Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.500 GeneticVariation disease BEFREE In general, heterozygous mutations in KCNQ1 cause Romano-Ward syndrome (LQT1 only), while homozygous mutations cause JLNS (LQT1 and deafness). 12388934 2002
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.500 CausalMutation disease CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.500 CausalMutation disease CLINVAR Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423 2000
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.500 GeneticVariation disease BEFREE Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.500 CausalMutation disease CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.500 CausalMutation disease CLINVAR Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.500 CausalMutation disease CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.500 CausalMutation disease CLINVAR KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136 1997
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.500 CausalMutation disease CLINVAR Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006 1997