Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C2678439 | CRANIOOSTEOARTHROPATHY | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C2678065 | Myofibrillar Myopathy | CS | 1431 | citrate synthase | O75390 |
| C2678065 | Myofibrillar Myopathy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2678061 | SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C2678038 | Alopecia, Androgenetic, 2 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C2677586 | Spastic Paraplegia 39, Autosomal Recessive | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C2677567 | DYSTONIA 16 (disorder) | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C2676272 | Alopecia, Androgenetic, 3 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | ALDOC | 230 | aldolase, fructose-bisphosphate C | P09972 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | GPC3 | 2719 | glypican 3 | P51654 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | RGN | 9104 | regucalcin | Q15493 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2675528 | Spastic Paraplegia 42, Autosomal Dominant | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C2675527 | Myopathy, Congenital, Compton-North | CNTN1 | 1272 | contactin 1 | Q12860 |
