Congenital muscular dystrophy Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. (Human Disease Ontology, DOID_0050557)
External Link http://purl.bioontology.org/ontology/SNOMEDCT/240059009
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Genes

7 genes associated with the Congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
ITGA7 integrin, alpha 7
LAMA2 laminin, alpha 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2