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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 |
|---|---|---|---|---|---|
| C0149939 | Obstructive nephropathy | VNN1 | 8876 | vanin 1 | O95497 |
| C0149939 | Obstructive nephropathy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0149939 | Obstructive nephropathy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0149939 | Obstructive nephropathy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0264995 | Occlusion of artery (disorder) | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0264995 | Occlusion of artery (disorder) | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0403555 | Ochoa syndrome | HPSE | 10855 | heparanase | Q9Y251 |
| C0403555 | Ochoa syndrome | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0028817 | Ochronosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1282359 | Ocular Cicatricial Pemphigoid | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0028840 | Ocular Hypertension | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0028840 | Ocular Hypertension | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0028840 | Ocular Hypertension | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0028840 | Ocular Hypertension | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0028840 | Ocular Hypertension | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0028841 | Ocular Hypotension | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0028841 | Ocular Hypotension | PRNP | 5621 | prion protein | P04156 |
| C0028841 | Ocular Hypotension | PRNP | 5621 | prion protein | F7VJQ1 |
| C0342684 | Ocular albinism, type I | STS | 412 | steroid sulfatase | P08842 |
| C0268505 | Ocular albinism, type II | GK | 2710 | glycerol kinase | P32189 |
| C0812437 | Oculo-dento-digital syndrome | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0028860 | Oculocerebrorenal Syndrome | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0028860 | Oculocerebrorenal Syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0028860 | Oculocerebrorenal Syndrome | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0028860 | Oculocerebrorenal Syndrome | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
