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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 |
|---|---|---|---|---|---|
| C0554101 | Villous atrophy | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0266999 | Vesicular Stomatitis | PSAP | 5660 | prosaposin | P07602 |
| C0266999 | Vesicular Stomatitis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0266999 | Vesicular Stomatitis | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0266999 | Vesicular Stomatitis | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C0266999 | Vesicular Stomatitis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0266999 | Vesicular Stomatitis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C4551858 | Vesicoureteral Reflux 1 | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C4551858 | Vesicoureteral Reflux 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4551858 | Vesicoureteral Reflux 1 | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C4551858 | Vesicoureteral Reflux 1 | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C0042580 | Vesico-Ureteral Reflux | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0042580 | Vesico-Ureteral Reflux | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0042580 | Vesico-Ureteral Reflux | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0042580 | Vesico-Ureteral Reflux | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0042580 | Vesico-Ureteral Reflux | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0042580 | Vesico-Ureteral Reflux | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0042580 | Vesico-Ureteral Reflux | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0042580 | Vesico-Ureteral Reflux | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0042580 | Vesico-Ureteral Reflux | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C0042580 | Vesico-Ureteral Reflux | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
