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 |
---|---|---|---|---|---|
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 |
C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
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 |
C0032460 | Polycystic Ovary Syndrome | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
C0032460 | Polycystic Ovary Syndrome | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
C0032460 | Polycystic Ovary Syndrome | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
C0032460 | Polycystic Ovary Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
C0032460 | Polycystic Ovary Syndrome | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
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Last updated: August 19, 2024