WDR48, WD repeat domain 48, 57599

N. diseases: 57; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia
0.010 Biomarker disease BEFREE These data suggest that cyclic hematopoiesis is caused by a defect in the G-CSF signal transduction pathway at a point distal to G-CSF receptor binding that does not involve the early biochemical events leading to p80 tyrosine phosphorylation. 7519075 1994