congenital muscular dystrophy Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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)
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Genes

22 genes involed in the disease congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
FKRP fukutin related protein
FKTN fukutin
GMPPB GDP-mannose pyrophosphorylase B
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LMNA lamin A/C
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
TMEM5 transmembrane protein 5