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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 |
|---|---|---|---|---|---|
| C0020676 | Hypothyroidism | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0020676 | Hypothyroidism | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020676 | Hypothyroidism | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0020676 | Hypothyroidism | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0020676 | Hypothyroidism | SLC2A8 | 29988 | solute carrier family 2 member 8 | Q9NY64 |
| C0020676 | Hypothyroidism | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0020676 | Hypothyroidism | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0020676 | Hypothyroidism | SLC2A12 | 154091 | solute carrier family 2 member 12 | Q8TD20 |
| C0020676 | Hypothyroidism | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020676 | Hypothyroidism | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0020676 | Hypothyroidism | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0020676 | Hypothyroidism | ANXA5 | 308 | annexin A5 | P08758 |
| C0020676 | Hypothyroidism | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0020676 | Hypothyroidism | LGALS3 | 3958 | galectin 3 | P17931 |
| C0020676 | Hypothyroidism | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0020676 | Hypothyroidism | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0020676 | Hypothyroidism | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0020676 | Hypothyroidism | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0020676 | Hypothyroidism | PIK3C3 | 5289 | phosphatidylinositol 3-kinase catalytic subunit type 3 | Q8NEB9 |
| C0020676 | Hypothyroidism | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0020676 | Hypothyroidism | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0020676 | Hypothyroidism | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0020676 | Hypothyroidism | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0020676 | Hypothyroidism | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0020676 | Hypothyroidism | CAT | 847 | catalase | P04040 |
