SLFN14, schlafen family member 14, 342618

N. diseases: 13; N. variants: 9
Disease: Thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 Biomarker phenotype BEFREE To unveil the cellular function of SLFN14 and the link between SLFN14 and thrombocytopenia, we examined SLFN14 (WT/mutants) in in vitro models. 29678925 2018
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 GeneticVariation phenotype BEFREE These results identify SLFN14 mutations as cause for an inherited thrombocytopenia with excessive bleeding, outlining a fundamental role for SLFN14 in platelet formation and function. 26280575 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 GeneticVariation phenotype CLINVAR
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 Biomarker phenotype HPO