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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 |
|---|---|---|---|---|---|
| C3501848 | Nephrosis, congenital | TREH | 11181 | trehalase | O43280 |
| C3501848 | Nephrosis, congenital | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3501848 | Nephrosis, congenital | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C3501848 | Nephrosis, congenital | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C3501848 | Nephrosis, congenital | GPC3 | 2719 | glypican 3 | P51654 |
| C3501848 | Nephrosis, congenital | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C3501848 | Nephrosis, congenital | SDC2 | 6383 | syndecan 2 | P34741 |
| 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 |
| C3536741 | Discordant ventriculoarterial connection | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3536797 | Ichthyosis Congenita II | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | ENO2 | 2026 | enolase 2 | P09104 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
