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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 |
|---|---|---|---|---|---|
| C0004352 | Autistic Disorder | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0004352 | Autistic Disorder | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0004352 | Autistic Disorder | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0004352 | Autistic Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0004352 | Autistic Disorder | CS | 1431 | citrate synthase | O75390 |
| C0004352 | Autistic Disorder | ENO2 | 2026 | enolase 2 | P09104 |
| C0004352 | Autistic Disorder | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C0004352 | Autistic Disorder | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0004352 | Autistic Disorder | PC | 5091 | pyruvate carboxylase | P11498 |
| C0004352 | Autistic Disorder | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0004352 | Autistic Disorder | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0004352 | Autistic Disorder | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0004352 | Autistic Disorder | CD38 | 952 | CD38 molecule | P28907 |
| C0004352 | Autistic Disorder | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0004352 | Autistic Disorder | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0004352 | Autistic Disorder | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0004352 | Autistic Disorder | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0004352 | Autistic Disorder | ACAN | 176 | aggrecan | P16112 |
| C0004352 | Autistic Disorder | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0004352 | Autistic Disorder | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0004352 | Autistic Disorder | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0004352 | Autistic Disorder | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0004352 | Autistic Disorder | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0004352 | Autistic Disorder | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0004352 | Autistic Disorder | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
