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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 |
|---|---|---|---|---|---|
| C0268731 | Renal glomerular disease | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0268731 | Renal glomerular disease | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0268731 | Renal glomerular disease | UMOD | 7369 | uromodulin | P07911 |
| C0268731 | Renal glomerular disease | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0268731 | Renal glomerular disease | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0268731 | Renal glomerular disease | GPC5 | 2262 | glypican 5 | P78333 |
| C0268731 | Renal glomerular disease | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0268731 | Renal glomerular disease | PLA2R1 | 22925 | phospholipase A2 receptor 1 | Q13018 |
| C0268731 | Renal glomerular disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0403553 | Renal dysplasia and retinal aplasia (disorder) | UMOD | 7369 | uromodulin | P07911 |
| C0403553 | Renal dysplasia and retinal aplasia (disorder) | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C3536714 | Renal dysplasia | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3536714 | Renal dysplasia | FKTN | 2218 | fukutin | O75072 |
| C3536714 | Renal dysplasia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3536714 | Renal dysplasia | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3536714 | Renal dysplasia | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3536714 | Renal dysplasia | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C3536714 | Renal dysplasia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C3536714 | Renal dysplasia | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C3536714 | Renal dysplasia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C3536714 | Renal dysplasia | GPC3 | 2719 | glypican 3 | P51654 |
| C1408247 | Renal disease (acute) NOS | KHK | 3795 | ketohexokinase | P50053 |
| C3887499 | Renal cyst | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C3887499 | Renal cyst | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C3887499 | Renal cyst | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
