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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 |
|---|---|---|---|---|---|
| C0238462 | Medullary carcinoma of thyroid | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0238462 | Medullary carcinoma of thyroid | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C2939174 | Medullary cystic disease | UMOD | 7369 | uromodulin | P07911 |
| C0025149 | Medulloblastoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0025149 | Medulloblastoma | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0025149 | Medulloblastoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0025149 | Medulloblastoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0025149 | Medulloblastoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0025149 | Medulloblastoma | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0025149 | Medulloblastoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0025149 | Medulloblastoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0025149 | Medulloblastoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0025149 | Medulloblastoma | LDHB | 3945 | lactate dehydrogenase B | P07195 |
| C0025149 | Medulloblastoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0025149 | Medulloblastoma | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0025149 | Medulloblastoma | SDC1 | 6382 | syndecan 1 | P18827 |
| C0025149 | Medulloblastoma | TNKS | 8658 | tankyrase | O95271 |
| C0025149 | Medulloblastoma | VCAN | 1462 | versican | P13611 |
| C0025149 | Medulloblastoma | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0025149 | Medulloblastoma | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0025149 | Medulloblastoma | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0025149 | Medulloblastoma | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0025149 | Medulloblastoma | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0025149 | Medulloblastoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0025149 | Medulloblastoma | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
