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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 |
|---|---|---|---|---|---|
| C0027066 | Myoclonus | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0027066 | Myoclonus | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0027066 | Myoclonus | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0027066 | Myoclonus | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0027066 | Myoclonus | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0027066 | Myoclonus | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0027066 | Myoclonus | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0027066 | Myoclonus | AMT | 275 | aminomethyltransferase | P48728 |
| C0027066 | Myoclonus | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0027066 | Myoclonus | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0027066 | Myoclonus | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0027066 | Myoclonus | PRNP | 5621 | prion protein | F7VJQ1 |
| C0027066 | Myoclonus | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0027066 | Myoclonus | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0027070 | Myoepithelioma | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0027070 | Myoepithelioma | SDC1 | 6382 | syndecan 1 | P18827 |
| C0027073 | Myofascial Pain Syndromes | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2678065 | Myofibrillar Myopathy | CS | 1431 | citrate synthase | O75390 |
| C2678065 | Myofibrillar Myopathy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0027080 | Myoglobinuria | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0027080 | Myoglobinuria | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0027080 | Myoglobinuria | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0027080 | Myoglobinuria | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0027080 | Myoglobinuria | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0027080 | Myoglobinuria | LPIN1 | 23175 | lipin 1 | Q14693 |
