Muscular Dystrophy, Duchenne Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (Human Disease Ontology, DOID_11723)
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Genes

8 genes associated with the Muscular Dystrophy, Duchenne phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
DMD dystrophin
FKTN fukutin
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
LTBP4 latent transforming growth factor beta binding protein 4
SPP1 secreted phosphoprotein 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)