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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01209 | Deafness, X-linked | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... | Nervous system disease |
(DFNX1) PRPS1 [HSA:5631] [KO:K00948] (DFNX2) POU3F4 [HSA:5456] [KO:K09365] (DFNX4) SMPX [HSA:23676] [KO:K24209] (DFNX5) AIFM1 [HSA:9131] [KO:K04727] (DFNX6) COL4A6 [HSA:1288] [KO:K06237] (DFNX7) GPRASP2 [HSA:114928] [KO:K26197] |
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| H01640 |
Uterine leiomyoma Fibroid |
... least 4 molecular subclasses: leiomyomas with MED12 mutation, FH inactivation, HMGA2 overexpression, and COL4A6-COL4A5 deletion. While it is thought that the initial events that trigger leiomyoma tumorigenesis ... | Reproductive system disease |
HMGA2 (rearrangement) [HSA:8091] [KO:K09283] MED12 (mutation) [HSA:9968] [KO:K15162] COL4A6-COL4A5 (deletion) [HSA:1288 1287] [KO:K06237] Fumarate hydratase (FH) (inactivation) [HSA:2271] [KO:K01679] |
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