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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 |
|---|---|---|---|---|---|
| C0026010 | Microphthalmos | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0026010 | Microphthalmos | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0026010 | Microphthalmos | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0026010 | Microphthalmos | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0026010 | Microphthalmos | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0026010 | Microphthalmos | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0026010 | Microphthalmos | CD38 | 952 | CD38 molecule | P28907 |
| C0026010 | Microphthalmos | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0026010 | Microphthalmos | FH | 2271 | fumarate hydratase | P07954 |
| C0026010 | Microphthalmos | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0026010 | Microphthalmos | DSEL | 92126 | dermatan sulfate epimerase like | Q8IZU8 |
| C0026010 | Microphthalmos | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0026010 | Microphthalmos | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0026010 | Microphthalmos | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0026010 | Microphthalmos | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0026010 | Microphthalmos | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0026010 | Microphthalmos | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C0026010 | Microphthalmos | ARSD | 414 | arylsulfatase D | P51689 |
| C0026010 | Microphthalmos | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
| C0026010 | Microphthalmos | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0026010 | Microphthalmos | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0026010 | Microphthalmos | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C4551977 | Microphthalmos, Autosomal Recessive | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C0085407 | Microsporidiosis | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0740391 | Middle Cerebral Artery Occlusion | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
