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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 ▼ |
|---|---|---|---|---|---|
| C0036439 | Scoliosis, unspecified | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0003028 | Anhidrosis | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0238461 | Anaplastic thyroid carcinoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0019572 | Hirsutism | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0009402 | Colorectal Carcinoma | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0009404 | Colorectal Neoplasms | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0152025 | Polyneuropathy | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0221356 | Brachycephaly | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| 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 |
| C0013384 | Dyskinetic syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0017205 | Gaucher Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1961835 | Gaucher Disease, Type 1 | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0025958 | Microcephaly | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0752347 | Lewy Body Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0079744 | Diffuse Large B-Cell Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0030567 | Parkinson Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1332201 | Adult Diffuse Large B-Cell Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0268251 | Gaucher Disease, Type 3 (disorder) | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0009806 | Constipation | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0524851 | Neurodegenerative Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0085078 | Lysosomal Storage Diseases | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020224 | Polyhydramnios | GBA | 2629 | glucosylceramidase beta | P04062 |
