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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 |
|---|---|---|---|---|---|
| C0392476 | Epiphyseal dysplasia | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0392476 | Epiphyseal dysplasia | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0392476 | Epiphyseal dysplasia | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0392476 | Epiphyseal dysplasia | ARSB | 411 | arylsulfatase B | P15848 |
| C0392476 | Epiphyseal dysplasia | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0392476 | Epiphyseal dysplasia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0392475 | Roberts-SC phocomelia syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0392475 | Roberts-SC phocomelia syndrome | MELTF | 4241 | melanotransferrin | P08582 |
| C0392464 | Ventricular aneurysm | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0392164 | Pulmonary Cystic Fibrosis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0392164 | Pulmonary Cystic Fibrosis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0392164 | Pulmonary Cystic Fibrosis | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0392077 | Cardiac sarcoidosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0392077 | Cardiac sarcoidosis | CALR | 811 | calreticulin | P27797 |
| C0392006 | Unilateral cleft lip | TNKS2 | 80351 | tankyrase 2 | Q9H2K2 |
| C0392006 | Unilateral cleft lip | TNKS | 8658 | tankyrase | O95271 |
| C0391976 | Pain Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0391976 | Pain Disorder | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0391826 | Lhermitte-Duclos disease | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0391826 | Lhermitte-Duclos disease | IL18RAP | 8807 | interleukin 18 receptor accessory protein | O95256 |
| C0391826 | Lhermitte-Duclos disease | ACAN | 176 | aggrecan | P16112 |
| C0391826 | Lhermitte-Duclos disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0391826 | Lhermitte-Duclos disease | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0391826 | Lhermitte-Duclos disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0376670 | Pancreatitis, Alcoholic | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
