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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 |
|---|---|---|---|---|---|
| C0521694 | Atrophic retina | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0521694 | Atrophic retina | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0521694 | Atrophic retina | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0521694 | Atrophic retina | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0521694 | Atrophic retina | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0521694 | Atrophic retina | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0521694 | Atrophic retina | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0521659 | Motor Neuron Disease, Upper | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0521648 | Neonatal respiratory failure | SFTPC | 6440 | surfactant protein C | P11686 |
| C0521619 | Obstruction of pelviureteric junction | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0520966 | Abnormal coordination | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0520966 | Abnormal coordination | PRNP | 5621 | prion protein | P04156 |
| C0520966 | Abnormal coordination | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0520966 | Abnormal coordination | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0520966 | Abnormal coordination | PRNP | 5621 | prion protein | F7VJQ1 |
| C0520947 | Clumsiness - motor delay | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0520947 | Clumsiness - motor delay | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0520947 | Clumsiness - motor delay | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0520947 | Clumsiness - motor delay | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0520947 | Clumsiness - motor delay | FKTN | 2218 | fukutin | O75072 |
| C0520947 | Clumsiness - motor delay | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0520947 | Clumsiness - motor delay | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0520947 | Clumsiness - motor delay | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0520947 | Clumsiness - motor delay | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0520947 | Clumsiness - motor delay | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
