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 ▲ |
---|---|---|---|---|---|
C0024748 | alpha-Mannosidosis | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C1257960 | Mannosidase Deficiency Diseases | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0026650 | Movement Disorders | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0019294 | Hernia, Inguinal | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0038016 | Spondylolisthesis | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0017921 | Glycogen storage disease type II | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0085078 | Lysosomal Storage Diseases | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0020555 | Hypertrichosis | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0035304 | Retinal Degeneration | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C3714756 | Intellectual Disability | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0017661 | IGA Glomerulonephritis | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0376480 | Gingival Overgrowth | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0235946 | Cerebral atrophy | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C1855114 | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0028738 | Nystagmus | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0242383 | Age related macular degeneration | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0018784 | Sensorineural Hearing Loss (disorder) | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0086795 | Pfaundler-Hurler Syndrome | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C2717836 | Steroid Sulfatase Deficiency Disease | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
C0035372 | Rett Syndrome | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
C4551686 | Malignant neoplasm of soft tissue | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
C1261473 | Sarcoma | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
C0027651 | Neoplasms | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
C0024623 | Malignant neoplasm of stomach | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
C0079588 | Ichthyosis, X-Linked | FBP2 | 8789 | fructose-bisphosphatase 2 | O00757 |
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Last updated: August 19, 2024