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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 |
|---|---|---|---|---|---|
| C0010038 | Corneal Opacity | GLA | 2717 | galactosidase alpha | P06280 |
| C0010038 | Corneal Opacity | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0010038 | Corneal Opacity | GUSB | 2990 | glucuronidase beta | P08236 |
| C0010038 | Corneal Opacity | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0010038 | Corneal Opacity | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0010038 | Corneal Opacity | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0010038 | Corneal Opacity | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0010038 | Corneal Opacity | CTSA | 5476 | cathepsin A | P10619 |
| C0010038 | Corneal Opacity | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0010038 | Corneal Opacity | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0010038 | Corneal Opacity | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0010038 | Corneal Opacity | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0010038 | Corneal Opacity | STS | 412 | steroid sulfatase | P08842 |
| C0010038 | Corneal Opacity | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0010038 | Corneal Opacity | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0010038 | Corneal Opacity | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0010038 | Corneal Opacity | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0010038 | Corneal Opacity | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0010038 | Corneal Opacity | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0010038 | Corneal Opacity | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010036 | Corneal dystrophy | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0010036 | Corneal dystrophy | GLA | 2717 | galactosidase alpha | P06280 |
| C0010036 | Corneal dystrophy | CTSA | 5476 | cathepsin A | P10619 |
| C0010036 | Corneal dystrophy | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0010036 | Corneal dystrophy | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
