abnormal circulating mineral level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the concentration in the blood of any naturally occurring, homogeneous inorganic solid substance having a definite chemical composition and highly ordered atomic arrangement that is required for growth and survival (Mammalian Phenotype Ontology, MP_0006357)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006357
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Genes

234 gene mutations causing the abnormal circulating mineral 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
ACP2 acid phosphatase 2, lysosomal
ACSBG2 acyl-CoA synthetase bubblegum family member 2
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTR6 ARP6 actin-related protein 6 homolog (yeast)
ACVR1B activin A receptor, type IB
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
ALDH16A1 aldehyde dehydrogenase 16 family, member A1
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AR androgen receptor
ARID4A AT rich interactive domain 4A (RBP1-like)
ARRB2 arrestin, beta 2
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
AVPR2 arginine vasopressin receptor 2
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS4 Bardet-Biedl syndrome 4
BRE brain and reproductive organ-expressed (TNFRSF1A modulator)
BRPF1 bromodomain and PHD finger containing, 1
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTBD9 BTB (POZ) domain containing 9
BTK Bruton agammaglobulinemia tyrosine kinase
C1ORF198 chromosome 1 open reading frame 198
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CALCB calcitonin-related polypeptide beta
CAND2 cullin-associated and neddylation-dissociated 2 (putative)
CASQ2 calsequestrin 2 (cardiac muscle)
CASR calcium-sensing receptor
CBX6 chromobox homolog 6
CCKBR cholecystokinin B receptor
CD200 CD200 molecule
CLDN16 claudin 16
CLDN4 claudin 4
CLEC2D C-type lectin domain family 2, member D
CLN3 ceroid-lipofuscinosis, neuronal 3
COL4A5 collagen, type IV, alpha 5
COX19 COX19 cytochrome c oxidase assembly factor
CP ceruloplasmin (ferroxidase)
CRH corticotropin releasing hormone
CSF1 colony stimulating factor 1 (macrophage)
CUL7 cullin 7
CYB561 cytochrome b561
CYFIP2 cytoplasmic FMR1 interacting protein 2
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DBN1 drebrin 1
DDHD1 DDHD domain containing 1
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DFNB31 deafness, autosomal recessive 31
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNASE2B deoxyribonuclease II beta
DUSP4 dual specificity phosphatase 4
EHD1 EH-domain containing 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EXOC6 exocyst complex component 6
FAM117B family with sequence similarity 117, member B
FAM132B family with sequence similarity 132, member B
FAM20C family with sequence similarity 20, member C
FAM53B family with sequence similarity 53, member B
FARSA phenylalanyl-tRNA synthetase, alpha subunit
FBXO7 F-box protein 7
FGF23 fibroblast growth factor 23
FHL1 four and a half LIM domains 1
FOXP2 forkhead box P2
FPGS folylpolyglutamate synthase
FXYD4 FXYD domain containing ion transport regulator 4
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GAR1 GAR1 ribonucleoprotein
GAST gastrin
GCM2 glial cells missing homolog 2 (Drosophila)
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GPC5 glypican 5
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRHL3 grainyhead-like 3 (Drosophila)
GSE1 Gse1 coiled-coil protein
GUCA2B guanylate cyclase activator 2B (uroguanylin)
HAMP hepcidin antimicrobial peptide
HBP1 HMG-box transcription factor 1
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HMOX1 heme oxygenase 1
HNF4A hepatocyte nuclear factor 4, alpha
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSPA4L heat shock 70kDa protein 4-like
IFT20 intraflagellar transport 20
IL10 interleukin 10
IL6ST interleukin 6 signal transducer
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12
KCNK1 potassium channel, two pore domain subfamily K, member 1
KDM7A lysine (K)-specific demethylase 7A
KEL Kell blood group, metallo-endopeptidase
KL klotho
LIX1L Lix1 homolog (chicken) like
LOC102723475 putative uncharacterized protein LOC388820
LONRF3 LON peptidase N-terminal domain and ring finger 3
LRP2 low density lipoprotein receptor-related protein 2
LTF lactotransferrin
LYPD3 LY6/PLAUR domain containing 3
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCF2L MCF.2 cell line derived transforming sequence-like
MED11 mediator complex subunit 11
MEN1 multiple endocrine neoplasia I
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MOCS2 molybdenum cofactor synthesis 2
MPZL3 myelin protein zero-like 3
MRAP2 melanocortin 2 receptor accessory protein 2
MTA1 metastasis associated 1
MTA3 metastasis associated 1 family, member 3
MYBPC3 myosin binding protein C, cardiac
MYO10 myosin X
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
NACAD NAC alpha domain containing
NDFIP2 Nedd4 family interacting protein 2
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NGFR nerve growth factor receptor
NPTN neuroplastin
NR3C2 nuclear receptor subfamily 3, group C, member 2
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PER2 period circadian clock 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PHTF2 putative homeodomain transcription factor 2
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1
PITX3 paired-like homeodomain 3
PLVAP plasmalemma vesicle associated protein
POU3F3 POU class 3 homeobox 3
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRDM4 PR domain containing 4
PRLR prolactin receptor
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
REN renin
RHAG Rh-associated glycoprotein
RHCE Rh blood group, CcEe antigens
RHCG Rh family, C glycoprotein
RNF7 ring finger protein 7
RPE65 retinal pigment epithelium-specific protein 65kDa
RPL38 ribosomal protein L38
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RXFP2 relaxin/insulin-like family peptide receptor 2
RYR1 ryanodine receptor 1 (skeletal)
SAG S-antigen; retina and pineal gland (arrestin)
SATB2 SATB homeobox 2
SCG5 secretogranin V
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin)
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SECISBP2 SECIS binding protein 2
SFRP1 secreted frizzled-related protein 1
SIRT2 sirtuin 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC30A7 solute carrier family 30 (zinc transporter), member 7
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
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SMYD2 SET and MYND domain containing 2
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
STEAP3 STEAP family member 3, metalloreductase
STK39 serine threonine kinase 39
SYTL1 synaptotagmin-like 1
TF transferrin
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFR2 transferrin receptor 2
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TM9SF4 transmembrane 9 superfamily protein member 4
TMEM189 transmembrane protein 189
TMEM27 transmembrane protein 27
TMEM68 transmembrane protein 68
TMPRSS6 transmembrane protease, serine 6
TOX3 TOX high mobility group box family member 3
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIM45 tripartite motif containing 45
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TTC7A tetratricopeptide repeat domain 7A
TXNDC2 thioredoxin domain containing 2 (spermatozoa)
TXNIP thioredoxin interacting protein
UMOD uromodulin
USH1C Usher syndrome 1C (autosomal recessive, severe)
USP24 ubiquitin specific peptidase 24
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR37 WD repeat domain 37
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
WTAP Wilms tumor 1 associated protein
WWOX WW domain containing oxidoreductase
XDH xanthine dehydrogenase
XK X-linked Kx blood group
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
ZBTB20 zinc finger and BTB domain containing 20
ZNF175 zinc finger protein 175