Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.340 Biomarker MGD

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: 55624
Gene Symbol: POMGNT1
POMGNT1
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: 3679
Gene Symbol: ITGA7
ITGA7
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD α6β1 and α7β1 integrins are required in Schwann cells to sort axons. 24227711

2013
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD A phenotype survey of 36 mutant mouse strains with gene-targeted defects in glycosyltransferases or glycan-binding proteins. 23118208

2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. 22090424

2012
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD Dystroglycan organizes axon guidance cue localization and axonal pathfinding. 23217742

2012
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: 2218
Gene Symbol: FKTN
FKTN
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. 19017726

2009
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. 16371353

2006
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. 16111892

2005
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice. 12588796

2003
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD Absence of integrin alpha 7 causes a novel form of muscular dystrophy. 9354797

1997
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.200 Biomarker MGD