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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 |
|---|---|---|---|---|---|
| C0553580 | Ewings sarcoma | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C0553580 | Ewings sarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0553580 | Ewings sarcoma | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0553580 | Ewings sarcoma | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0553580 | Ewings sarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0553580 | Ewings sarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0553580 | Ewings sarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0553580 | Ewings sarcoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0549622 | Sexual Dysfunction | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0549622 | Sexual Dysfunction | MDGA2 | 161357 | MAM domain containing glycosylphosphatidylinositol anchor 2 | Q7Z553 |
| C0549622 | Sexual Dysfunction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0549622 | Sexual Dysfunction | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0549622 | Sexual Dysfunction | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0549622 | Sexual Dysfunction | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0549567 | Pigmentation Disorders | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0549567 | Pigmentation Disorders | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0549473 | Thyroid carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0549473 | Thyroid carcinoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0549473 | Thyroid carcinoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0549473 | Thyroid carcinoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0549473 | Thyroid carcinoma | ARSA | 410 | arylsulfatase A | P15289 |
| C0549473 | Thyroid carcinoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0549473 | Thyroid carcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0549473 | Thyroid carcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0549473 | Thyroid carcinoma | PARP4 | 143 | poly(ADP-ribose) polymerase family member 4 | Q9UKK3 |
