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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 |
|---|---|---|---|---|---|
| C0221757 | alpha 1-Antitrypsin Deficiency | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0221757 | alpha 1-Antitrypsin Deficiency | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0221757 | alpha 1-Antitrypsin Deficiency | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0221757 | alpha 1-Antitrypsin Deficiency | CAT | 847 | catalase | P04040 |
| C0221757 | alpha 1-Antitrypsin Deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0221757 | alpha 1-Antitrypsin Deficiency | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0221757 | alpha 1-Antitrypsin Deficiency | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C2713321 | alpha-L-Iduronidase Deficiency | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0024748 | alpha-Mannosidosis | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C0024748 | alpha-Mannosidosis | MAN2C1 | 4123 | mannosidase alpha class 2C member 1 | Q9NTJ4 |
| C0002312 | alpha-Thalassemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002312 | alpha-Thalassemia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0002312 | alpha-Thalassemia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0002312 | alpha-Thalassemia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0002312 | alpha-Thalassemia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0002312 | alpha-Thalassemia | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0002312 | alpha-Thalassemia | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0002312 | alpha-Thalassemia | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0002312 | alpha-Thalassemia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0002312 | alpha-Thalassemia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0002312 | alpha-Thalassemia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0005283 | beta Thalassemia | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0005283 | beta Thalassemia | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0005283 | beta Thalassemia | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0005283 | beta Thalassemia | CHIT1 | 1118 | chitinase 1 | Q13231 |
