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 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: C0023530
Disease: Leukopenia
Leukopenia 		0.110 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018952
Disease: Extramedullary Hematopoiesis Function
Extramedullary Hematopoiesis Function 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 Biomarker phenotype HPO
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood 		0.100 Biomarker phenotype HPO
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.100 Biomarker phenotype HPO
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: 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 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: 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: 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 GeneticVariation disease UNIPROT A congenital neutrophil defect syndrome associated with mutations in VPS45. 23738510 2013