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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 |
|---|---|---|---|---|---|
| C0042109 | Urticaria | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0042109 | Urticaria | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0271097 | Usher Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0271097 | Usher Syndrome | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0271097 | Usher Syndrome | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C1568247 | Usher Syndrome, Type I | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1568248 | Usher Syndrome, Type III | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C2931205 | Usher syndrome, type 1A | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C4721509 | Usual Interstitial Pneumonia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C4721509 | Usual Interstitial Pneumonia | CEL | 1056 | carboxyl ester lipase | P19835 |
| C4721509 | Usual Interstitial Pneumonia | DCN | 1634 | decorin | P07585 |
| C4721509 | Usual Interstitial Pneumonia | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C4721509 | Usual Interstitial Pneumonia | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C4721509 | Usual Interstitial Pneumonia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C4721509 | Usual Interstitial Pneumonia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4721509 | Usual Interstitial Pneumonia | SFTPC | 6440 | surfactant protein C | P11686 |
| C0153567 | Uterine Cancer | FOLR1 | 2348 | folate receptor alpha | P15328 |
| C0153567 | Uterine Cancer | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0153567 | Uterine Cancer | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0153567 | Uterine Cancer | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0153567 | Uterine Cancer | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C0153567 | Uterine Cancer | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0153567 | Uterine Cancer | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0153567 | Uterine Cancer | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0153567 | Uterine Cancer | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
