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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 |
|---|---|---|---|---|---|
| C1510472 | Drug Dependence | PLA2R1 | 22925 | phospholipase A2 receptor 1 | Q13018 |
| C1510472 | Drug Dependence | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1510472 | Drug Dependence | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1510489 | Cerebral Amyloid Angiopathy, Hereditary | SDC2 | 6383 | syndecan 2 | P34741 |
| C1510497 | Lens Opacities | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1510497 | Lens Opacities | GALK1 | 2584 | galactokinase 1 | P51570 |
| C1510497 | Lens Opacities | ALDH3A1 | 218 | aldehyde dehydrogenase 3 family member A1 | P30838 |
| C1510502 | Oxyphilic Adenoma | HYAL4 | 23553 | hyaluronidase 4 | Q2M3T9 |
| C1510502 | Oxyphilic Adenoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C1510502 | Oxyphilic Adenoma | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1510502 | Oxyphilic Adenoma | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C1510502 | Oxyphilic Adenoma | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C1510502 | Oxyphilic Adenoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1510502 | Oxyphilic Adenoma | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C1510502 | Oxyphilic Adenoma | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C1510502 | Oxyphilic Adenoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1510586 | Autism Spectrum Disorders | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1510586 | Autism Spectrum Disorders | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1510586 | Autism Spectrum Disorders | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C1510586 | Autism Spectrum Disorders | GALNT17 | 64409 | polypeptide N-acetylgalactosaminyltransferase 17 | Q6IS24 |
| C1510586 | Autism Spectrum Disorders | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C1510586 | Autism Spectrum Disorders | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C1510586 | Autism Spectrum Disorders | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1510586 | Autism Spectrum Disorders | ARSA | 410 | arylsulfatase A | P15289 |
| C1510586 | Autism Spectrum Disorders | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
