Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 Biomarker GENOMICS_ENGLAND SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223

2016
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 GeneticVariation UNIPROT SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223

2016
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 Biomarker GENOMICS_ENGLAND SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575

2015
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 GeneticVariation UNIPROT SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575

2015
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 GermlineCausalMutation ORPHANET SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575

2015
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 Biomarker CTD_human

Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.700 CausalMutation CLINVAR

Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		0.300 Biomarker GENOMICS_ENGLAND SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223

2016
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 Biomarker 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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 GeneticVariation 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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 GeneticVariation CLINVAR

Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.120 Biomarker HPO

Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.100 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419

2011
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419

2011
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.100 Biomarker HPO

Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.100 Biomarker HPO

Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.100 Biomarker HPO

Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		0.100 GeneticVariation CLINVAR

Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 GeneticVariation 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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 AlteredExpression BEFREE SLFN14 expression was specifically induced following influenza virus infection. 28734654

2017
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0740380
Disease: Varicella zoster
Varicella zoster 		0.010 AlteredExpression BEFREE In addition, SLFN14 overexpression promoted antiviral activity against varicella zoster virus (VZV), a DNA virus. 28734654

2017