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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 |
|---|---|---|---|---|---|
| C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | KL | 9365 | klotho | Q9UEF7 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | DCN | 1634 | decorin | P07585 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | LGALS3 | 3958 | galectin 3 | P17931 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | UMOD | 7369 | uromodulin | P07911 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | SEMA7A | 8482 | semaphorin 7A (John Milton Hagen blood group) | O75326 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | HAGH | 3029 | hydroxyacylglutathione hydrolase | Q16775 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
