KEGG MEDICUS Search Result |
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| Entry | Name |
|---|---|
| 100v1 | ADA deficiency |
| 10133v1 | OPTN mutation |
| 10195v1 | ALG3 deficiency |
| 1019v1 | CDK4 amplification |
| 1019v2 | CDK4 mutation |
| 10243v1 | GPHN deficiency |
| 1027v1 | CDKN1B loss |
| 1027v2 | CDKN1B reduced expression |
| 1027v3 | CDKN1B mutation |
| 10280v1 | SIGMAR1 mutation |
| 1029v1 | CDKN2A deletion |
| 1029v2 | CDKN2A mutation |
| 10329v1 | TMEM5 deficiency |
| 1045v1 | CDX2 overexpression |
| 10559v1 | SLC35A1 mutation |
| 10585v1 | POMT1 deficiency |
| 10599v1 | SLCO1B1 polymorphism for decreased transporter activity |
| 1080v1 | CFTR mutation |
| 10v1 | NAT2 polymorphism for poor drug metabolism |
| 11041v1 | B4GAT1 deficiency |
| 11186v1 | RASSF1 loss |
| 11315v1 | PARK7 mutation |
| 116150v1 | NUS1 deficiency |
| 1200v1 | TPP1 deficiency |
| 120892v1 | LRRK2 mutation |
| 128674v1 | PROKR2 mutations |
| 1371v1 | CPOX deficiency |
| 1373v1 | CPS1 deficiency |
| 1374v1 | CPT1A deficiency |
| 1376v1 | CPT2 deficiency |
| 138050v1 | HGSNAT deficiency |
| 148789v1 | B3GALNT2 deficiency |
| 1499v1 | CTNNB1 mutation |
| 1548v1 | CYP2A6 polymorphism for poor drug metabolism |
| 1555v1 | CYP2B6 polymorphism for poor drug metabolism |
| 1557v1 | CYP2C19 polymorphism for poor drug metabolism |
| 1559v1 | CYP2C9 polymorphism for poor drug metabolism |
| 1565v1 | CYP2D6 polymorphism for poor drug metabolism |
| 1577v1 | CYP3A5 polymorphism for poor drug metabolism |
| 1583v1 | CYP11A1 deficiency |
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