Disease

Angelman Syndrome

About the Disease
Angelman Syndrome, also known as as, is related to prader-willi syndrome and angelman syndrome due to imprinting defect in 15q11-q13, and has symptoms including constipation, seizures and tremor, limb. An important gene associated with Angelman Syndrome is UBE3A (Ubiquitin Protein Ligase E3A), and among its related pathways/superpathways are Prader-Willi and Angelman syndrome and Miscellaneous transport and binding events. The drugs Carbidopa and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and skin, and related phenotypes are eeg abnormality and ataxia

Common Targets
GRM5 | G142 | TRPV1 | RHOBTB2 | CHRM1 | SIGMAR1 | GABA(A) receptor | KCNQ3 | Sodium channel (nonspecified subtype) | ASXL3 | TCF4 | Neurotrophic Factor (nonspecified subtype) | SNRPN | ATP10A | TBL1XR1 | SPTAN1 | UBE3A | NMDA receptor | DLG4 | MIR183 | HERC2 | RNF4 | LAS1L | SNURF | GABRA5 | SMARCE1 | SYNGAP1 | CLTC | LAMTOR1 | CHMP7 | SLC6A1 | STAG1 | SATB2 | PTPA | KIF1A | CDKN1C | MC1R | SLC9A6 | AP3B2 | Protein Phosphatase 2A | DDC | VAMP2

疾病靶点研报
Angelman Syndrome

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