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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 |
|---|---|---|---|---|---|
| C1565489 | Renal Insufficiency | ME1 | 4199 | malic enzyme 1 | P48163 |
| C1565489 | Renal Insufficiency | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1565489 | Renal Insufficiency | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C1565489 | Renal Insufficiency | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1565489 | Renal Insufficiency | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1565489 | Renal Insufficiency | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1565489 | Renal Insufficiency | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1565489 | Renal Insufficiency | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1565662 | Acute Kidney Insufficiency | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C1565662 | Acute Kidney Insufficiency | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1565662 | Acute Kidney Insufficiency | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1565662 | Acute Kidney Insufficiency | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C1565662 | Acute Kidney Insufficiency | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1565662 | Acute Kidney Insufficiency | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C1565662 | Acute Kidney Insufficiency | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C1565662 | Acute Kidney Insufficiency | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C1565662 | Acute Kidney Insufficiency | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C1565887 | Newborn physiological jaundice | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1565951 | Sphenoid Wing Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1567435 | Polycystic Kidney - body part | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C1567435 | Polycystic Kidney - body part | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1567435 | Polycystic Kidney - body part | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1567435 | Polycystic Kidney - body part | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1567435 | Polycystic Kidney - body part | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1567741 | Alport Syndrome | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
