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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02213 |
Familial adult myoclonic epilepsy Benign adult familial myoclonic epilepsy |
... and dementia. It has been 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 ... | 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] |
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| H02543 | Acromesomelic dysplasia | Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations ... | Congenital malformation |
(AMD1) NPR2 [HSA:4882] [KO:K12324] (AMD2) GDF5 [HSA:8200] [KO:K04664] (AMD3) BMPR1B [HSA:658] [KO:K13578] (AMD4) PRKG2 [HSA:5593] [KO:K19477] |
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