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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 |
|---|---|---|---|---|---|
| C0426970 | Spastic Quadriplegia | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0206694 | Mucoepidermoid Carcinoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0238463 | Papillary thyroid carcinoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0036341 | Schizophrenia | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0002895 | Anemia, Sickle Cell | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0013295 | Duodenal Ulcer | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0026697 | Mucolipidoses | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0004364 | Autoimmune Diseases | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0023786 | Mucopolysaccharidosis I | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0278878 | Adult Glioblastoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0026764 | Multiple Myeloma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0086431 | Hurler-Scheie Syndrome | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0268490 | Tyrosinemia, Type I | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0085078 | Lysosomal Storage Diseases | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0278876 | Adult Medulloblastoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0086795 | Pfaundler-Hurler Syndrome | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0086647 | Mucopolysaccharidosis Type IIIA | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0086648 | MPS III B | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0020255 | Hydrocephalus | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0009663 | Condylomata Acuminata | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0007102 | Malignant tumor of colon | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0026708 | Mucopolysaccharidosis V | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0027651 | Neoplasms | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0006826 | Malignant Neoplasms | IDUA | 3425 | alpha-L-iduronidase | P35475 |
