Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
0.510 GeneticVariation disease BEFREE Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. 27816943 2017
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
0.510 Biomarker disease GENOMICS_ENGLAND Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. 27816943 2017
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
0.510 GermlineCausalMutation disease ORPHANET Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. 27816943 2017