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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 |
|---|---|---|---|---|---|
| C0036391 | Schwartz-Jampel Syndrome | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0036391 | Schwartz-Jampel Syndrome | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0036391 | Schwartz-Jampel Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0036391 | Schwartz-Jampel Syndrome | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C4551479 | Schwartz-Jampel Syndrome, Type 1 | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C4551479 | Schwartz-Jampel Syndrome, Type 1 | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0149940 | Sciatic Neuropathy | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0149940 | Sciatic Neuropathy | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0149940 | Sciatic Neuropathy | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0149940 | Sciatic Neuropathy | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0149940 | Sciatic Neuropathy | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C0149940 | Sciatic Neuropathy | CAT | 847 | catalase | P04040 |
| C0149940 | Sciatic Neuropathy | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0149940 | Sciatic Neuropathy | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C0036416 | Scleritis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1853235 | Sclerocornea | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1853235 | Sclerocornea | EFNA5 | 1946 | ephrin A5 | P52803 |
| C1853235 | Sclerocornea | ARSD | 414 | arylsulfatase D | P51689 |
| C1136382 | Sclerocystic Ovaries | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C1136382 | Sclerocystic Ovaries | FUT7 | 2529 | fucosyltransferase 7 | Q11130 |
| C1136382 | Sclerocystic Ovaries | MANEA | 79694 | mannosidase endo-alpha | Q5SRI9 |
| C1136382 | Sclerocystic Ovaries | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1136382 | Sclerocystic Ovaries | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C1136382 | Sclerocystic Ovaries | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C1136382 | Sclerocystic Ovaries | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
