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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 |
|---|---|---|---|---|---|
| C4282398 | Sialidase deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | RENBP | 5973 | renin binding protein | P51606 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1096903 | Sialic Acid Storage Disease, Finnish Type (disorder) | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0037023 | Sialadenitis | CALR | 811 | calreticulin | P27797 |
| C0037023 | Sialadenitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0037019 | Shy-Drager Syndrome | ELOVL7 | 79993 | ELOVL fatty acid elongase 7 | A1L3X0 |
| C0272170 | Shwachman syndrome | LYZ | 4069 | lysozyme | P61626 |
| C0272170 | Shwachman syndrome | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0272170 | Shwachman syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0272170 | Shwachman syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1321551 | Shprintzen-Goldberg syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1321551 | Shprintzen-Goldberg syndrome | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C1321551 | Shprintzen-Goldberg syndrome | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C1321551 | Shprintzen-Goldberg syndrome | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C1321551 | Shprintzen-Goldberg syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0220704 | Shprintzen syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0220704 | Shprintzen syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
