Human | PDB4 | 94003 | Paget disease of bone 4 | Mixed regions of osteosclerosis and osteolysis |
Human | FAM20C | 56975 | family with sequence similarity 20, member C | Generalized osteosclerosis |
Human | SOST | 50964 | sclerostin | |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | INFERRED, Score=800, UMLKSK CUI: C0029464 |
Human | LEMD3 | 23592 | LEM domain containing 3 | |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | INFERRED, Score=800, UMLKSK CUI: C0029464 |
Human | PLEKHM1 | 9842 | pleckstrin homology domain containing, family M (with RUN domain) member 1 | INFERRED, Score=800, UMLKSK CUI: C0029464 |
Human | SQSTM1 | 8878 | sequestosome 1 | Mixed regions of osteosclerosis and osteolysis |
Human | TNFRSF11A | 8792 | tumor necrosis factor receptor superfamily, member 11a, NFKB activator | Mixed regions of osteosclerosis and osteolysis |
Human | TNFSF11 | 8600 | tumor necrosis factor (ligand) superfamily, member 11 | |
Human | TNFRSF11B | 4982 | tumor necrosis factor receptor superfamily, member 11b | IL-11 produced by blastic cells from a patient with acute megakaryocytic leukemia enhanced expression of osteoprotegerin, causing the osteosclerosis observed in this patient results suggest that osteosclerosis in idiopathic myelofibrosis may be related to overproduction of OPG, and enhanced level of OPG is not due to the direct effect of TGF-beta1 on the bone marrow stromal cells |
Human | MPL | 4352 | myeloproliferative leukemia virus oncogene | MPL gene mutations were not associated with erythrocytosis, but segregated primarily with the phenotypes of thrombocytosis, extramedullary disease, myelofibrosis, and osteosclerosis |
Human | MITF | 4286 | microphthalmia-associated transcription factor | INFERRED, Score=800, UMLKSK CUI: C0029464 |
Human | LRP5 | 4041 | low density lipoprotein receptor-related protein 5 | Increased gonial angle (AD osteosclerosis) To our knowledge, this is the first report in the literature of patients presenting with autosomal dominant osteosclerosis in whom a variable expression of craniosynostosis, macrocephaly, and mild developmental delay is observed, which is most likely associated with a mutation in the LRP5 gene. |
Human | DHCR24 | 1718 | 24-dehydrocholesterol reductase | |
Human | CTSK | 1513 | cathepsin K | |
Human | CLCN7 | 1186 | chloride channel, voltage-sensitive 7 | Osteosclerosis, diffuse symmetrical |
Human | CLCN1 | 1180 | chloride channel, voltage-sensitive 1 | INFERRED, Score=800, UMLKSK CUI: C0029464 |
Human | RUNX2 | 860 | runt-related transcription factor 2 | |
Human | CA2 | 760 | carbonic anhydrase II | |
Human | ALPL | 249 | alkaline phosphatase, liver/bone/kidney | Inheritance, absence of malformations, increased serum alkaline phosphatase, peak bone mass decreasing physiologically with age, and involvement of cortical and trabecular bone suggest a new variant of hyperostosis/osteosclerosis |
Human | ACP5 | 54 | acid phosphatase 5, tartrate resistant | INFERRED, Score=800, UMLKSK CUI: C0029464 |