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 |
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C1850764 | EPILEPSY, PROGRESSIVE MYOCLONIC 2B | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C1850792 | Congenital myasthenic syndrome ib | AGRN | 375790 | agrin | O00468 |
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 |
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 |
C1850938 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
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 |
C1851413 | EXOSTOSES, MULTIPLE, TYPE II | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
C1851413 | EXOSTOSES, MULTIPLE, TYPE II | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
C1851481 | Erythrokeratodermia with ataxia | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
C1851584 | Childhood Ependymoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
C1851584 | Childhood Ependymoma | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
C1851584 | Childhood Ependymoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C1851584 | Childhood Ependymoma | CALR | 811 | calreticulin | P27797 |
C1851584 | Childhood Ependymoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
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Last updated: August 19, 2024