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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 |
|---|---|---|---|---|---|
| C0008297 | Choanal Atresia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0008297 | Choanal Atresia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0008297 | Choanal Atresia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0008297 | Choanal Atresia | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C0008297 | Choanal Atresia | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0008297 | Choanal Atresia | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0220743 | Childhood hypophosphatasia (disorder) | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0264408 | Childhood asthma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0264408 | Childhood asthma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0264408 | Childhood asthma | PSAP | 5660 | prosaposin | P07602 |
| C0264408 | Childhood asthma | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0264408 | Childhood asthma | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0264408 | Childhood asthma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0264408 | Childhood asthma | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0264408 | Childhood asthma | CHIA | 27159 | chitinase acidic | Q9BZP6 |
| C0264408 | Childhood asthma | PC | 5091 | pyruvate carboxylase | P11498 |
| C0264408 | Childhood asthma | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0264408 | Childhood asthma | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0264408 | Childhood asthma | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0264408 | Childhood asthma | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0264408 | Childhood asthma | ACSL3 | 2181 | acyl-CoA synthetase long chain family member 3 | O95573 |
| C0264408 | Childhood asthma | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0264408 | Childhood asthma | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0264408 | Childhood asthma | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0264408 | Childhood asthma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
