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distal arthrogryposis
Summary
- Synonym
-
- Arthrogryposis Multiplex Congenita
- Definition
- A muscle tissue disease characterized by congenital joint contractures of hand and feet.
- Super Class
- muscle tissue disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2023 | ENO1 | enolase 1 | |
| 2203 | FBP1 | fructose-bisphosphatase 1 | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2678 | GGT1 | gamma-glutamyltransferase 1 | |
| 2719 | GPC3 | glypican 3 | |
| 3099 | HK2 | hexokinase 2 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NCC3 | Lysosomal phospholipase A and acyltransferase | |
| Q8NCH0 | Carbohydrate sulfotransferase 14 | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q9NR19 | Acetyl-coenzyme A synthetase, cytoplasmic | |
| Q9P232 | Contactin-3 |
