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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 |
|---|---|---|---|---|---|
| C1510586 | Autism Spectrum Disorders | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1510586 | Autism Spectrum Disorders | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C1510586 | Autism Spectrum Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C1510586 | Autism Spectrum Disorders | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1510586 | Autism Spectrum Disorders | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C1510586 | Autism Spectrum Disorders | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C1510586 | Autism Spectrum Disorders | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C1510586 | Autism Spectrum Disorders | AMT | 275 | aminomethyltransferase | P48728 |
| C1510586 | Autism Spectrum Disorders | HAGH | 3029 | hydroxyacylglutathione hydrolase | Q16775 |
| C1510586 | Autism Spectrum Disorders | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1510586 | Autism Spectrum Disorders | ARSD | 414 | arylsulfatase D | P51689 |
| C1510586 | Autism Spectrum Disorders | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1510586 | Autism Spectrum Disorders | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1510586 | Autism Spectrum Disorders | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1510586 | Autism Spectrum Disorders | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1510586 | Autism Spectrum Disorders | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1510586 | Autism Spectrum Disorders | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1510586 | Autism Spectrum Disorders | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C1510586 | Autism Spectrum Disorders | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1510586 | Autism Spectrum Disorders | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1510586 | Autism Spectrum Disorders | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1510586 | Autism Spectrum Disorders | CNTN2 | 6900 | contactin 2 | Q02246 |
| C1510586 | Autism Spectrum Disorders | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0236018 | Aura | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0236018 | Aura | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
