Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809031
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation disease ORPHANET A congenital neutrophil defect syndrome associated with mutations in VPS45. 23738510 2013
CUI: C3809031
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. 23599270 2013
CUI: C3809031
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT A congenital neutrophil defect syndrome associated with mutations in VPS45. 23738510 2013
CUI: C3809031
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C3809031
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
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 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: 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 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 Biomarker disease CTD_human 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 Biomarker disease GENOMICS_ENGLAND The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. 23599270 2013
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 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 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 CTD_human The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. 23599270 2013
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: C2931351
Disease: Familial myelofibrosis
Familial myelofibrosis 		0.300 Biomarker disease CTD_human The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. 23599270 2013
CUI: C4755251
Disease: Congenital neutropenia, myelofibrosis, nephromegaly syndrome
Congenital neutropenia, myelofibrosis, nephromegaly syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND 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: C0023530
Disease: Leukopenia
Leukopenia 		0.110 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 Biomarker disease HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression. 30626913 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression. 30626913 2019
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO