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Entry Name Description Category Pathway Gene
H00720 Long QT syndrome Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity ... Cardiovascular disease (LQT1) KCNQ1 [HSA:3784] [KO:K04926]
(LQT2) KCNH2 [HSA:3757] [KO:K04905]
(LQT3) SCN5A [HSA:6331] [KO:K04838]
(LQT4) ANK2 [HSA:287] [KO:K09255]
(LQT5) KCNE1 [HSA:3753] [KO:K04894]
(LQT6) KCNE2 [HSA:9992] [KO:K04896]
(LQT7) KCNJ2 [HSA:3759] [KO:K04996]
(LQT8) CACNA1C [HSA:775] [KO:K04850]
(LQT9) CAV3 [HSA:859] [KO:K12959]
(LQT10) SCN4B [HSA:6330] [KO:K04848]
(LQT11) AKAP9 [HSA:10142] [KO:K16551]
(LQT12) SNTA1 [HSA:6640] [KO:K24063]
(LQT13) KCNJ5 [HSA:3762] [KO:K04999]
(LQT14) CALM1 [HSA:801] [KO:K02183]
(LQT15) CALM2 [HSA:805] [KO:K02183]
(LQT16) CALM3 [HSA:808] [KO:K02183]
H00728 Brugada syndrome ... sudden cardiac death. Diagnosis is based on clinical findings. Mutations in nine genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4, and KCND3) are known to cause BRS. In approximately 20% of ... Cardiovascular disease (BRGDA1) SCN5A [HSA:6331] [KO:K04838]
(BRGDA2) GPD1L [HSA:23171] [KO:K00006]
(BRGDA3) CACNA1C [HSA:775] [KO:K04850]
(BRGDA4) CACNB2 [HSA:783] [KO:K04863]
(BRGDA5) SCN1B [HSA:6324] [KO:K04845]
(BRGDA6) KCNE3 [HSA:10008] [KO:K04897]
(BRGDA7) SCN3B [HSA:55800] [KO:K04847]
(BRGDA8) HCN4 [HSA:10021] [KO:K04957]
(BRGDA9) KCND3 [HSA:3752] [KO:K04893]
H02397 Neurodevelopmental disorder with movement abnormalities or hypotonia Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or ... Congenital malformation (NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704]
(NEDBASH) NTNG2 [HSA:84628] [KO:K16359]
(NEDIMAE) SYT1 [HSA:6857] [KO:K15290]
(NEDHAHM) VAMP2 [HSA:6844] [KO:K13504]
(NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768]
(NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562]
(NEDHYBA) CLCN3 [HSA:1182] [KO:K05012]
(NEDDISH) MADD [HSA:8567] [KO:K26162]
(NEDEMA) FRMD5 [HSA:84978] [KO:K23969]
(NEDHFS) PGM2L1 [HSA:283209] [KO:K11809]
(NEDHSS) EIF4A2 [HSA:1974] [KO:K03257]
(NEDSTO) TNR [HSA:7143] [KO:K06252]
(NEDSIS) CACNA1I [HSA:8911] [KO:K04856]
(NEDIHSS) ESAM [HSA:90952] [KO:K06787]
(NEDNMS) NRCAM [HSA:4897] [KO:K06756]
(NEDRSO) SNAPC4 [HSA:6621] [KO:K09453]
(NEDMSF) PUM1 [HSA:9698] [KO:K17943]
(NEDHBA) SLC4A10 [HSA:57282] [KO:K13861]
(NEDHLSS) CACNA1C [HSA:775] [KO:K04850]
(NEDHCAS) PIGK [HSA:10026] [KO:K05290]
(NEDDS) SHQ1 [HSA:55164] [KO:K14764]
(NEDHYD) ADCY5 [HSA:111] [KO:K08045]
(NEDNEH) CACNA1B [HSA:774] [KO:K04849]
(NEDHELS) DEAF1 [HSA:10522] [KO:K23041]
(NEDHCS) SNIP1 [HSA:79753] [KO:K13108]
(NEDPM) ACBD6 [HSA:84320] [KO:K27751]
(NEDPBA) PTRHD1 [HSA:391356] [KO:K05969]
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