tetany Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. (Human Phenotype Ontology, HP_0001281)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001281
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Genes

11 genes associated with the tetany phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CASR calcium-sensing receptor
CLDN16 claudin 16
GCM2 glial cells missing homolog 2 (Drosophila)
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
PTH parathyroid hormone
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
TBCE tubulin folding cofactor E
TBX1 T-box 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TRPM6 transient receptor potential cation channel, subfamily M, member 6