abnormal circulating alkaline phosphatase 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 the enzyme which hydrolyzes orthophosphoric monoesters; low levels are seen in cases of hypophosphatasia (Mammalian Phenotype Ontology, MP_0000202)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000202
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Genes

125 gene mutations causing the abnormal circulating alkaline phosphatase 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
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ACOX1 acyl-CoA oxidase 1, palmitoyl
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AHCYL1 adenosylhomocysteinase-like 1
AKAP9 A kinase (PRKA) anchor protein 9
ALPL alkaline phosphatase, liver/bone/kidney
AMACR alpha-methylacyl-CoA racemase
ANKH ANKH inorganic pyrophosphate transport regulator
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
AP3S2 adaptor-related protein complex 3, sigma 2 subunit
APOE apolipoprotein E
ARRB2 arrestin, beta 2
ASGR1 asialoglycoprotein receptor 1
ATPIF1 ATPase inhibitory factor 1
B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3
BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1
BTK Bruton agammaglobulinemia tyrosine kinase
CBX6 chromobox homolog 6
CD28 CD28 molecule
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CLCN7 chloride channel, voltage-sensitive 7
CNN1 calponin 1, basic, smooth muscle
COL1A1 collagen, type I, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CRH corticotropin releasing hormone
CTH cystathionine gamma-lyase
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DAAM2 dishevelled associated activator of morphogenesis 2
DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27
DEGS1 delta(4)-desaturase, sphingolipid 1
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DYNLL1 dynein, light chain, LC8-type 1
ELK4 ELK4, ETS-domain protein (SRF accessory protein 1)
ELMOD1 ELMO/CED-12 domain containing 1
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
EPB41L5 erythrocyte membrane protein band 4.1 like 5
EYA4 EYA transcriptional coactivator and phosphatase 4
FAM134C family with sequence similarity 134, member C
FAM20C family with sequence similarity 20, member C
FAM96A family with sequence similarity 96, member A
FBXO11 F-box protein 11
FECH ferrochelatase
FGF23 fibroblast growth factor 23
FHL1 four and a half LIM domains 1
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GPRC5C G protein-coupled receptor, class C, group 5, member C
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HDGFRP2 hepatoma-derived growth factor-related protein 2
HPN hepsin
IFT88 intraflagellar transport 88
ITGB5 integrin, beta 5
JAK1 Janus kinase 1
KCTD15 potassium channel tetramerization domain containing 15
KISS1R KISS1 receptor
LECT1 leukocyte cell derived chemotaxin 1
LMNA lamin A/C
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRRK1 leucine-rich repeat kinase 1
LYPD3 LY6/PLAUR domain containing 3
LZTR1 leucine-zipper-like transcription regulator 1
MB21D1 Mab-21 domain containing 1
MIR122 microRNA 122
MTMR3 myotubularin related protein 3
MTSS1 metastasis suppressor 1
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
NAGA N-acetylgalactosaminidase, alpha-
NCOA1 nuclear receptor coactivator 1
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NPR3 natriuretic peptide receptor 3
NT5E 5'-nucleotidase, ecto (CD73)
NUCB2 nucleobindin 2
OAT ornithine aminotransferase
OSTM1 osteopetrosis associated transmembrane protein 1
PER2 period circadian clock 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF20 PHD finger protein 20
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PITPNA phosphatidylinositol transfer protein, alpha
PITX3 paired-like homeodomain 3
PLEKHM2 pleckstrin homology domain containing, family M (with RUN domain) member 2
PRKCZ protein kinase C, zeta
RAB5C RAB5C, member RAS oncogene family
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3
RDX radixin
RIC1 RAB6A GEF complex partner 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RXFP2 relaxin/insulin-like family peptide receptor 2
SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
SEPT8 septin 8
SIK3 SIK family kinase 3
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), 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
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC38A10 solute carrier family 38, member 10
SOD2 superoxide dismutase 2, mitochondrial
ST18 suppression of tumorigenicity 18, zinc finger
STC2 stanniocalcin 2
SUCO SUN domain containing ossification factor
TBC1D10A TBC1 domain family, member 10A
TCF7 transcription factor 7 (T-cell specific, HMG-box)
THRB thyroid hormone receptor, beta
TMEM189 transmembrane protein 189
TNIK TRAF2 and NCK interacting kinase
TRPC3 transient receptor potential cation channel, subfamily C, member 3
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UMOD uromodulin
USP1 ubiquitin specific peptidase 1
USP3 ubiquitin specific peptidase 3
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR37 WD repeat domain 37
WDR47 WD repeat domain 47
WTAP Wilms tumor 1 associated protein
WWOX WW domain containing oxidoreductase
XBP1 X-box binding protein 1
XDH xanthine dehydrogenase
XYLB xylulokinase homolog (H. influenzae)
ZBTB20 zinc finger and BTB domain containing 20
ZNF175 zinc finger protein 175