Osteosclerosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A bone remodeling disease that results_in abnormal elevated bone density or mass. (Human Disease Ontology, DOID_4254)
External Link https://www.disgenet.org/browser/0/1/0/C1510415
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Genes

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

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ADO 2-aminoethanethiol (cysteamine) dioxygenase
ADRB1 adrenoceptor beta 1
ADRB2 adrenoceptor beta 2, surface
ADRB3 adrenoceptor beta 3
AGXT alanine-glyoxylate aminotransferase
AIRE autoimmune regulator
ALPL alkaline phosphatase, liver/bone/kidney
ANO5 anoctamin 5
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BEST1 bestrophin 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BMP2 bone morphogenetic protein 2
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
CTSK cathepsin K
DLX3 distal-less homeobox 3
DMD dystrophin
DMP1 dentin matrix acidic phosphoprotein 1
DVL1 dishevelled segment polarity protein 1
EDN1 endothelin 1
ELN elastin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FGF23 fibroblast growth factor 23
FLNA filamin A, alpha
GBA glucosidase, beta, acid
GH1 growth hormone 1
GNAS GNAS complex locus
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
GZMH granzyme H (cathepsin G-like 2, protein h-CCPX)
HSPG2 heparan sulfate proteoglycan 2
IL11 interleukin 11
IL4 interleukin 4
JAK2 Janus kinase 2
LEMD3 LEM domain containing 3
LEPR leptin receptor
LIMK1 LIM domain kinase 1
LPIN2 lipin 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LTBP3 latent transforming growth factor beta binding protein 3
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MC4R melanocortin 4 receptor
MPL MPL proto-oncogene, thrombopoietin receptor
MPLKIP M-phase specific PLK1 interacting protein
MYOM2 myomesin 2
NOD2 nucleotide-binding oligomerization domain containing 2
PCNA proliferating cell nuclear antigen
PLCL1 phospholipase C-like 1
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
RFC2 replication factor C (activator 1) 2, 40kDa
RNF113A ring finger protein 113A
RUNX2 runt-related transcription factor 2
SCARB2 scavenger receptor class B, member 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SMAD3 SMAD family member 3
SOST sclerostin
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TPO thyroid peroxidase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WRN Werner syndrome, RecQ helicase-like