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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0039841 | Thiamine Deficiency | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0039841 | Thiamine Deficiency | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
| C0039841 | Thiamine Deficiency | TKT | 7086 | transketolase | P29401 |
| C1300257 | Thanatophoric dysplasia, type 2 | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C0039743 | Thanatophoric Dysplasia | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0085578 | Thalassemia Minor | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0085578 | Thalassemia Minor | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0271979 | Thalassemia Intermedia | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0271979 | Thalassemia Intermedia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0271979 | Thalassemia Intermedia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0271979 | Thalassemia Intermedia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0271979 | Thalassemia Intermedia | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0271979 | Thalassemia Intermedia | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0271979 | Thalassemia Intermedia | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0271979 | Thalassemia Intermedia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0271979 | Thalassemia Intermedia | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0271979 | Thalassemia Intermedia | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0271979 | Thalassemia Intermedia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0271979 | Thalassemia Intermedia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0271979 | Thalassemia Intermedia | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0271979 | Thalassemia Intermedia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0039730 | Thalassemia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0039730 | Thalassemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0039730 | Thalassemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C0039730 | Thalassemia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
