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 |
|---|---|---|---|---|---|
| C1864172 | Peroxisome Biogenesis Disorder, Complementation Group G | AGA | 175 | aspartylglucosaminidase | P20933 |
| C1864233 | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1864446 | Retinitis Pigmentosa 25 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C1864446 | Retinitis Pigmentosa 25 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1864651 | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | PSAP | 5660 | prosaposin | P07602 |
| C1864738 | Corneal Dystrophy, Congenital Stromal | DCN | 1634 | decorin | P07585 |
| C1864849 | RETINAL CONE DYSTROPHY 4 | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C1864872 | Spondyloepimetaphyseal dysplasia, Genevieve type | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C1864923 | Northern epilepsy syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1864948 | Hyperinsulinemic Hypoglycemia, Familial, 4 | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C1865020 | Short QT Syndrome 1 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1865145 | Congenital disorder of glycosylation type 1B | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1865145 | Congenital disorder of glycosylation type 1B | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1865233 | Muscular Dystrophy, Congenital, Megaconial Type | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1865233 | Muscular Dystrophy, Congenital, Megaconial Type | CHKA | 1119 | choline kinase alpha | P35790 |
| C1865290 | Hyperinsulinemic hypoglycemia, familial, 3 | GCK | 2645 | glucokinase | P35557 |
| C1865322 | MIGRAINE, FAMILIAL HEMIPLEGIC, 2 | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C1865343 | OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1865343 | OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE | DCN | 1634 | decorin | P07585 |
| C1865343 | OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE | LSS | 4047 | lanosterol synthase | P48449 |
| C1865349 | Ethylmalonic encephalopathy | ANXA5 | 308 | annexin A5 | P08758 |
| C1865349 | Ethylmalonic encephalopathy | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C1865427 | GLAUCOMA 1, OPEN ANGLE, D (disorder) | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C1865614 | HEMOCHROMATOSIS, TYPE 2A | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C1865868 | ALZHEIMER DISEASE 5 | STS | 412 | steroid sulfatase | P08842 |
