Tetany Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0039621
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Genes

24 genes associated with the disease Tetany in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKAP5 A kinase (PRKA) anchor protein 5
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
CASR calcium-sensing receptor
CLDN16 claudin 16
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2
COMT catechol-O-methyltransferase
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
GCM2 glial cells missing homolog 2 (Drosophila)
GNAS GNAS complex locus
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
JMJD1C jumonji domain containing 1C
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
PTH parathyroid hormone
RREB1 ras responsive element binding protein 1
SEC24C SEC24 family member C
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
UFD1 ubiquitin recognition factor in ER associated degradation 1