EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
3.4.22.54 | Muscular Dystrophies, Limb-Girdle |
7720071 |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. |
causal interaction unassigned |
1 0 |
3.4.22.54 | Muscular Dystrophies |
8537379 |
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. |
therapeutic application unassigned |
1 0 |
3.4.22.54 | Muscular Dystrophies, Limb-Girdle |
8537379 |
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. |
therapeutic application unassigned |
1 0 |
3.4.22.54 | Muscular Atrophy |
8550842 |
Interleukin 6 receptor antibody inhibits muscle atrophy and modulates proteolytic systems in interleukin 6 transgenic mice. |
diagnostic usage unassigned |
2 0 |
3.4.22.54 | Muscular Dystrophies |
9027855 |
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies. |
unassigned |
0 |
3.4.22.54 | Muscular Dystrophies, Limb-Girdle |
9077514 |
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). |
unassigned |
0 |
3.4.22.54 | Sarcoglycanopathies |
9266733 |
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. |
unassigned |
0 |
3.4.22.54 | calpain-3 deficiency |
9309711 |
Calpain-3 deficiency causes a mild muscular dystrophy in childhood. |
causal interaction unassigned |
4 0 |
3.4.22.54 | Muscular Dystrophies |
9309711 |
Calpain-3 deficiency causes a mild muscular dystrophy in childhood. |
causal interaction unassigned |
4 0 |
3.4.22.54 | Muscular Dystrophies, Limb-Girdle |
9452114 |
A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A. |
unassigned |
0 |