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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 |
|---|---|---|---|---|---|
| C0033999 | Pterygium | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0033999 | Pterygium | ICAM2 | 3384 | intercellular adhesion molecule 2 | P13598 |
| C0033999 | Pterygium | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0033999 | Pterygium | SEMA7A | 8482 | semaphorin 7A (John Milton Hagen blood group) | O75326 |
| C0033999 | Pterygium | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0033999 | Pterygium | ALDH3A1 | 218 | aldehyde dehydrogenase 3 family member A1 | P30838 |
| C0033999 | Pterygium | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0033999 | Pterygium | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0033999 | Pterygium | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0033999 | Pterygium | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0033999 | Pterygium | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0033999 | Pterygium | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1866376 | Pten Hamartoma Tumor Syndrome With Granular Cell Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1866376 | Pten Hamartoma Tumor Syndrome With Granular Cell Tumor | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0033975 | Psychotic Disorders | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0033975 | Psychotic Disorders | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0033975 | Psychotic Disorders | ST3GAL1 | 6482 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 | Q11201 |
| C0033975 | Psychotic Disorders | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0033975 | Psychotic Disorders | ARSB | 411 | arylsulfatase B | P15848 |
| C0033975 | Psychotic Disorders | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0033975 | Psychotic Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0033975 | Psychotic Disorders | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0033975 | Psychotic Disorders | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0033975 | Psychotic Disorders | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0033975 | Psychotic Disorders | CALR | 811 | calreticulin | P27797 |
