Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 Biomarker disease BEFREE To identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs). 31653707 2019
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 Biomarker disease BEFREE We have previously employed profiling techniques to elucidate molecular patterns and demonstrated significant metabolic impairment in skeletal muscle from LAMA2-CMD patients and mouse models. 30389963 2018
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 GeneticVariation disease BEFREE Forty-one patients with CMD, either collagen 6 related disorders (COL6-RD; n = 21) or laminin α-2-related disorders (LAMA2-RD; n = 20), and 21 healthy pediatric controls underwent 2 yearly EIM exams. 28224647 2018
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 Biomarker disease BEFREE Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). 28087121 2017
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 Biomarker disease BEFREE Reactance, however, was decreased in COL6 but not LAMA2 CMD compared with controls (P < 0.001). 26179210 2016
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 Biomarker disease BEFREE Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). 25307854 2015
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 Biomarker disease BEFREE In this study, we assessed 43 CMD patients with typical white matter abnormality and laminin-α2 deficiency (complete or partial) diagnosed by immunohistochemistry to determine the clinical and molecular genetic characteristics of laminin-α2 deficient CMD. 24611677 2015
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 GeneticVariation disease BEFREE Molecular genetics revealed 2 pathogenic LAMA2 mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a LAMA2-mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively. 25663498 2015
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 GeneticVariation disease BEFREE Merosin deficient congenital muscular dystrophy (MDC1A) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2). 22952766 2012
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 GeneticVariation disease BEFREE Mutation analysis revealed two distinct mutations: a c.8005delT frameshift deletion in exon 56 of the LAMA2 (laminin-α2) gene (MDC1A) was found in the CMD patient and a new homozygous mutation c.1536+1G>T in the donor splice site of intron 12 of the CAPN3 (calpain3) gene (LGMD2A) was found in the LGMD patients. 20477750 2011
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 Biomarker disease BEFREE Complete laminin alpha2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. 12552556 2003
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 GeneticVariation disease BEFREE The laminina2-chain gene (LAMA2) encodes a basal lamina protein, laminina2, known to be deficient in one form of congenital muscular dystrophy (CMD). 10694916 1998
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 GeneticVariation disease BEFREE Deficiency of laminin alpha2 chain caused by mutations of the LAMA2 gene on chromosome 6q2 account for approximately 50% of cases of congenital muscular dystrophy (CMD) in white patients. 9674785 1998
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 Biomarker disease BEFREE An additional case of CMD had a partial deficiency of laminin alpha 2 in the skin and severe motor disability, but a normal MRI. 9309712 1997
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 GeneticVariation disease BEFREE Approximately half the cases of classical congenital muscular dystrophy (CMD) have a pronounced deficiency or absence of the laminin alpha 2 chain of laminin-2 (merosin). 9185180 1997
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 Biomarker disease BEFREE In the 'merosin-deficient' subgroup, which represents about half of the cases, more definite evidence of the involvement of the laminin alpha2-chain has recently been reported with the identification of mutations in the gene encoding the alpha2-chain of laminin 2 (LAMA2) in CMD patients. 9158149 1997
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.100 GeneticVariation disease BEFREE Merosin-deficient congenital muscular dystrophy (CMD) is caused by mutations in the laminin alpha 2 chain gene. 9027848 1996