hypocalcemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormally decreased calcium concentration in the blood. (Human Phenotype Ontology, HP_0002901)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002901
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Genes

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

Symbol Name
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
CAMKMT calmodulin-lysine N-methyltransferase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CCBE1 collagen and calcium binding EGF domains 1
CHD7 chromodomain helicase DNA binding protein 7
CLCN7 chloride channel, voltage-sensitive 7
COMT catechol-O-methyltransferase
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
GATA3 GATA binding protein 3
GCM2 glial cells missing homolog 2 (Drosophila)
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
IFT122 intraflagellar transport 122
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PTH parathyroid hormone
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SNX10 sorting nexin 10
STX16 syntaxin 16
TBCE tubulin folding cofactor E
TBX1 T-box 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRPM6 transient receptor potential cation channel, subfamily M, member 6
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor