hypotonia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. (Human Phenotype Ontology, HP_0001252)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004144
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Genes

17 gene mutations causing the hypotonia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BTD biotinidase
CHAT choline O-acetyltransferase
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
NDN necdin, melanoma antigen (MAGE) family member
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
OLIG2 oligodendrocyte lineage transcription factor 2
PEX13 peroxisomal biogenesis factor 13
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SOD2 superoxide dismutase 2, mitochondrial
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
ZIC1 Zic family member 1
Funding