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 |
|---|---|---|---|---|---|
| C0392475 | Roberts-SC phocomelia syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0392475 | Roberts-SC phocomelia syndrome | MELTF | 4241 | melanotransferrin | P08582 |
| C1853698 | Rippling muscle disease | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C1853698 | Rippling muscle disease | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C1853698 | Rippling muscle disease | FASN | 2194 | fatty acid synthase | P49327 |
| C2939447 | Right ventricular failure | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2939447 | Right ventricular failure | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C2939447 | Right ventricular failure | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C3178806 | Right Atrial Isomerism | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1832229 | Rieger syndrome 2 (disorder) | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0265341 | Rieger syndrome | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C3495489 | Rieger eye malformation sequence | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0035585 | Rickettsia Infections | CS | 1431 | citrate synthase | O75390 |
| C0035585 | Rickettsia Infections | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0035585 | Rickettsia Infections | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0035585 | Rickettsia Infections | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0035585 | Rickettsia Infections | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C3540852 | Rickets, X-Linked Hypophosphatemic | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3540852 | Rickets, X-Linked Hypophosphatemic | KL | 9365 | klotho | Q9UEF7 |
| C0035579 | Rickets | KL | 9365 | klotho | Q9UEF7 |
| C0035579 | Rickets | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0035579 | Rickets | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0035579 | Rickets | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0035579 | Rickets | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0035579 | Rickets | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
