DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Long QT Syndrome 1 ×

Gene: KCNQ1 ×

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:

rs199472697

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs199472701

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472700

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472699

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472698

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472696

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472695

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472694

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472690

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472688

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472686

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472685

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472682

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472681

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472679

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199472678

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs17215479

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199473457

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.810

GeneticVariation

UNIPROT

Evidence of a long QT founder gene with varying phenotypic expression in South African families.

8818942

1996

dbSNP:

rs199472804

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.810

GeneticVariation

UNIPROT

Evidence of a long QT founder gene with varying phenotypic expression in South African families.

8818942

1996

dbSNP:

rs199472755

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.810

GeneticVariation

UNIPROT

Evidence of a long QT founder gene with varying phenotypic expression in South African families.

8818942

1996

dbSNP:

rs120074193

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.810

GeneticVariation

UNIPROT

Evidence of a long QT founder gene with varying phenotypic expression in South African families.

8818942

1996

dbSNP:

rs120074191

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.810

GeneticVariation

UNIPROT

Evidence of a long QT founder gene with varying phenotypic expression in South African families.

8818942

1996

dbSNP:

rs120074178

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.810

GeneticVariation

UNIPROT

Evidence of a long QT founder gene with varying phenotypic expression in South African families.

8818942

1996

dbSNP:

rs74462309

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.800

GeneticVariation

UNIPROT

Evidence of a long QT founder gene with varying phenotypic expression in South African families.

8818942

1996

dbSNP:

rs199473443

KCNQ1

CUI:	C4551647
Disease:	Long QT Syndrome 1

Long QT Syndrome 1

0.800

GeneticVariation

UNIPROT

Evidence of a long QT founder gene with varying phenotypic expression in South African families.

8818942

1996