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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 |
|---|---|---|---|---|---|
| C0751075 | Cancer of Digestive System | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0206307 | Canavan Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0011989 | Camurati-Engelmann Syndrome | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0011989 | Camurati-Engelmann Syndrome | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0011989 | Camurati-Engelmann Syndrome | LGALS1 | 3956 | galectin 1 | P09382 |
| C0011989 | Camurati-Engelmann Syndrome | TBXAS1 | 6916 | thromboxane A synthase 1 | P24557 |
| C0156257 | Calculus of kidney and ureter | DGKH | 160851 | diacylglycerol kinase eta | Q86XP1 |
| C0553730 | Calcium pyrophosphate deposition disease | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0553730 | Calcium pyrophosphate deposition disease | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0553730 | Calcium pyrophosphate deposition disease | KL | 9365 | klotho | Q9UEF7 |
| C0553730 | Calcium pyrophosphate deposition disease | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0553730 | Calcium pyrophosphate deposition disease | ANXA5 | 308 | annexin A5 | P08758 |
| C0856830 | Calcium pyrophosphate arthropathy | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0006705 | Calcium Metabolism Disorders | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0006666 | Calciphylaxis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0263627 | Calcinosis universalis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0263627 | Calcinosis universalis | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0006663 | Calcinosis | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0006663 | Calcinosis | KL | 9365 | klotho | Q9UEF7 |
| C0006663 | Calcinosis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0264324 | Calcification of trachea | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1968949 | Cakut | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1968949 | Cakut | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1968949 | Cakut | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1968949 | Cakut | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
