SLFN14, schlafen family member 14, 342618

N. diseases: 13; N. variants: 9
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320715
rs869320715
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223 2016
dbSNP: rs869320715
rs869320715
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575 2015
dbSNP: rs869320715
rs869320715
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 20 		A 0.800 CausalMutation CLINVAR