SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: Leukopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.020 GeneticVariation disease BEFREE Mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene cause Shwachman-Diamond Syndrome (SDS), a rare congenital disease characterized by bone marrow failure with neutropenia, exocrine pancreatic dysfunction and skeletal abnormalities. 26762974 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.020 GeneticVariation disease BEFREE Most Shwachman-Diamond syndrome patients have mutations in the SBDS gene located at chromosome 7 and suffer from recurrent infections, due to neutropenia in combination with impaired neutrophil chemotaxis. 19211642 2009