generalized hypotonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Generalized muscular hypotonia (abnormally low muscle tone). (Human Phenotype Ontology, HP_0001290)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001290
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Genes

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

Symbol Name
B3GAT3 beta-1,3-glucuronyltransferase 3
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CHAT choline O-acetyltransferase
DHCR7 7-dehydrocholesterol reductase
KANSL1 KAT8 regulatory NSL complex subunit 1
KIF7 kinesin family member 7
MED12 mediator complex subunit 12
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
NDN necdin, melanoma antigen (MAGE) family member
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
PDHB pyruvate dehydrogenase (lipoamide) beta
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
RAI1 retinoic acid induced 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SNRPN small nuclear ribonucleoprotein polypeptide N
TRIM2 tripartite motif containing 2