DisGeNET - a database of gene-disease associations

Romano-Ward Syndrome, C0035828

Variant: rs199472696 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199472696

KCNQ1

0.700

CausalMutation

CLINVAR

Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

23392653

2013

dbSNP:

rs199472696

KCNQ1

0.700

CausalMutation

CLINVAR

PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.

19934648

2010

dbSNP:

rs199472696

KCNQ1

0.700

CausalMutation

CLINVAR

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

15840476

2005

dbSNP:

rs199472696

KCNQ1

0.700

CausalMutation

CLINVAR

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

10973849

2000

dbSNP:

rs199472696

KCNQ1

0.700

CausalMutation

CLINVAR

KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

9386136

1997

dbSNP:

rs199472696

KCNQ1

0.700

CausalMutation

CLINVAR

Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

9312006

1997