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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 |
|---|---|---|---|---|---|
| C0022521 | Kartagener Syndrome | NTM | 50863 | neurotrimin | Q9P121 |
| C0022410 | Joint Instability | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0022408 | Arthropathy | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0022408 | Arthropathy | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0022408 | Arthropathy | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0022408 | Arthropathy | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0022408 | Arthropathy | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0022408 | Arthropathy | DCN | 1634 | decorin | P07585 |
| C0022408 | Arthropathy | ACAN | 176 | aggrecan | P16112 |
| C0022408 | Arthropathy | LGALS3 | 3958 | galectin 3 | P17931 |
| C0022408 | Arthropathy | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0022408 | Arthropathy | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0022408 | Arthropathy | SFTPD | 6441 | surfactant protein D | P35247 |
| C0022408 | Arthropathy | CD14 | 929 | CD14 molecule | P08571 |
| C0022408 | Arthropathy | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0022408 | Arthropathy | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0022387 | Jervell-Lange Nielsen Syndrome | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0022354 | Jaundice, Obstructive | LYZ | 4069 | lysozyme | P61626 |
| C0022354 | Jaundice, Obstructive | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0022354 | Jaundice, Obstructive | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0022354 | Jaundice, Obstructive | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0022354 | Jaundice, Obstructive | CD14 | 929 | CD14 molecule | P08571 |
| C0022354 | Jaundice, Obstructive | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022354 | Jaundice, Obstructive | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0022354 | Jaundice, Obstructive | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
