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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 | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0004352 | Autistic Disorder | ARSI | 340075 | arylsulfatase family member I | Q5FYB1 |
| C0004352 | Autistic Disorder | STS | 412 | steroid sulfatase | P08842 |
| C0004352 | Autistic Disorder | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0004352 | Autistic Disorder | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0004352 | Autistic Disorder | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0004352 | Autistic Disorder | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0004352 | Autistic Disorder | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0004352 | Autistic Disorder | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0004352 | Autistic Disorder | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0004352 | Autistic Disorder | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0004352 | Autistic Disorder | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0004352 | Autistic Disorder | CAT | 847 | catalase | P04040 |
| C0004352 | Autistic Disorder | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0004352 | Autistic Disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0004352 | Autistic Disorder | LIPG | 9388 | lipase G, endothelial type | Q9Y5X9 |
| C0004352 | Autistic Disorder | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0004352 | Autistic Disorder | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
| C0004352 | Autistic Disorder | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0004352 | Autistic Disorder | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0004352 | Autistic Disorder | AMY1B | 277 | amylase alpha 1B | P04745 |
| C0004352 | Autistic Disorder | AMY1A | 276 | amylase alpha 1A | P04745 |
| C0004352 | Autistic Disorder | AMY1C | 278 | amylase alpha 1C | P04745 |
| C0004352 | Autistic Disorder | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0004352 | Autistic Disorder | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
