) is a genetically heterogeneous syndrome associated with mutations of ELANE (ELA2), HAX1, GFI1, WAS, CSF3R or G6PC3. 19775295 2009
Entrez Id: 2672
Gene Symbol: GFI1
GFI1 		0.270 GeneticVariation phenotype BEFREE Severe congenital neutropenia (SCN) is a genetically heterogeneous syndrome associated with mutations of ELANE (ELA2), HAX1, GFI1, WAS, CSF3R or G6PC3. 19775295 2009
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R 		0.200 GeneticVariation phenotype BEFREE Severe congenital neutropenia (SCN) is a genetically heterogeneous syndrome associated with mutations of ELANE (ELA2), HAX1, GFI1, WAS, CSF3R or G6PC3. 19775295 2009
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 Biomarker phenotype BEFREE Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency. 20128427 2009
Entrez Id: 3059
Gene Symbol: HCLS1
HCLS1 		0.020 GeneticVariation phenotype BEFREE Kostmann disease is caused by homozygous mutations in the gene encoding the mitochondrial protein HCLS1-associated X1. 20177699 2010
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3 		0.100 GeneticVariation phenotype BEFREE Severe congenital neutropenia type 4 (SCN4) is associated with mutations in the G6PC3 gene. 23441086 2013
Entrez Id: 1991
Gene Symbol: ELANE
ELANE 		0.100 Biomarker phenotype BEFREE Severe congenital neutropenia: new lane for ELANE. 24458273 2014
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3 		0.100 GeneticVariation phenotype BEFREE Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. 25391451 2014
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3 		0.100 GeneticVariation phenotype BEFREE Severe congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity. 25491320 2014
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.040 GeneticVariation phenotype BEFREE Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. 26808373 2016
Entrez Id: 1991
Gene Symbol: ELANE
ELANE 		0.100 Biomarker phenotype BEFREE Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE. 30028820 2019
Entrez Id: 1991
Gene Symbol: ELANE
ELANE 		0.100 GeneticVariation phenotype BEFREE Severe congenital neutropenia 1 (SCN1) caused by ELANE mutations is a rare disease characterized by very low numbers of circulating neutrophils. 31176364 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.010 GeneticVariation phenotype BEFREE Severe congenital neutropenia 1 (SCN1) caused by ELANE mutations is a rare disease characterized by very low numbers of circulating neutrophils. 31176364 2019
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R 		0.200 GeneticVariation phenotype BEFREE Severe congenital neutropenia terminating in acute myeloid leukemia: disease progression associated with mutations in the granulocyte-colony stimulating factor receptor gene. 8913314 1996
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R 		0.200 GeneticVariation phenotype BEFREE G-CSF receptor mutations in patients with severe congenital neutropenia do not abrogate Jak2 activation and stat1/stat3 translocation. 10372134 1999
Entrez Id: 1440
Gene Symbol: CSF3
CSF3 		0.100 Biomarker phenotype BEFREE G-CSF-induced neutrophils of patients with SCN are functionally defective (eg, chemotaxis, superoxide anion generation, Ca(++ )mobilization). 10779444 2000
Entrez Id: 1991
Gene Symbol: ELANE
ELANE 		0.100 AlteredExpression phenotype BEFREE ELA2 transcript levels are up-regulated in bone marrow of an SCN patient with the -199 C to A substitution. 14594802 2004
Entrez Id: 1991
Gene Symbol: ELANE
ELANE 		0.100 GeneticVariation phenotype BEFREE ELA2 mutations are also the most common cause of congenital neutropenia, where their presence may equate with a more severe clinical course and higher frequency of leukemic progression. 15561677 2004
Entrez Id: 1440
Gene Symbol: CSF3
CSF3 		0.100 Biomarker phenotype BEFREE Granulocyte colony-stimulating factor (GCSF) administration has been linked to the development of monosomy 7 in severe congenital neutropenia and aplastic anemia. 16980411 2006
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 Biomarker phenotype BEFREE HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 17187068 2007