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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 |
|---|---|---|---|---|---|
| C0009324 | Ulcerative Colitis | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0009324 | Ulcerative Colitis | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0151970 | Ulcer of esophagus | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C1848638 | USHER SYNDROME, TYPE IB (disorder) | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1848638 | USHER SYNDROME, TYPE IB (disorder) | STS | 412 | steroid sulfatase | P08842 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0268490 | Tyrosinemia, Type I | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0268490 | Tyrosinemia, Type I | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0268490 | Tyrosinemia, Type I | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0041466 | Typhoid Fever | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0041466 | Typhoid Fever | CD38 | 952 | CD38 molecule | P28907 |
| 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 |
| C0268226 | Type I Mucolipidosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
