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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 |
|---|---|---|---|---|---|
| C1136085 | Monoclonal Gammapathies | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C1136085 | Monoclonal Gammapathies | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1136249 | Mental Retardation, X-Linked | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1136249 | Mental Retardation, X-Linked | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C1136249 | Mental Retardation, X-Linked | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1136249 | Mental Retardation, X-Linked | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C1136249 | Mental Retardation, X-Linked | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
| C1136249 | Mental Retardation, X-Linked | CALR | 811 | calreticulin | P27797 |
| C1136249 | Mental Retardation, X-Linked | IL18RAP | 8807 | interleukin 18 receptor accessory protein | O95256 |
| C1136249 | Mental Retardation, X-Linked | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C1136249 | Mental Retardation, X-Linked | STS | 412 | steroid sulfatase | P08842 |
| C1136249 | Mental Retardation, X-Linked | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1136249 | Mental Retardation, X-Linked | ARSD | 414 | arylsulfatase D | P51689 |
| C1136249 | Mental Retardation, X-Linked | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| 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 |
| C1136382 | Sclerocystic Ovaries | LPCAT2 | 54947 | lysophosphatidylcholine acyltransferase 2 | Q7L5N7 |
| C1136382 | Sclerocystic Ovaries | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C1136382 | Sclerocystic Ovaries | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C1136382 | Sclerocystic Ovaries | FBXO44 | 93611 | F-box protein 44 | Q9H4M3 |
