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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 |
|---|---|---|---|---|---|
| C0392525 | Nephrolithiasis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0392525 | Nephrolithiasis | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0392525 | Nephrolithiasis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0392525 | Nephrolithiasis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0392525 | Nephrolithiasis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0392525 | Nephrolithiasis | SI | 6476 | sucrase-isomaltase | P14410 |
| C0392525 | Nephrolithiasis | UMOD | 7369 | uromodulin | P07911 |
| C0392525 | Nephrolithiasis | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0392525 | Nephrolithiasis | CD14 | 929 | CD14 molecule | P08571 |
| C0392525 | Nephrolithiasis | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0392525 | Nephrolithiasis | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0392525 | Nephrolithiasis | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0392525 | Nephrolithiasis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0392525 | Nephrolithiasis | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0392525 | Nephrolithiasis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0392525 | Nephrolithiasis | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0392525 | Nephrolithiasis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0392525 | Nephrolithiasis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0392525 | Nephrolithiasis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0392525 | Nephrolithiasis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0392525 | Nephrolithiasis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0392525 | Nephrolithiasis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0392525 | Nephrolithiasis | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0392525 | Nephrolithiasis | DGKD | 8527 | diacylglycerol kinase delta | Q16760 |
| C0392514 | Hereditary hemochromatosis | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
