Osteopetrosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. (Human Disease Ontology, DOID_13533)
External Link https://www.disgenet.org/browser/0/1/0/C1838258
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Genes

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

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ACTG2 actin, gamma 2, smooth muscle, enteric
ADCY10 adenylate cyclase 10 (soluble)
ADO 2-aminoethanethiol (cysteamine) dioxygenase
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ARF1 ADP-ribosylation factor 1
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ARSA arylsulfatase A
ASCC1 activating signal cointegrator 1 complex subunit 1
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
BCL2 B-cell CLL/lymphoma 2
CA2 carbonic anhydrase II
CCDC154 coiled-coil domain containing 154
CD40 CD40 molecule, TNF receptor superfamily member 5
CKB creatine kinase, brain
CLC Charcot-Leyden crystal galectin
CLCN1 chloride channel, voltage-sensitive 1
CLCN7 chloride channel, voltage-sensitive 7
COL2A1 collagen, type II, alpha 1
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSK cathepsin K
DEGS1 delta(4)-desaturase, sphingolipid 1
DHCR24 24-dehydrocholesterol reductase
EXTL2 exostosin-like glycosyltransferase 2
EXTL3 exostosin-like glycosyltransferase 3
FERMT3 fermitin family member 3
FKBP4 FK506 binding protein 4, 59kDa
GAB2 GRB2-associated binding protein 2
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa
HCAR2 hydroxycarboxylic acid receptor 2
HLA-A major histocompatibility complex, class I, A
IFNG interferon, gamma
IGSF23 immunoglobulin superfamily, member 23
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
LEP leptin
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
MAGEC3 melanoma antigen family C3
MCOLN1 mucolipin 1
MITF microphthalmia-associated transcription factor
MRGPRF MAS-related GPR, member F
MYC v-myc avian myelocytomatosis viral oncogene homolog
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NR1I4 nuclear receptor subfamily 1, group I, member 4
OSTM1 osteopetrosis associated transmembrane protein 1
PDE11A phosphodiesterase 11A
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1
PSIP1 PC4 and SFRS1 interacting protein 1
PTDSS1 phosphatidylserine synthase 1
PTH parathyroid hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SNX10 sorting nexin 10
SOST sclerostin
SRC SRC proto-oncogene, non-receptor tyrosine kinase
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TREM2 triggering receptor expressed on myeloid cells 2
TSC1 tuberous sclerosis 1
TYROBP TYRO protein tyrosine kinase binding protein
VEGFA vascular endothelial growth factor A