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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C3714756 | Intellectual Disability | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C3714756 | Intellectual Disability | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C3714756 | Intellectual Disability | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C3714756 | Intellectual Disability | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C3714756 | Intellectual Disability | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C3714756 | Intellectual Disability | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C3714756 | Intellectual Disability | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C3714756 | Intellectual Disability | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C3714756 | Intellectual Disability | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C3714756 | Intellectual Disability | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C3714756 | Intellectual Disability | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C3714756 | Intellectual Disability | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3714756 | Intellectual Disability | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C3714756 | Intellectual Disability | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C3714756 | Intellectual Disability | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C3714756 | Intellectual Disability | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C3714756 | Intellectual Disability | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C3714756 | Intellectual Disability | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C3714756 | Intellectual Disability | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C3714756 | Intellectual Disability | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C3714756 | Intellectual Disability | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C3714756 | Intellectual Disability | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C3714756 | Intellectual Disability | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3714756 | Intellectual Disability | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
