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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01738 | Noonan syndrome | Noonan syndrome (NS) is an autosomal dominant disorder characterised by short stature, craniofacial dysmorphism, congenital cardiac defects, cryptorchidism in men, coagulation defects, and neurocognitive ... | Congenital malformation |
(NS1) PTPN11 [HSA:5781] [KO:K07293] (NS3) KRAS [HSA:3845] [KO:K07827] (NS4) SOS1 [HSA:6654] [KO:K03099] (NS5) RAF1 [HSA:5894] [KO:K04366] (NS6) NRAS [HSA:4893] [KO:K07828] (NS7) BRAF [HSA:673] [KO:K04365] (NS8) RIT1 [HSA:6016] [KO:K07832] (NS9) SOS2 [HSA:6655] [KO:K03099] (NS10) LZTR1 [HSA:8216] [KO:K23330] (NS11) MRAS [HSA:22808] [KO:K07831] (NS12) RRAS2 [HSA:22800] [KO:K07830] (NS13) MAPK1 [HSA:5594] [KO:K04371] (NS14) SPRED2 [HSA:200734] [KO:K04703] |
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| H01813 | Lennox-Gastaut syndrome | Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by multiple seizure types, typical findings in the electroencephalogram (EEG), and delayed psychomotor development. Tonic seizures ... | Nervous system disease | MAPK10 [HSA:5602] [KO:K04440] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |