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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 | FCN2 | 2220 | ficolin 2 | Q15485 |
| C3714756 | Intellectual Disability | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C3714756 | Intellectual Disability | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C3714756 | Intellectual Disability | GLDC | 2731 | glycine decarboxylase | P23378 |
| C3714756 | Intellectual Disability | AMT | 275 | aminomethyltransferase | P48728 |
| C3714756 | Intellectual Disability | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C3714756 | Intellectual Disability | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C3714756 | Intellectual Disability | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C3714756 | Intellectual Disability | LSS | 4047 | lanosterol synthase | P48449 |
| C3714756 | Intellectual Disability | ARSD | 414 | arylsulfatase D | P51689 |
| C3714756 | Intellectual Disability | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C3714756 | Intellectual Disability | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C3714756 | Intellectual Disability | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C3714756 | Intellectual Disability | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C3714756 | Intellectual Disability | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C3714756 | Intellectual Disability | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C3714756 | Intellectual Disability | PAFAH1B3 | 5050 | platelet activating factor acetylhydrolase 1b catalytic subunit 3 | Q15102 |
| C3714756 | Intellectual Disability | HSD17B12 | 51144 | hydroxysteroid 17-beta dehydrogenase 12 | Q53GQ0 |
| C3714756 | Intellectual Disability | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3714756 | Intellectual Disability | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3714756 | Intellectual Disability | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C3714756 | Intellectual Disability | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C3714756 | Intellectual Disability | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C3714756 | Intellectual Disability | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3714756 | Intellectual Disability | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
