DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: SLFN14 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs757188030

SLFN14

CUI:	C4310797
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 20

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:

rs757188030

SLFN14

CUI:	C4310797
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 20

BLEEDING DISORDER, PLATELET-TYPE, 20

0.800

GeneticVariation

UNIPROT

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

26280575

2015

dbSNP:

rs869320714

SLFN14

CUI:	C4310797
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 20

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:

rs869320714

SLFN14

CUI:	C4310797
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 20

BLEEDING DISORDER, PLATELET-TYPE, 20

0.800

GeneticVariation

UNIPROT

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

26280575

2015

dbSNP:

rs869320715

SLFN14

CUI:	C4310797
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 20

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

SLFN14

CUI:	C4310797
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 20

BLEEDING DISORDER, PLATELET-TYPE, 20

0.800

GeneticVariation

UNIPROT

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

26280575

2015

dbSNP:

rs869320716

SLFN14

CUI:	C4310797
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 20

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:

rs869320716

SLFN14

CUI:	C4310797
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 20

BLEEDING DISORDER, PLATELET-TYPE, 20

0.800

GeneticVariation

UNIPROT

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

26280575

2015