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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 |
|---|---|---|---|---|---|
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0040963 | Tricuspid Valve Stenosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0040963 | Tricuspid Valve Stenosis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0040963 | Tricuspid Valve Stenosis | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0040962 | Tricuspid Valve Prolapse | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0040961 | Tricuspid Valve Insufficiency | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0040961 | Tricuspid Valve Insufficiency | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0040961 | Tricuspid Valve Insufficiency | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0040961 | Tricuspid Valve Insufficiency | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0040961 | Tricuspid Valve Insufficiency | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0040961 | Tricuspid Valve Insufficiency | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0243002 | Tricuspid Atresia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0243002 | Tricuspid Atresia | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C1955934 | Trichothiodystrophy Syndromes | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1955934 | Trichothiodystrophy Syndromes | CAT | 847 | catalase | P04040 |
| C0040921 | Trichomonas Infections | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C1857276 | Trichohepatoenteric Syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
