Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.540 GeneticVariation disease BEFREE How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45. 30294941 2019
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.540 GeneticVariation disease BEFREE The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. 23599270 2013
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.540 GeneticVariation disease BEFREE We report on a girl with SCN and neurological impairment harboring a homozygous p.E238K mutation in VPS45 (vacuolar sorting protein 45). 26358756 2015
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.540 Biomarker disease BEFREE Structural modeling indicates that P468, like the T224 and E238 residues affected by previously reported mutations, cluster in a VPS45 "hinge" region, indicating its critical role in membrane fusion and VPS45-associated SCN. 28453180 2017
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.340 GeneticVariation phenotype BEFREE How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45. 30294941 2019
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.340 GeneticVariation phenotype BEFREE We report on a girl with SCN and neurological impairment harboring a homozygous p.E238K mutation in VPS45 (vacuolar sorting protein 45). 26358756 2015
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.340 Biomarker phenotype BEFREE Structural modeling indicates that P468, like the T224 and E238 residues affected by previously reported mutations, cluster in a VPS45 "hinge" region, indicating its critical role in membrane fusion and VPS45-associated SCN. 28453180 2017
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.340 GeneticVariation phenotype BEFREE The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. 23599270 2013
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.110 GeneticVariation disease BEFREE Using homozygosity mapping followed by exome sequencing, we identified a Thr224Asn mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threatening neutropenia, which was refractory to granulocyte CSF, from defective platelet aggregation and myelofibrosis. 23599270 2013
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 GeneticVariation disease BEFREE Using homozygosity mapping followed by exome sequencing, we identified a Thr224Asn mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threatening neutropenia, which was refractory to granulocyte CSF, from defective platelet aggregation and myelofibrosis. 23599270 2013
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.040 GeneticVariation disease BEFREE A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis. 28453180 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.040 GeneticVariation disease BEFREE The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. 23599270 2013
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.040 Biomarker disease BEFREE VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation. 24164830 2013
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.040 GeneticVariation disease BEFREE How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45. 30294941 2019
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		0.030 GeneticVariation disease BEFREE How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45. 30294941 2019
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		0.030 GeneticVariation disease BEFREE A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis. 28453180 2017
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		0.030 Biomarker disease BEFREE VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation. 24164830 2013
CUI: C0010414
Disease: Infection by Cryptococcus neoformans
Infection by Cryptococcus neoformans 		0.010 Biomarker disease BEFREE The Sec1/Munc18 (SM) protein Vps45 is involved in iron uptake, mitochondrial function and virulence in the pathogenic fungus Cryptococcus neoformans. 30071112 2018
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.010 GeneticVariation group BEFREE Defective endosomal intracellular protein trafficking due to biallelic mutations in VPS45 underlies a new immunodeficiency syndrome involving impaired neutrophil function. 23738510 2013
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.010 Biomarker disease BEFREE The diagnosis of VPS 45-associated PMF should be considered in all children presenting with SCN with subsequent development of pancytopenia. 24164830 2013
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		0.010 Biomarker disease BEFREE We present a case of a pediatric patient with primary myelofibrosis of infancy caused by VPS45 protein deficiency, who developed severe refractory hemolytic anemia and immune-mediated thrombocytopenia 3.5 months following HSCT. 31544339 2020
CUI: C1861101
Disease: THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT 		0.010 GeneticVariation disease BEFREE A congenital neutrophil defect syndrome associated with mutations in VPS45. 23738510 2013
CUI: C2613439
Disease: Extramedullary Hematopoiesis (disorder)
Extramedullary Hematopoiesis (disorder) 		0.010 Biomarker disease BEFREE VPS45-associated severe congenital neutropenia (SCN) is a rare disorder characterized by life-threating infections, neutropenia, neutrophil and platelet dysfunction, poor response to filgrastim, and myelofibrosis with extramedullary hematopoiesis. 28453180 2017
CUI: C3809031
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C3809031
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human