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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 |
|---|---|---|---|---|---|
| C0015397 | Disorder of eye | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0015397 | Disorder of eye | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0015397 | Disorder of eye | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0015397 | Disorder of eye | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0015397 | Disorder of eye | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0015397 | Disorder of eye | DGKG | 1608 | diacylglycerol kinase gamma | P49619 |
| C0015397 | Disorder of eye | PLA2G5 | 5322 | phospholipase A2 group V | P39877 |
| C0015397 | Disorder of eye | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0015397 | Disorder of eye | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0015397 | Disorder of eye | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0026265 | Diseases of mitral valve | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0026265 | Diseases of mitral valve | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0152097 | Disease of diaphragm | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0155765 | Disease of capillaries | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0155765 | Disease of capillaries | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0155765 | Disease of capillaries | SELE | 6401 | selectin E | P16581 |
| C0155765 | Disease of capillaries | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0155765 | Disease of capillaries | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0155765 | Disease of capillaries | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C3536741 | Discordant ventriculoarterial connection | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0012624 | Discitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0699848 | Disaccharidase deficiency | SI | 6476 | sucrase-isomaltase | P14410 |
| C0265004 | Dilatation of aorta | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0265004 | Dilatation of aorta | VCAN | 1462 | versican | P13611 |
| C0012242 | Digestive System Disorders | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
