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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 ▲ |
|---|---|---|---|---|---|
| C3203102 | Idiopathic pulmonary arterial hypertension | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0029464 | Osteosclerosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1276035 | Pena-Shokeir syndrome type I | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0018790 | Cardiac Arrest | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020255 | Hydrocephalus | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0030312 | Pancytopenia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0016788 | Fucosidase Deficiency Disease | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C1527336 | Sjogren's Syndrome | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0036572 | Seizures | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0086795 | Pfaundler-Hurler Syndrome | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0006142 | Malignant neoplasm of breast | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0040136 | Thyroid Neoplasm | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0006826 | Malignant Neoplasms | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0020676 | Hypothyroidism | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C1306459 | Primary malignant neoplasm | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C1384666 | hearing impairment | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0162819 | Skin Diseases, Vascular | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0235946 | Cerebral atrophy | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0027533 | Neck Neoplasms | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0023787 | Lipodystrophy | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0019693 | HIV Infections | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0027651 | Neoplasms | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C3714756 | Intellectual Disability | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0004364 | Autoimmune Diseases | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
