HAX1, HCLS1 associated protein X-1, 10456

N. diseases: 59; N. variants: 9
Disease: Severe congenital neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype CTD_human
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		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
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype BEFREE Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency. 20128427 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype BEFREE HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 17187068 2007
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 CausalMutation phenotype CLINVAR A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities. 22102707 2012
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype UNIPROT A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). 19796188 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		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
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype GENOMICS_ENGLAND 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
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GermlineCausalMutation phenotype ORPHANET 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
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		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
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Biallelic mutations in the antiapoptotic gene HAX1 were identified in patients with autosomal recessive SCN. 21206270 2011
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype GENOMICS_ENGLAND By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. 18337561 2008
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		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
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 CausalMutation phenotype CLINVAR By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. 18337561 2008
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. 18513342 2008
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. 19120359 2009
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype GENOMICS_ENGLAND Diagnosis, genetics, and management of inherited bone marrow failure syndromes. 18024606 2007
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 CausalMutation phenotype CLINVAR Digenic mutations in severe congenital neutropenia. 20220065 2010
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype UNIPROT Digenic mutations in severe congenital neutropenia. 20220065 2010
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		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
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 GeneticVariation phenotype BEFREE Further work-up revealed severe congenital neutropenia caused by a homozygous mutation (R86X) in the antiapoptotic molecule HAX1. 18330843 2007
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype BEFREE Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis. 23975175 2014
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.800 Biomarker phenotype GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		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
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		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