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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 |
|---|---|---|---|---|---|
| C0001206 | Acromegaly | LPL | 4023 | lipoprotein lipase | P06858 |
| C0001206 | Acromegaly | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C0001206 | Acromegaly | RENBP | 5973 | renin binding protein | P51606 |
| C0001206 | Acromegaly | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0001206 | Acromegaly | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0545044 | Acrokeratoelastoidosis of Costa | SI | 6476 | sucrase-isomaltase | P14410 |
| C0545044 | Acrokeratoelastoidosis of Costa | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0220659 | Acrodysostosis | ENO1 | 2023 | enolase 1 | P06733 |
| C0220659 | Acrodysostosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0030044 | Acrocephaly | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0030044 | Acrocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0346037 | Acral Lentiginous Malignant Melanoma | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0346037 | Acral Lentiginous Malignant Melanoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0272362 | Acquired von Willebrand's disease | CALR | 811 | calreticulin | P27797 |
| C0154301 | Acquired thrombocytopenia | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0403766 | Acquired phimosis | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0403766 | Acquired phimosis | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0403766 | Acquired phimosis | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0403766 | Acquired phimosis | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0220989 | Acquired partial lipodystrophy | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0271907 | Acquired aplastic anemia | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0271907 | Acquired aplastic anemia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0271907 | Acquired aplastic anemia | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0271907 | Acquired aplastic anemia | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0271907 | Acquired aplastic anemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
