Vitamin D-Dependent Rickets Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C3536984
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Genes

57 genes associated with the disease Vitamin D-Dependent Rickets in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ANOS1 anosmin 1
AR androgen receptor
AVPR2 arginine vasopressin receptor 2
BGLAP bone gamma-carboxyglutamate (gla) protein
BPI bactericidal/permeability-increasing protein
CALCA calcitonin-related polypeptide alpha
CALCR calcitonin receptor
CLCN5 chloride channel, voltage-sensitive 5
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSK cathepsin K
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DKK1 dickkopf WNT signaling pathway inhibitor 1
DMP1 dentin matrix acidic phosphoprotein 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
FAM20C family with sequence similarity 20, member C
FDX1 ferredoxin 1
FGF2 fibroblast growth factor 2 (basic)
FGF23 fibroblast growth factor 23
FRZB frizzled-related protein
GH1 growth hormone 1
KL klotho
L1CAM L1 cell adhesion molecule
MEPE matrix extracellular phosphoglycoprotein
MMP13 matrix metallopeptidase 13
MUC1 mucin 1, cell surface associated
NT5E 5'-nucleotidase, ecto (CD73)
PHEX phosphate regulating endopeptidase homolog, X-linked
POTEF POTE ankyrin domain family, member F
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRRT2 proline-rich transmembrane protein 2
PTH parathyroid hormone
PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
SCG5 secretogranin V
SFRP1 secreted frizzled-related protein 1
SFTPA1 surfactant protein A1
SKA1 spindle and kinetochore associated complex subunit 1
SLC17A1 solute carrier family 17 (organic anion transporter), member 1
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SMS spermine synthase
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SPP1 secreted phosphoprotein 1
TBPL1 TBP-like 1
TBX1 T-box 1
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TYRP1 tyrosinase-related protein 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor