Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
JERVELL AND LANGE-NIELSEN SYNDROME	90647 MONDO:0002441 MONDO:0009078	KCNQ1	Causal	11223304 11226272 20301579 24093767 24206879 25187895 26084842 27041150 27868350 29037160 9020846	ClinGen GWAS catalog Orphanet
JERVELL AND LANGE-NIELSEN SYNDROME	90647 MONDO:0002441 MONDO:0009078	KCNE1	Unknown	20301579 24093767	GWAS catalog Orphanet
JERVELL AND LANGE-NIELSEN SYNDROME 1	220400 C4551509 MONDO:0024540	KCNQ1	Causal	31983240 9020846 23392653 23591039 27041150 27868350 11226272 25187895	ClinVar Disgenet GWAS catalog HPO
JERVELL AND LANGE-NIELSEN SYNDROME 1	220400 C4551509 MONDO:0024540	KCNE1	Unknown	—	Disgenet
JERVELL AND LANGE-NIELSEN SYNDROME 2	612347 C2676723 MESH:C567343 MONDO:0012871	KCNE1	Causal	16461811 19862833 22539601	CTD ClinVar Disgenet GWAS catalog HPO
JERVELL-LANGE NIELSEN SYNDROME	C0022387 MESH:D029593	KCNE1	Unknown	9354783	CTD Disgenet
JERVELL-LANGE NIELSEN SYNDROME	C0022387 MESH:D029593	KCNQ1	Unknown	—	CTD Disgenet

Jervell and lange-nielsen syndrome