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 | 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 IL-11 produced by blastic cells from a patient with acute megakaryocytic leukemia enhanced expression of osteoprotegerin, causing the osteosclerosis observed in this patient |
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 | 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. Increased gonial angle (AD osteosclerosis) |
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 |