Rickets Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone. (Experimental Factor Ontology, EFO_0005583)
External Link https://www.disgenet.org/browser/0/1/0/C0035579
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Genes

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

Symbol Name
ACKR3 atypical chemokine receptor 3
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
ALPL alkaline phosphatase, liver/bone/kidney
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAAT bile acid CoA:amino acid N-acyltransferase
BGLAP bone gamma-carboxyglutamate (gla) protein
BRS3 bombesin-like receptor 3
CASR calcium-sensing receptor
CHDH choline dehydrogenase
CLCN5 chloride channel, voltage-sensitive 5
CLDN16 claudin 16
CRP C-reactive protein, pentraxin-related
CTNS cystinosin, lysosomal cystine transporter
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR6 chemokine (C-X-C motif) receptor 6
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DHCR7 7-dehydrocholesterol reductase
DMP1 dentin matrix acidic phosphoprotein 1
EDNRA endothelin receptor type A
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
FAM20C family with sequence similarity 20, member C
FARSB phenylalanyl-tRNA synthetase, beta subunit
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
GC group-specific component (vitamin D binding protein)
GH1 growth hormone 1
GPR42 G protein-coupled receptor 42 (gene/pseudogene)
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNF4A hepatocyte nuclear factor 4, alpha
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
KL klotho
LPAR2 lysophosphatidic acid receptor 2
LRP2 low density lipoprotein receptor-related protein 2
MCL1 myeloid cell leukemia 1
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
NADSYN1 NAD synthetase 1
OCRL oculocerebrorenal syndrome of Lowe
PHEX phosphate regulating endopeptidase homolog, X-linked
PHGDH phosphoglycerate dehydrogenase
PRL prolactin
PSAT1 phosphoserine aminotransferase 1
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
SFTPA1 surfactant protein A1
SHOX short stature homeobox
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SNX10 sorting nexin 10
SSTR4 somatostatin receptor 4
TALDO1 transaldolase 1
TGM2 transglutaminase 2
TJP2 tight junction protein 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A