SLFN14, schlafen family member 14, 342618

N. diseases: 13; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 Biomarker disease GENOMICS_ENGLAND SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223 2016
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 GeneticVariation disease UNIPROT SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223 2016
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 Biomarker disease GENOMICS_ENGLAND SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575 2015
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 GeneticVariation disease UNIPROT SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575 2015
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 GermlineCausalMutation disease ORPHANET SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575 2015
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 Biomarker disease CTD_human
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 CausalMutation disease CLINVAR
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		0.300 Biomarker group GENOMICS_ENGLAND SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223 2016
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
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.100 Biomarker phenotype HPO
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.100 Biomarker phenotype HPO
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.100 Biomarker phenotype HPO
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 GeneticVariation group BEFREE In conclusion, the mutations of c.1187delT of PCDHGA4 and c.2557insC of SLFN14 may be pathogenic factors contributing to the development of ASD. 30536060 2018
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 AlteredExpression group BEFREE SLFN14 expression was specifically induced following influenza virus infection. 28734654 2017
CUI: C0740380
Disease: Varicella zoster
Varicella zoster 		0.010 AlteredExpression disease BEFREE In addition, SLFN14 overexpression promoted antiviral activity against varicella zoster virus (VZV), a DNA virus. 28734654 2017