Disease-gene associations mined from literature

Human genes for severe congenital neutropenia 5

Severe congenital neutropenia 5 [DOID:0112132]

A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2.

Synonyms:  severe congenital neutropenia 5,  DOID:0112132,  congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome,  congenital neutropenia-myelofibrosis-nephromegaly syndrome,  SCN5 ...