Short qt syndrome

Disease Term Disease ID Gene Symbol Classification References Source
SHORT QT SYNDROME
C2348199MONDO:0000453
KCNH2 Causal
14676148 15828882 18692916 19340359 21130771 25335996 25974115 28491588 29016797 29574456 29759541 30496390 30571592 30582453 7736582 7889573
ClinGen Disgenet
KCNJ2 Causal
11410627 15761194 19285083 22155372 23375927 23440193
ClinGen Disgenet Orphanet
CACNA1C Unknown — ClinGen Disgenet GenCC
CACNA2D1 Unknown
21383000
ClinGen Disgenet
CACNB2 Unknown — Disgenet
KCNQ1 Unknown
15159330 16109388 24380499 24818999 25974115 26168993 26279191 26346102 28491547 28491751 29213224 8528244 8900283
ClinGen Disgenet GWAS catalog
SCN5A Unknown — Disgenet
SLC22A5 Unknown — ClinGen Disgenet
SLC4A3 Unknown
29167417
ClinGen ClinVar Disgenet
TRPM4 Unknown — Disgenet
VCL Unknown — Disgenet
SHORT QT SYNDROME 1
609620C1865020MESH:C566506
KCNH2 Unknown
18724381 29574456
CTD Disgenet HPO
KCNJ2 Unknown — Disgenet
KCNQ1 Unknown — Disgenet
SHORT QT SYNDROME 2
C1865019609621MESH:C566505
KCNH2 Unknown — Disgenet
KCNJ2 Unknown — Disgenet
KCNQ1 Unknown — CTD Disgenet HPO
SHORT QT SYNDROME 3
C1865018609622MESH:C566504
KCNH2 Unknown — Disgenet
KCNJ2 Unknown — CTD Disgenet HPO
KCNQ1 Unknown — Disgenet
SHORT QT SYNDROME 7
620231C5774304MONDO:0859368
SLC4A3 Causal
29167417
ClinVar Disgenet GWAS catalog HPO
SHORT QT SYNDROME TYPE 1
MONDO:0012312
KCNH2 Causal
14676148 19340359 25335996 21130771 29876509 29016797 28491588 30571592 15828882 18692916 25974115 21310316 31072576 7736582 7889573 29574456 30582453 9547387 15673388 29759541 31049424 30175559 19088443 30496390 30947366
CTD ClinVar
SHORT QT SYNDROME TYPE 2
MONDO:0012313
KCNQ1 Causal
16109388 28491547 15159330 24380499 25974115 26168993 26346102 26279191 28491751 8900283 8528244 29213224
ClinVar GWAS catalog
SHORT QT SYNDROME TYPE 3
MONDO:0012314
KCNJ2 Causal
15761194 17640933 22155372 22371365 8078584
ClinVar Disgenet