severe muscular hypotonia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. (Human Phenotype Ontology, HP_0006829)
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24 genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BMP4 bone morphogenetic protein 4
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
FKRP fukutin related protein
GCH1 GTP cyclohydrolase 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
LARGE like-glycosyltransferase
LMNA lamin A/C
MPLKIP M-phase specific PLK1 interacting protein
MTM1 myotubularin 1
PNPT1 polyribonucleotide nucleotidyltransferase 1
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SPEG SPEG complex locus
TBC1D24 TBC1 domain family, member 24
UBA1 ubiquitin-like modifier activating enzyme 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
ZDHHC15 zinc finger, DHHC-type containing 15