EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
2.7.7.40 | Walker-Warburg Syndrome |
33977792 |
Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations. |
causal interaction unassigned |
3 0 |
2.7.7.40 | Muscular Diseases |
31375477 |
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy. |
causal interaction diagnostic usage therapeutic application unassigned |
1 3 3 0 |
2.7.7.40 | Muscular Dystrophies |
31375477 |
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy. |
causal interaction diagnostic usage therapeutic application unassigned |
1 3 3 0 |
2.7.7.40 | Muscular Dystrophies, Limb-Girdle |
31375477 |
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy. |
causal interaction diagnostic usage therapeutic application unassigned |
1 3 3 0 |
2.7.7.40 | Walker-Warburg Syndrome |
31375477 |
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy. |
causal interaction diagnostic usage therapeutic application unassigned |
1 3 3 0 |
2.7.7.40 | Muscular Dystrophies |
34307571 |
Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report. |
causal interaction unassigned |
1 0 |