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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 |
|---|---|---|---|---|---|
| C0086543 | Cataract | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0086543 | Cataract | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0086543 | Cataract | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0086543 | Cataract | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0086543 | Cataract | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0086543 | Cataract | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0086543 | Cataract | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0086543 | Cataract | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1859317 | Cataract and cardiomyopathy | CS | 1431 | citrate synthase | O75390 |
| C1859317 | Cataract and cardiomyopathy | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0011876 | Cataract due to diabetes mellitus | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0011876 | Cataract due to diabetes mellitus | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0152259 | Cataract secondary to ocular disorder | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0152259 | Cataract secondary to ocular disorder | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C1833118 | Cataract, Pulverulent | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C4049005 | Cataract, total congenital with posterior sutural opacities in Heterozygotes | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0007462 | Causalgia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2919945 | Cavernous Hemangioma of Brain | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C2919945 | Cavernous Hemangioma of Brain | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C2919945 | Cavernous Hemangioma of Brain | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C2919945 | Cavernous Hemangioma of Brain | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2919945 | Cavernous Hemangioma of Brain | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C2919945 | Cavernous Hemangioma of Brain | STS | 412 | steroid sulfatase | P08842 |
| C2919945 | Cavernous Hemangioma of Brain | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C2919945 | Cavernous Hemangioma of Brain | GLO1 | 2739 | glyoxalase I | Q04760 |
