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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 |
|---|---|---|---|---|---|
| C0020757 | Ichthyoses | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0020757 | Ichthyoses | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0020725 | Type II Mucolipidosis | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0020725 | Type II Mucolipidosis | GUSB | 2990 | glucuronidase beta | P08236 |
| C0020725 | Type II Mucolipidosis | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0020725 | Type II Mucolipidosis | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0020725 | Type II Mucolipidosis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0020725 | Type II Mucolipidosis | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0020725 | Type II Mucolipidosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0020725 | Type II Mucolipidosis | CALR | 811 | calreticulin | P27797 |
| C0020725 | Type II Mucolipidosis | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0020725 | Type II Mucolipidosis | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0020725 | Type II Mucolipidosis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0020678 | Hypotrichosis | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0020678 | Hypotrichosis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0020678 | Hypotrichosis | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C0020678 | Hypotrichosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020678 | Hypotrichosis | LSS | 4047 | lanosterol synthase | P48449 |
| C0020676 | Hypothyroidism | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0020676 | Hypothyroidism | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0020676 | Hypothyroidism | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0020676 | Hypothyroidism | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0020676 | Hypothyroidism | ARSA | 410 | arylsulfatase A | P15289 |
| C0020676 | Hypothyroidism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0020676 | Hypothyroidism | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
