Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02213 |
Familial adult myoclonic epilepsy Benign adult familial myoclonic epilepsy |
... suggested that abnormal expansions of TTTCA and TTTTA repeats in introns of SAMD12, TNRC6A and RAPGEF2 cause this disease. Recently, Autosomal recessive form with a mutation in CNTN2 gene has been reported. | Nervous system disease |
(FAME1) SAMD12 [HSA:401474] (FAME2) STARD7 [HSA:56910] [KO:K24141] (FAME3) MARCH6 [HSA:10299] [KO:K10661] (FAME4) YEATS2 [HSA:55689] [KO:K24539] (FAME5) CNTN2 [HSA:6900] [KO:K06760] (FAME6) TNRC6A [HSA:27327] [KO:K18412] (FAME7) RAPGEF2 [HSA:9693] [KO:K08018] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |