Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		0.100 Biomarker disease HPO
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.100 Biomarker disease HPO
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		0.100 Biomarker disease HPO
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.100 Biomarker disease HPO
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1 		0.100 Biomarker disease HPO
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		0.400 Biomarker disease GENOMICS_ENGLAND 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 30055862 2018
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.200 GeneticVariation disease BEFREE Congenital muscular dystrophy type 1C and limb girdle muscular dystrophy type 2I are allelic, both being due to mutations in the gene-encoding fukutin-related protein (FKRP). 12925572 2003
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		0.400 Biomarker disease BEFREE Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. 15833426 2005
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		0.400 GeneticVariation disease BEFREE Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene. 16386759 2006
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.500 GeneticVariation disease BEFREE Congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. 18700894 2008
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		0.150 GeneticVariation disease BEFREE Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. 21248746 2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.010 Biomarker disease BEFREE Congenital Muscular Dystrophy type 1D (CMD1D) is characterized by an abnormal glycosylation of α-DG (α-dystroglycan) and is associated to the central nervous system (CNS) abnormalities such as cognitive impairment. 27915985 2017
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		0.400 Biomarker disease BEFREE Congenital Muscular Dystrophy type 1D (CMD1D) is characterized by an abnormal glycosylation of α-DG (α-dystroglycan) and is associated to the central nervous system (CNS) abnormalities such as cognitive impairment. 27915985 2017
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.500 GeneticVariation disease BEFREE Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ability to polymerize within the muscle fiber BM. 28218619 2017
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.500 Biomarker disease BEFREE Congenital muscular dystrophy type 1A (MDC1A) is a devastating form of muscular dystrophy caused by laminin α2 chain-deficiency. 28281577 2017
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.500 Biomarker disease BEFREE Congenital muscular dystrophy type 1A (MDC1A) is a severe muscle disorder caused by mutations in the LAMA2 gene. 28367954 2017
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.500 Biomarker disease BEFREE Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. 30055037 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.500 Biomarker disease BEFREE Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe muscle disorder with complex underlying pathogenesis. 30389963 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.500 GeneticVariation disease BEFREE Congenital muscular dystrophy with laminin-α2 deficiency, also known as MDC1A, displays an extensive phenotypic and genetic heterogeneity. 30900984 2020
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.200 GeneticVariation disease BEFREE FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965 2003
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.500 GeneticVariation disease BEFREE LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. 15452315 2004
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.200 GeneticVariation disease BEFREE Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 15574464 2005
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.500 GeneticVariation disease BEFREE LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 16216942 2005