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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0376480 | Gingival Overgrowth | GUSB | 2990 | glucuronidase beta | P08236 |
C0376480 | Gingival Overgrowth | IDUA | 3425 | alpha-L-iduronidase | P35475 |
C0376480 | Gingival Overgrowth | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0376480 | Gingival Overgrowth | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
C0376480 | Gingival Overgrowth | SC5D | 6309 | sterol-C5-desaturase | O75845 |
C0376532 | Epilepsy, Rolandic | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
C0376532 | Epilepsy, Rolandic | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0376532 | Epilepsy, Rolandic | MDGA2 | 161357 | MAM domain containing glycosylphosphatidylinositol anchor 2 | Q7Z553 |
C0376532 | Epilepsy, Rolandic | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
C0376544 | Hematopoietic Neoplasms | A4GALT | 53947 | alpha 1,4-galactosyltransferase (P blood group) | Q9NPC4 |
C0376544 | Hematopoietic Neoplasms | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
C0376544 | Hematopoietic Neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0376544 | Hematopoietic Neoplasms | CD109 | 135228 | CD109 molecule | Q6YHK3 |
C0376544 | Hematopoietic Neoplasms | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0376544 | Hematopoietic Neoplasms | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0376544 | Hematopoietic Neoplasms | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0376544 | Hematopoietic Neoplasms | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0376544 | Hematopoietic Neoplasms | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
C0376545 | Hematologic Neoplasms | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
C0376545 | Hematologic Neoplasms | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0376545 | Hematologic Neoplasms | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0376545 | Hematologic Neoplasms | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
C0376545 | Hematologic Neoplasms | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
C0376545 | Hematologic Neoplasms | SPACA3 | 124912 | sperm acrosome associated 3 | Q8IXA5 |
C0376545 | Hematologic Neoplasms | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
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Last updated: August 19, 2024