spinal rigidity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. (Human Phenotype Ontology, HP_0003306)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003306
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Genes

17 genes associated with the spinal rigidity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ACVR1 activin A receptor, type I
BAG3 BCL2-associated athanogene 3
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
FHL1 four and a half LIM domains 1
FKTN fukutin
HSPG2 heparan sulfate proteoglycan 2
LMNA lamin A/C
MGME1 mitochondrial genome maintenance exonuclease 1
NEB nebulin
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PTRF polymerase I and transcript release factor
SEPN1 selenoprotein N, 1
TNPO3 transportin 3