Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.960 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.950 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker MGD Mouse models of human ocular disease for translational research. 28859131

2017
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker MGD The mutant mouse represents a valuable model to further elucidate the functions of FKRP and develop therapies for FKRP-related muscular dystrophies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C2751052
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C4015184
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 		0.200 Biomarker MGD Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 26306834

2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.200 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		0.200 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.200 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.200 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C2751052
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		0.200 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		0.200 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 		0.200 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.200 Biomarker MGD Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. 20675713

2010