aplasia/hypoplasia involving the skeletal musculature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the musculature. (Human Phenotype Ontology, HP_0001460)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001460
Similar Terms
Downloads & Tools


14 genes associated with the aplasia/hypoplasia involving the skeletal musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COLEC11 collectin sub-family member 11
FBN2 fibrillin 2
GLE1 GLE1 RNA export mediator
LMX1B LIM homeobox transcription factor 1, beta
NSDHL NAD(P) dependent steroid dehydrogenase-like
RBM8A RNA binding motif protein 8A
SALL4 spalt-like transcription factor 4
TBX3 T-box 3
TBX5 T-box 5
TRPV4 transient receptor potential cation channel, subfamily V, member 4