abnormal circulating calcium level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the concentration of calcium in the blood (Mammalian Phenotype Ontology, MP_0001562)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001562
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Genes

76 gene mutations causing the abnormal circulating calcium level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ACSL4 acyl-CoA synthetase long-chain family member 4
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ARID4A AT rich interactive domain 4A (RBP1-like)
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CALCB calcitonin-related polypeptide beta
CASR calcium-sensing receptor
CLDN4 claudin 4
CLEC2D C-type lectin domain family 2, member D
COL4A5 collagen, type IV, alpha 5
CRH corticotropin releasing hormone
CSF1 colony stimulating factor 1 (macrophage)
CUL7 cullin 7
CYB561 cytochrome b561
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DFNB31 deafness, autosomal recessive 31
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FAM20C family with sequence similarity 20, member C
FGF23 fibroblast growth factor 23
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GCM2 glial cells missing homolog 2 (Drosophila)
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GRHL3 grainyhead-like 3 (Drosophila)
GSE1 Gse1 coiled-coil protein
HBP1 HMG-box transcription factor 1
HSPA4L heat shock 70kDa protein 4-like
IL6ST interleukin 6 signal transducer
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
KL klotho
LIX1L Lix1 homolog (chicken) like
LYPD3 LY6/PLAUR domain containing 3
MED11 mediator complex subunit 11
MEN1 multiple endocrine neoplasia I
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MPZL3 myelin protein zero-like 3
MRAP2 melanocortin 2 receptor accessory protein 2
MYO7A myosin VIIA
NDFIP2 Nedd4 family interacting protein 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1
PLVAP plasmalemma vesicle associated protein
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRLR prolactin receptor
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RNF7 ring finger protein 7
RXFP2 relaxin/insulin-like family peptide receptor 2
SAG S-antigen; retina and pineal gland (arrestin)
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC38A10 solute carrier family 38, member 10
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TM9SF4 transmembrane 9 superfamily protein member 4
TMEM189 transmembrane protein 189
TOX3 TOX high mobility group box family member 3
TRPV5 transient receptor potential cation channel, subfamily V, member 5
UMOD uromodulin
USP24 ubiquitin specific peptidase 24
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR37 WD repeat domain 37
WWOX WW domain containing oxidoreductase
XDH xanthine dehydrogenase
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble