Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
43 | ACHE | acetylcholinesterase (Yt blood group) | |
231 | AKR1B1 | aldo-keto reductase family 1 member B | |
1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
1557 | CYP2C19 | cytochrome P450 family 2 subfamily C member 19 | |
1559 | CYP2C9 | cytochrome P450 family 2 subfamily C member 9 | |
3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
9469 | CHST3 | carbohydrate sulfotransferase 3 | |
100507436 | MICA | MHC class I polypeptide-related sequence A |
HPO ID | HPO Term |
---|---|
HP:0006499 | Abnormal femoral epiphysis morphology |
HP:0009473 | Joint contracture of the hand |
HP:0010548 | Percussion myotonia |
HP:0011120 | Concave nasal ridge |
HP:0011463 | Childhood onset |
HP:0100284 | EMG: myotonic discharges |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024