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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 |
|---|---|---|---|---|---|
| C0342881 | Familial hypercholesterolemia - homozygous | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0342881 | Familial hypercholesterolemia - homozygous | CD14 | 929 | CD14 molecule | P08571 |
| C0340427 | Familial dilated cardiomyopathy | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0340427 | Familial dilated cardiomyopathy | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0340427 | Familial dilated cardiomyopathy | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0340427 | Familial dilated cardiomyopathy | FKTN | 2218 | fukutin | O75072 |
| C0343068 | Familial cold urticaria | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0343068 | Familial cold urticaria | HPSE | 10855 | heparanase | Q9Y251 |
| C0085106 | Familial benign pemphigus | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0220669 | Familial benign neonatal epilepsy | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
| C0431399 | Familial aplasia of the vermis | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0431399 | Familial aplasia of the vermis | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0431399 | Familial aplasia of the vermis | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0431399 | Familial aplasia of the vermis | INPP5B | 3633 | inositol polyphosphate-5-phosphatase B | P32019 |
| C0431399 | Familial aplasia of the vermis | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0751483 | Familial Retinoblastoma | RENBP | 5973 | renin binding protein | P51606 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | PRNP | 5621 | prion protein | P04156 |
| C0030443 | Familial Periodic Paralysis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1720860 | Familial Partial Lipodystrophy, Type 2 | LPL | 4023 | lipoprotein lipase | P06858 |
| C3665488 | Familial Osteochondritis Dissecans | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C3665488 | Familial Osteochondritis Dissecans | ACAN | 176 | aggrecan | P16112 |
