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
Displaying entries 46001 - 46025 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▼
C0026848 Myopathy GAA 2548 glucosidase alpha, acid P10253
C3539168 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A GAA 2548 glucosidase alpha, acid P10253
C0017919 Glycogen Storage Disease GAA 2548 glucosidase alpha, acid P10253
C1968741 Glycogen Storage Disease IIIC GAA 2548 glucosidase alpha, acid P10253
C0007194 Hypertrophic Cardiomyopathy GAA 2548 glucosidase alpha, acid P10253
C0268237 Cytochrome-c Oxidase Deficiency GAA 2548 glucosidase alpha, acid P10253
C0017923 Glycogen Storage Disease Type IV GAA 2548 glucosidase alpha, acid P10253
C0002986 Fabry Disease GAA 2548 glucosidase alpha, acid P10253
C0162670 Mitochondrial Myopathies GAA 2548 glucosidase alpha, acid P10253
C0085078 Lysosomal Storage Diseases GAA 2548 glucosidase alpha, acid P10253
C0878544 Cardiomyopathies GAA 2548 glucosidase alpha, acid P10253
C1285162 Degenerative disorder GAA 2548 glucosidase alpha, acid P10253
C0086445 Idiopathic Membranous Glomerulonephritis GAA 2548 glucosidase alpha, acid P10253
C0021051 Immunologic Deficiency Syndromes GAA 2548 glucosidase alpha, acid P10253
C0027651 Neoplasms GAA 2548 glucosidase alpha, acid P10253
C0027868 Neuromuscular Diseases GAA 2548 glucosidase alpha, acid P10253
C0016522 Foramen Ovale, Patent GAA 2548 glucosidase alpha, acid P10253
C0238461 Anaplastic thyroid carcinoma GAA 2548 glucosidase alpha, acid P10253
C1856689 FRIEDREICH ATAXIA 1 GAA 2548 glucosidase alpha, acid P10253
C0017665 Membranous glomerulonephritis GAA 2548 glucosidase alpha, acid P10253
C0004135 Ataxia Telangiectasia GAA 2548 glucosidase alpha, acid P10253
C0282160 Aplasia Cutis Congenita GAA 2548 glucosidase alpha, acid P10253
C1384666 hearing impairment GAA 2548 glucosidase alpha, acid P10253
C0007758 Cerebellar Ataxia GAA 2548 glucosidase alpha, acid P10253
C4551472 Hypertrophic obstructive cardiomyopathy GAA 2548 glucosidase alpha, acid P10253

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Last updated: August 19, 2024