infantile muscular hypotonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. (Human Phenotype Ontology, HP_0008947)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008947
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Genes

12 genes associated with the infantile muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATRX alpha thalassemia/mental retardation syndrome X-linked
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
FGFR3 fibroblast growth factor receptor 3
GAMT guanidinoacetate N-methyltransferase
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
ITGA7 integrin, alpha 7
MECP2 methyl CpG binding protein 2
PEX13 peroxisomal biogenesis factor 13
SUOX sulfite oxidase
TRPS1 trichorhinophalangeal syndrome I