abnormality of calcium homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of calcium ion homeostasis. (Human Phenotype Ontology, HP_0004363)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004363
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Genes

92 genes associated with the abnormality of calcium homeostasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALPL alkaline phosphatase, liver/bone/kidney
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP7B ATPase, Cu++ transporting, beta polypeptide
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CAMKMT calmodulin-lysine N-methyltransferase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CCBE1 collagen and calcium binding EGF domains 1
CDC73 cell division cycle 73
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
COL10A1 collagen, type X, alpha 1
COMT catechol-O-methyltransferase
COX1
COX2
COX3
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
ELN elastin
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
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HIRA histone cell cycle regulator
IFT122 intraflagellar transport 122
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KIF1B kinesin family member 1B
LIMK1 LIM domain kinase 1
MEN1 multiple endocrine neoplasia I
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
NOTCH3 notch 3
OCRL oculocerebrorenal syndrome of Lowe
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
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
TBL2 transducin (beta)-like 2
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
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase