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 GeneticVariation phenotype BEFREE Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. 19120359 2009
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Biallelic mutations in the antiapoptotic gene HAX1 were identified in patients with autosomal recessive SCN. 21206270 2011
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Homozygous mutations in the HAX1 gene were described in patients with autosomal recessive SCN or Kostmann disease. 23050867 2013
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused by HAX1 mutations]). 25597510 2015
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Recent studies have shown that homozygous mutations in the HAX1 gene are associated with autosomal recessive forms of severe congenital neutropenia (also known as Kostmann disease), and results from studies in mice and men are beginning to unravel a prominent role for HAX-1 in apoptosis signaling not only in the hematopoietic compartment, but also in the central nervous system. 19524642 2009
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations. 24482108 2014
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. 18513342 2008
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE We report a patient who presented in the first year of life with visceral involvement and severe neutropenia in whom the propositus had a unique coexistence of Gaucher Disease and severe congenital neutropenia associated with a mutation in HAX1. 30473482 2019
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype UNIPROT By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. 18337561 2008
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE This review highlights historical milestones and our current understanding of SCN related to mutations in HAX1. 27943080 2017
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency. 19123440 2008
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype UNIPROT After further molecular screening of individuals with SCN, we identified 19 additional affected individuals with homozygous HAX1 mutations, including three belonging to the original pedigree described by Kostmann. 17187068 2007
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE We described an SCN patient with a homozygous 256C-to-T transition causing an R86X mutation in the HAX1 gene. 18055975 2007
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Our report describes the only nonsense mutation in the HAX1 gene present in SCN patients of Arab origin. 20182745 2010
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. 19036076 2009
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE The HCLS1-associated protein X1 (HAX1) mutation is associated with an autosomal-recessive form of SCN. 30698159 2018
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. 18337561 2008
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE ELANE mutations correlated with more severe periodontal status than the HAX1 or unknown mutations in patients with SCN. 21796505 2011
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE It is now well-established that mutations in HAX1 and ELANE (and more rarely in other genes) are the genetic cause of SCN. 26637693 2015
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Recently, homozygous mutations in the antiapoptotic gene HAX1 were found in patients with autosomal recessive severe congenital neutropenia. 17917547 2007
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. 19499579 2009
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry. 31321910 2019
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype UNIPROT A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). 19796188 2009
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). 28681255 2017
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		0.800 GeneticVariation phenotype BEFREE We sought to determine the relationship between HAX1 gene mutations and the clinical characteristics of Japanese cases of SCN. 18611981 2008