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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 |
|---|---|---|---|---|---|
| C1851413 | EXOSTOSES, MULTIPLE, TYPE II | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1851100 | LAURIN-SANDROW SYNDROME | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C1851100 | LAURIN-SANDROW SYNDROME | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C1850938 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1850900 | Familial primary gastric lymphoma | CHST2 | 9435 | carbohydrate sulfotransferase 2 | Q9Y4C5 |
| C1850900 | Familial primary gastric lymphoma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C1850900 | Familial primary gastric lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1850900 | Familial primary gastric lymphoma | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C1850900 | Familial primary gastric lymphoma | CEL | 1056 | carboxyl ester lipase | P19835 |
| C1850900 | Familial primary gastric lymphoma | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1850900 | Familial primary gastric lymphoma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1850900 | Familial primary gastric lymphoma | SELL | 6402 | selectin L | P14151 |
| C1850900 | Familial primary gastric lymphoma | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C1850900 | Familial primary gastric lymphoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1850889 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1850889 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | ANXA5 | 308 | annexin A5 | P08758 |
| C1850792 | Congenital myasthenic syndrome ib | AGRN | 375790 | agrin | O00468 |
| C1850764 | EPILEPSY, PROGRESSIVE MYOCLONIC 2B | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C1850625 | Native American myopathy | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
