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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 |
|---|---|---|---|---|---|
| C0022680 | Polycystic Kidney Diseases | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0022680 | Polycystic Kidney Diseases | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0022680 | Polycystic Kidney Diseases | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0022680 | Polycystic Kidney Diseases | CALR | 811 | calreticulin | P27797 |
| C0022680 | Polycystic Kidney Diseases | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0022680 | Polycystic Kidney Diseases | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0022680 | Polycystic Kidney Diseases | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| C0022680 | Polycystic Kidney Diseases | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0022680 | Polycystic Kidney Diseases | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0022680 | Polycystic Kidney Diseases | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0022680 | Polycystic Kidney Diseases | SELE | 6401 | selectin E | P16581 |
| C0022680 | Polycystic Kidney Diseases | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022680 | Polycystic Kidney Diseases | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0022680 | Polycystic Kidney Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0022680 | Polycystic Kidney Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0022680 | Polycystic Kidney Diseases | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0022680 | Polycystic Kidney Diseases | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0022680 | Polycystic Kidney Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| 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 |
