decreased circulating alkaline phosphatase level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced concentration in the blood of the enzyme which hydrolyzes orthophosphoric monoesters (Mammalian Phenotype Ontology, MP_0002966)
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31 gene mutations causing the decreased circulating alkaline phosphatase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ALPL alkaline phosphatase, liver/bone/kidney
ATPIF1 ATPase inhibitory factor 1
BTK Bruton agammaglobulinemia tyrosine kinase
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
COL1A1 collagen, type I, alpha 1
DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27
EPB41L5 erythrocyte membrane protein band 4.1 like 5
EYA4 EYA transcriptional coactivator and phosphatase 4
FAM96A family with sequence similarity 96, member A
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
KCTD15 potassium channel tetramerization domain containing 15
LECT1 leukocyte cell derived chemotaxin 1
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRRK1 leucine-rich repeat kinase 1
LYPD3 LY6/PLAUR domain containing 3
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
OAT ornithine aminotransferase
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF20 PHD finger protein 20
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
SLC38A10 solute carrier family 38, member 10
ST18 suppression of tumorigenicity 18, zinc finger
TBC1D10A TBC1 domain family, member 10A
THRB thyroid hormone receptor, beta
USP1 ubiquitin specific peptidase 1
WWOX WW domain containing oxidoreductase
XYLB xylulokinase homolog (H. influenzae)