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Entry Name Description Category Pathway Gene
H00242 Liddle syndrome Liddle syndrome (LIDLS) is a rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the ... Cardiovascular disease (LIDLS1) SCNN1B [HSA:6338] [KO:K04825]
(LIDLS2) SCNN1G [HSA:6340] [KO:K04827]
(LIDLS3) SCNN1A [HSA:6337] [KO:K04824]
H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) ... three constitutive subunits (alpha, beta, and gamma) of the epithelial Na+ channel (SCNN1A, SCNN1B, and SCNN1G). Other inherited cause of type 4 RTA includes hyperkalaemia associated with hypertension and ... Urinary system disease (PHA1A) NR3C2 [HSA:4306] [KO:K08555]
(PHA1B1) SCNN1A [HSA:6337] [KO:K04824]
(PHA1B2) SCNN1B [HSA:6338] [KO:K04825]
(PHA1B3) SCNN1G [HSA:6340] [KO:K04827]
(PHA2B) WNK4 [HSA:65266] [KO:K08867]
(PHA2C) WNK1 [HSA:65125] [KO:K08867]
(PHA2D) KLHL3 [HSA:26249] [KO:K10443]
(PHA2E) CUL3 [HSA:8452] [KO:K03869]
H00892 Bronchiectasis with or without elevated sweat chloride Bronchiectasis is a condition in which the airways are permanently dilated due to recurrent inflammation or infection. In many cases, the cause is unknown but recently some of the patients have been shown ... Respiratory system disease (BESC1) SCNN1B [HSA:6338] [KO:K04825]
(BESC2) SCNN1A [HSA:6337] [KO:K04824]
(BESC3) SCNN1G [HSA:6340] [KO:K04827]
H01633 High blood pressure
Hypertension 		High blood pressure (hypertension) is the most frequent classic cardiovascular risk factor and accounts for a large proportion of cardiovascular mortality, the main cause of death worldwide. Hypertension ... Cardiovascular disease (EHT) PTGIS [HSA:5740] [KO:K01831]
(EHT) AGTR1 [HSA:185] [KO:K04166]
(EHT) ADD1 [HSA:118] [KO:K18622]
(EHT) AGT [HSA:183] [KO:K09821]
(EHT) ECE1 [HSA:1889] [KO:K01415]
(EHT) CYP3A5 [HSA:1577] [KO:K17690]
(EHT) NOS3 [HSA:4846] [KO:K13242]
(EHT) GNB3 [HSA:2784] [KO:K07825]
NR3C2 [HSA:4306] [KO:K08555]
(GRA) CYP11B2 [HSA:1585] [KO:K07433]
(GRA) CYP11B1 [HSA:1584] [KO:K00497]
(AME) HSD11B2 [HSA:3291] [KO:K00071]
(LIDLS) SCNN1B [HSA:6338] [KO:K04825]
(LIDLS) SCNN1G [HSA:6340] [KO:K04827]
(LIDLS) SCNN1A [HSA:6337] [KO:K04824]
H02310 Renal tubular acidosis Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different ... Urinary system disease (type 1) SLC4A1 [HSA:6521] [KO:K06573]
(type 1) ATP6V1B1 [HSA:525] [KO:K02147]
(type 1) ATP6V0A4 [HSA:50617] [KO:K02154]
(type 2) SLC4A4 [HSA:8671] [KO:K13575]
(type 3) CA2 [HSA:760] [KO:K18245]
(type 4) SCNN1A [HSA:6337] [KO:K04824]
(type 4) SCNN1B [HSA:6338] [KO:K04825]
(type 4) SCNN1G [HSA:6340] [KO:K04827]
(type 4) NR3C2 [HSA:4306] [KO:K08555]
(type 4) WNK1 [HSA:65125] [KO:K08867]
(type 4) WNK4 [HSA:65266] [KO:K08867]
(type 4) KLHL3 [HSA:26249] [KO:K10443]
(type 4) CUL3 [HSA:8452] [KO:K03869]
1 to 5 of 5
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