osteopetrosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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 http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000067
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Genes

32 gene mutations causing the osteopetrosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
CLCN7 chloride channel, voltage-sensitive 7
COL1A1 collagen, type I, alpha 1
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CTSK cathepsin K
DCSTAMP dendrocyte expressed seven transmembrane protein
ESRRA estrogen-related receptor alpha
FERMT3 fermitin family member 3
FOS FBJ murine osteosarcoma viral oncogene homolog
GAB2 GRB2-associated binding protein 2
GSN gelsolin
HCST hematopoietic cell signal transducer
JDP2 Jun dimerization protein 2
KL klotho
LEP leptin
LRRK1 leucine-rich repeat kinase 1
MITF microphthalmia-associated transcription factor
MMP9 matrix metallopeptidase 9
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
OSTM1 osteopetrosis associated transmembrane protein 1
SBNO2 strawberry notch homolog 2 (Drosophila)
SIGLEC15 sialic acid binding Ig-like lectin 15
SPI1 Spi-1 proto-oncogene
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
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TYROBP TYRO protein tyrosine kinase binding protein