Hypophosphatemic 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/C0733682
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Genes

71 genes associated with the disease Hypophosphatemic Rickets in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
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
CCHCR1 coiled-coil alpha-helical rod protein 1
CLCN5 chloride channel, voltage-sensitive 5
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSK cathepsin K
CXCL12 chemokine (C-X-C motif) ligand 12
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
DBP D site of albumin promoter (albumin D-box) binding protein
DKK1 dickkopf WNT signaling pathway inhibitor 1
DMP1 dentin matrix acidic phosphoprotein 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FGF14 fibroblast growth factor 14
FGF20 fibroblast growth factor 20
FGF23 fibroblast growth factor 23
FGF9 fibroblast growth factor 9
FRZB frizzled-related protein
GH1 growth hormone 1
GLRA2 glycine receptor, alpha 2
HNF4A hepatocyte nuclear factor 4, alpha
HRAS Harvey rat sarcoma viral oncogene homolog
KL klotho
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
MEPE matrix extracellular phosphoglycoprotein
MMP13 matrix metallopeptidase 13
MUC1 mucin 1, cell surface associated
NAB2 NGFI-A binding protein 2 (EGR1 binding protein 2)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
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
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
SCG5 secretogranin V
SELENBP1 selenium binding protein 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SFRP1 secreted frizzled-related protein 1
SGK3 serum/glucocorticoid regulated kinase family, member 3
SHBG sex hormone-binding globulin
SKA1 spindle and kinetochore associated complex subunit 1
SLC17A1 solute carrier family 17 (organic anion transporter), member 1
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SPP1 secreted phosphoprotein 1
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
TBX1 T-box 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
XPR1 xenotropic and polytropic retrovirus receptor 1