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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 |
|---|---|---|---|---|---|
| C0005940 | Bone Diseases | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0005940 | Bone Diseases | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0005940 | Bone Diseases | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0005940 | Bone Diseases | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0005940 | Bone Diseases | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0005940 | Bone Diseases | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0005940 | Bone Diseases | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0005940 | Bone Diseases | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0005940 | Bone Diseases | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C0005940 | Bone Diseases | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0005940 | Bone Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0005940 | Bone Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0005940 | Bone Diseases | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| 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 |
| C0005859 | Bloom Syndrome | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0005859 | Bloom Syndrome | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0005859 | Bloom Syndrome | CAT | 847 | catalase | P04040 |
| C0005859 | Bloom Syndrome | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C0005859 | Bloom Syndrome | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0005818 | Blood Platelet Disorders | HPSE | 10855 | heparanase | Q9Y251 |
| C0005818 | Blood Platelet Disorders | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
