Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
0.900 Biomarker MGD Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. 19017726

2009

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
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: 55624
Gene Symbol: POMGNT1
POMGNT1
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: 55624
Gene Symbol: POMGNT1
POMGNT1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
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: 11041
Gene Symbol: B4GAT1
B4GAT1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
0.200 Biomarker MGD Dystroglycan organizes axon guidance cue localization and axonal pathfinding. 23217742

2012

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
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: 9215
Gene Symbol: LARGE1
LARGE1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
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: 10585
Gene Symbol: POMT1
POMT1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
0.200 Biomarker MGD