EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
2.7.11.19 | Glycogen Storage Disease |
18950708 |
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase. |
causal interaction unassigned |
4 0 |
2.7.11.19 | Muscular Diseases |
6820425 |
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. |
causal interaction unassigned |
4 0 |
2.7.11.19 | phosphorylase kinase deficiency |
6820425 |
A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. |
causal interaction unassigned |
4 0 |
2.7.11.19 | Fanconi Syndrome |
10987651 |
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. |
causal interaction unassigned |
1 0 |
2.7.11.19 | Glycogen Storage Disease |
10987651 |
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. |
causal interaction unassigned |
1 0 |
2.7.11.19 | Glycogen Storage Disease |
6424667 |
A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase. |
causal interaction unassigned |
4 0 |
2.7.11.19 | Muscle Cramp |
33799212 |
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency. |
causal interaction unassigned |
4 0 |
2.7.11.19 | Muscle Weakness |
33799212 |
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency. |
causal interaction unassigned |
4 0 |
2.7.11.19 | Muscular Diseases |
33799212 |
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency. |
causal interaction unassigned |
4 0 |
2.7.11.19 | Myalgia |
33799212 |
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency. |
causal interaction unassigned |
4 0 |