Jervell-lange nielsen syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Jervell and Lange-Nielsen syndrome 90647 KCNE1 Causal Pathogenic evidence from ClinVar - ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar - ClinVar
Jervell And Lange-Nielsen Syndrome 1 C4551509 KCNE1 Causal Pathogenic evidence from ClinVar 9354783 ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar 8528244, 9781056, 9950666, 10090886, 10728423, 18400097, 18441444, 25705178, 28595573, 29372044, 29697308 ClinVar
KCNQ1-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNQ1OT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) C2676723 KCNE1 Causal Pathogenic evidence from ClinVar 8982171, 9328483, 9354783, 9445165, 9670922, 9790991, 9933245, 10400998, 10973849, 11003695, 11832382, 12132284, 19716085, 21676880, 26168993 ClinVar
Jervell-Lange Nielsen Syndrome C0022387 KCNE1 Causal Pathogenic evidence from ClinVar 9354783, 9354802, 9445165, 11320260, 12566567, 15840476, 16818210, 19008479, 19340287, 19521339, 19716085, 24093767, 24400172, 24561134, 24606995, 26187847 ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar 9020846, 10482963, 10560595, 10704188, 11223304, 11226272, 11530100, 12051962, 14510661, 15466642, 15840476, 19716085, 22309168, 22539601, 23098067, 23631430, 24093767, 24206879, 24552659, 24666684, 24912595, 25187895, 26084842, 26546361, 27041150, 27868350, 29037160 ClinVar