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 |
|---|---|---|---|---|---|
| C0013336 | Dwarfism | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0013336 | Dwarfism | CTSA | 5476 | cathepsin A | P10619 |
| C0013336 | Dwarfism | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0013336 | Dwarfism | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0013336 | Dwarfism | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0013336 | Dwarfism | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0013336 | Dwarfism | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0013336 | Dwarfism | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0013336 | Dwarfism | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0013336 | Dwarfism | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0013336 | Dwarfism | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0013336 | Dwarfism | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0013336 | Dwarfism | HYAL1 | 3373 | hyaluronidase 1 | Q12794 |
| C0013336 | Dwarfism | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0013336 | Dwarfism | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0013336 | Dwarfism | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0013336 | Dwarfism | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0013336 | Dwarfism | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0013336 | Dwarfism | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0013336 | Dwarfism | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0013336 | Dwarfism | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0013336 | Dwarfism | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C0013336 | Dwarfism | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013336 | Dwarfism | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0013336 | Dwarfism | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
