Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0023530
Disease: Leukopenia
Leukopenia
0.110 Biomarker disease HPO