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Entry Name Description Category Pathway Gene
H00728 Brugada syndrome ... 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 the cases BRS is caused by mutations ... 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]
H00729 Sick sinus syndrome
Sinus node dysfunction 		... in the SCN5A gene, and autosomal dominant type (SSS2) can be caused by heterozygous mutation in the HCN4. SCN5A encodes an alpha-subunit of the cardiac sodium channel carrying the current to form a rapid ... Cardiovascular disease (SSS1) SCN5A [HSA:6331] [KO:K04838]
(SSS2) HCN4 [HSA:10021] [KO:K04957]
(SSS3) MYH6 [HSA:4624] [KO:K17751]
(SSS4) GNB2 [HSA:2783] [KO:K04537]
H00808 Idiopathic generalized epilepsies Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence ... Nervous system disease (EIG6) CACNA1H [HSA:8912] [KO:K04855]
(EIG8) CASR [HSA:846] [KO:K04612]
(EIG9) CACNB4 [HSA:785] [KO:K04865]
(EIG10) GABRD [HSA:2563] [KO:K05184]
(EIG11) CLCN2 [HSA:1181] [KO:K05011]
(EIG12) SLC2A1 [HSA:6513] [KO:K07299]
(EIG13) GABRA1 [HSA:2554] [KO:K05175]
(EIG14) SLC12A5 [HSA:57468] [KO:K23967]
(EIG15) RORB [HSA:6096] [KO:K08533]
(EIG16) KCNMA1 [HSA:3778] [KO:K04936]
(EIG18) HCN4 [HSA:10021] [KO:K04957]
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