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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 |
|---|---|---|---|---|---|
| C0025362 | Mental Retardation | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0025362 | Mental Retardation | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0025362 | Mental Retardation | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0025362 | Mental Retardation | GPC3 | 2719 | glypican 3 | P51654 |
| C0025362 | Mental Retardation | GK | 2710 | glycerol kinase | P32189 |
| C0025362 | Mental Retardation | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
| C0025362 | Mental Retardation | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0025362 | Mental Retardation | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0025362 | Mental Retardation | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0025362 | Mental Retardation | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0025362 | Mental Retardation | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0025362 | Mental Retardation | ARSD | 414 | arylsulfatase D | P51689 |
| C0025362 | Mental Retardation | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0025362 | Mental Retardation | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0025362 | Mental Retardation | PAFAH1B3 | 5050 | platelet activating factor acetylhydrolase 1b catalytic subunit 3 | Q15102 |
| C0025362 | Mental Retardation | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0025362 | Mental Retardation | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C2675487 | Mental Retardation, Autosomal Dominant 4 | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| 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 |
