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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 |
|---|---|---|---|---|---|
| C0268634 | Disorder of fatty acid metabolism | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0268634 | Disorder of fatty acid metabolism | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0268634 | Disorder of fatty acid metabolism | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0268634 | Disorder of fatty acid metabolism | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0015397 | Disorder of eye | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0015397 | Disorder of eye | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0015397 | Disorder of eye | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0015397 | Disorder of eye | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0015397 | Disorder of eye | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0015397 | Disorder of eye | ENO1 | 2023 | enolase 1 | P06733 |
| C0015397 | Disorder of eye | ENO2 | 2026 | enolase 2 | P09104 |
| C0015397 | Disorder of eye | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0015397 | Disorder of eye | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0015397 | Disorder of eye | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0015397 | Disorder of eye | CDS2 | 8760 | CDP-diacylglycerol synthase 2 | O95674 |
| C0015397 | Disorder of eye | VCAN | 1462 | versican | P13611 |
| C0015397 | Disorder of eye | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0015397 | Disorder of eye | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0015397 | Disorder of eye | ARSI | 340075 | arylsulfatase family member I | Q5FYB1 |
| C0015397 | Disorder of eye | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0015397 | Disorder of eye | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0015397 | Disorder of eye | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0015397 | Disorder of eye | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0015397 | Disorder of eye | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0015397 | Disorder of eye | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
