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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 |
|---|---|---|---|---|---|
| C2020284 | Stickler syndrome, type 1 | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C2020284 | Stickler syndrome, type 1 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0085292 | Stiff-Person Syndrome | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0085292 | Stiff-Person Syndrome | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0085292 | Stiff-Person Syndrome | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0085292 | Stiff-Person Syndrome | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0085292 | Stiff-Person Syndrome | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0085292 | Stiff-Person Syndrome | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C1859126 | Stippled epiphyses | GUSB | 2990 | glucuronidase beta | P08236 |
| C1859126 | Stippled epiphyses | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C1859126 | Stippled epiphyses | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C1859126 | Stippled epiphyses | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1859126 | Stippled epiphyses | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0699791 | Stomach Carcinoma | GALNT5 | 11227 | polypeptide N-acetylgalactosaminyltransferase 5 | Q7Z7M9 |
| C0699791 | Stomach Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0699791 | Stomach Carcinoma | FKTN | 2218 | fukutin | O75072 |
| C0699791 | Stomach Carcinoma | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0699791 | Stomach Carcinoma | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0699791 | Stomach Carcinoma | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0699791 | Stomach Carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0699791 | Stomach Carcinoma | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0699791 | Stomach Carcinoma | FUT6 | 2528 | fucosyltransferase 6 | P51993 |
| C0699791 | Stomach Carcinoma | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0699791 | Stomach Carcinoma | FUT5 | 2527 | fucosyltransferase 5 | Q11128 |
| C0699791 | Stomach Carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
