Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome. 24750412 2015
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency. 25492228 2015
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. 23018568 2013
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. 24105461 2013
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT G6PC3 mutations cause non-syndromic severe congenital neutropenia. 23298686 2013
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. 22469094 2012
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. 22050868 2012
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT Digenic mutations in severe congenital neutropenia. 20220065 2010
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. 20616219 2010
dbSNP: rs762019955
rs762019955
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.700 GeneticVariation UNIPROT A syndrome with congenital neutropenia and mutations in G6PC3. 19118303 2009