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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 |
|---|---|---|---|---|---|
| C0271051 | Macular retinal edema | CALR | 811 | calreticulin | P27797 |
| C0271073 | Eales disease | LGALS1 | 3956 | galectin 1 | P09382 |
| C0271084 | Exudative age-related macular degeneration | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0271084 | Exudative age-related macular degeneration | FUT6 | 2528 | fucosyltransferase 6 | P51993 |
| C0271084 | Exudative age-related macular degeneration | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0271084 | Exudative age-related macular degeneration | CALR | 811 | calreticulin | P27797 |
| C0271084 | Exudative age-related macular degeneration | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
| C0271084 | Exudative age-related macular degeneration | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0271084 | Exudative age-related macular degeneration | CD93 | 22918 | CD93 molecule | Q9NPY3 |
| C0271084 | Exudative age-related macular degeneration | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0271084 | Exudative age-related macular degeneration | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0271084 | Exudative age-related macular degeneration | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0271084 | Exudative age-related macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0271084 | Exudative age-related macular degeneration | PLA2G12A | 81579 | phospholipase A2 group XIIA | Q9BZM1 |
| C0271084 | Exudative age-related macular degeneration | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0271084 | Exudative age-related macular degeneration | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0271084 | Exudative age-related macular degeneration | ARSF | 416 | arylsulfatase F | P54793 |
| C0271093 | Stargardt's disease | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0271093 | Stargardt's disease | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0271093 | Stargardt's disease | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271093 | Stargardt's disease | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0271093 | Stargardt's disease | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0271093 | Stargardt's disease | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0271097 | Usher Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0271097 | Usher Syndrome | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
