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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 |
|---|---|---|---|---|---|
| C0751651 | Mitochondrial Diseases | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0751651 | Mitochondrial Diseases | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0751651 | Mitochondrial Diseases | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0751651 | Mitochondrial Diseases | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0751651 | Mitochondrial Diseases | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0751651 | Mitochondrial Diseases | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0751651 | Mitochondrial Diseases | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0751651 | Mitochondrial Diseases | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0751651 | Mitochondrial Diseases | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0751651 | Mitochondrial Diseases | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0751651 | Mitochondrial Diseases | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0751651 | Mitochondrial Diseases | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0751651 | Mitochondrial Diseases | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C3501372 | Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0162666 | Mitochondrial Encephalomyopathies | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0162666 | Mitochondrial Encephalomyopathies | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0162670 | Mitochondrial Myopathies | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0162670 | Mitochondrial Myopathies | CS | 1431 | citrate synthase | O75390 |
| C0162670 | Mitochondrial Myopathies | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0162670 | Mitochondrial Myopathies | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0162670 | Mitochondrial Myopathies | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0162670 | Mitochondrial Myopathies | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
