abnormal vitamin d level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3) (Mammalian Phenotype Ontology, MP_0011228)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011228
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Genes

14 gene mutations causing the abnormal vitamin d 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
CLDN16 claudin 16
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
FGF23 fibroblast growth factor 23
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GC group-specific component (vitamin D binding protein)
KL klotho
PHEX phosphate regulating endopeptidase homolog, X-linked
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
TRPV5 transient receptor potential cation channel, subfamily V, member 5
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor