FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Congenital myopathy (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.200 Biomarker group MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834 2016
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.200 Biomarker group MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713 2010