a rare, congenital disorder that affects the brain, skin, and eyes. abnormal blood vessel growth occurs in the trigeminal nerve in the face and the meninges (covering) of the brain. this abnormal growth causes red or purple skin discoloration (sometimes called a port wine stain), usually on one side of the face, and can also cause seizures, learning disabilities, and glaucoma. also called sturge-weber syndrome.
fly | 遺伝子名 | sws |
同義語(エイリアス) | olfactory E; Protein Swiss cheese; CG2212; olfE; olfE: olfactory E; swiss cheese | |
SWISS-PROTのID | SWISS-PROT:Q9U969 | |
EntrezGeneのID | EntrezGene:31716 | |
その他のDBのID | FlyBase:FBgn0003656 |
human | 遺伝子名 | SWS |
同義語(エイリアス) | SJS2; CD118; LIFR; LIF-R; leukemia inhibitory factor receptor; Leukemia inhibitory factor receptor precursor; LIF receptor; leukemia inhibitory factor receptor alpha; CD118 antigen; STWS | |
SWISS-PROTのID | SWISS-PROT:P42702 | |
EntrezGeneのID | EntrezGene:3977 | |
その他のDBのID | HGNC:6597 |
human | 遺伝子名 | sws |
同義語(エイリアス) | patatin-like phospholipase domain containing 6; PNPLA6; NTE | |
SWISS-PROTのID | --- | |
EntrezGeneのID | EntrezGene:10908 | |
その他のDBのID | HGNC:16268 |
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