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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 |
|---|---|---|---|---|---|
| C0005779 | Blood Coagulation Disorders | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0005779 | Blood Coagulation Disorders | CAT | 847 | catalase | P04040 |
| C0005779 | Blood Coagulation Disorders | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0005779 | Blood Coagulation Disorders | CD14 | 929 | CD14 molecule | P08571 |
| C0005779 | Blood Coagulation Disorders | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0005779 | Blood Coagulation Disorders | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0005779 | Blood Coagulation Disorders | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0005779 | Blood Coagulation Disorders | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0005779 | Blood Coagulation Disorders | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0005779 | Blood Coagulation Disorders | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0005779 | Blood Coagulation Disorders | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C0005779 | Blood Coagulation Disorders | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0005779 | Blood Coagulation Disorders | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0005779 | Blood Coagulation Disorders | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0005806 | Blood Group Incompatibility | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0005806 | Blood Group Incompatibility | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0005818 | Blood Platelet Disorders | HPSE | 10855 | heparanase | Q9Y251 |
| C0005818 | Blood Platelet Disorders | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0005818 | Blood Platelet Disorders | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0005818 | Blood Platelet Disorders | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0005859 | Bloom Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0005859 | Bloom Syndrome | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0005859 | Bloom Syndrome | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0005859 | Bloom Syndrome | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0005859 | Bloom Syndrome | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
