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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 |
|---|---|---|---|---|---|
| C3536983 | Familial Hypophosphatemic Rickets | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C3536983 | Familial Hypophosphatemic Rickets | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C3713420 | Familial Hyperaldosteronism | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C3713420 | Familial Hyperaldosteronism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0272199 | Familial Hemophagocytic Lymphocytosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0338484 | Familial Hemiplegic Migraine | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C2931838 | Familial HDL deficiency | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C2931838 | Familial HDL deficiency | FH | 2271 | fumarate hydratase | P07954 |
| C2931838 | Familial HDL deficiency | GPLD1 | 2822 | glycosylphosphatidylinositol specific phospholipase D1 | P80108 |
| C0752207 | Familial Dystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C4551895 | Familial Cold Autoinflammatory Syndrome 1 | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0268393 | Familial Cerebral Amyloid Angiopathy | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0268393 | Familial Cerebral Amyloid Angiopathy | SDC2 | 6383 | syndecan 2 | P34741 |
| C2314896 | Familial Atypical Mole Melanoma Syndrome | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0276496 | Familial Alzheimer Disease (FAD) | LGALS3 | 3958 | galectin 3 | P17931 |
| C0276496 | Familial Alzheimer Disease (FAD) | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0276496 | Familial Alzheimer Disease (FAD) | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0276496 | Familial Alzheimer Disease (FAD) | SDC3 | 9672 | syndecan 3 | O75056 |
| C0276496 | Familial Alzheimer Disease (FAD) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0276496 | Familial Alzheimer Disease (FAD) | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0276496 | Familial Alzheimer Disease (FAD) | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0276496 | Familial Alzheimer Disease (FAD) | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0276496 | Familial Alzheimer Disease (FAD) | CD33 | 945 | CD33 molecule | P20138 |
| C0276496 | Familial Alzheimer Disease (FAD) | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0276496 | Familial Alzheimer Disease (FAD) | GAPDHS | 26330 | glyceraldehyde-3-phosphate dehydrogenase, spermatogenic | O14556 |
