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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00239 | Bartter syndrome | Bartter syndrome is a heterogeneous rare disease unified by autosomal recessive transmission. Bartter syndrome is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated ... | Endocrine and metabolic disease |
(BARTS1) SLC12A1 [HSA:6557] [KO:K14425] (BARTS2) KCNJ1 [HSA:3758] [KO:K04995] (BARTS3) CLCNKB [HSA:1188] [KO:K05018] (BARTS4A) BSND [HSA:7809] [KO:K19331] (BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018] (BARTS5) MAGED2 [HSA:10916] [KO:K24127] (HYPOC1) CASR [HSA:846] [KO:K04612] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |