Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 CausalMutation disease CLINVAR Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 27577878 2017
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease 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
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency. 25492228 2015
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease CLINVAR Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. 25391451 2014
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. 23018568 2013
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT G6PC3 mutations cause non-syndromic severe congenital neutropenia. 23298686 2013
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GermlineCausalMutation disease ORPHANET A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. 23018568 2013
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. 24105461 2013
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 CausalMutation disease CLINVAR A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. 23758768 2013
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 CausalMutation disease CLINVAR Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. 22050868 2012
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease BEFREE Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. 23171239 2012
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 CausalMutation disease CLINVAR Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. 22469094 2012
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. 22050868 2012
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. 22469094 2012
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 CausalMutation disease CLINVAR Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. 20717171 2011
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 Biomarker disease GENOMICS_ENGLAND Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. 20717171 2011
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT Digenic mutations in severe congenital neutropenia. 20220065 2010
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GermlineCausalMutation disease ORPHANET Mutations in the G6PC3 gene cause Dursun syndrome. 20799326 2010
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT Mutations in the G6PC3 gene cause Dursun syndrome. 20799326 2010
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. 20616219 2010
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 Biomarker disease GENOMICS_ENGLAND Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. 20616219 2010
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease UNIPROT A syndrome with congenital neutropenia and mutations in G6PC3. 19118303 2009
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 CausalMutation disease CLINVAR Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. 19775295 2009
CUI: C2675526
Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Recessive 4 		0.710 GeneticVariation disease CLINVAR A syndrome with congenital neutropenia and mutations in G6PC3. 19118303 2009