RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Abnormal facility in opposing the shoulders
0.100 Biomarker phenotype HPO
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
0.100 Biomarker disease HPO
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
0.100 Biomarker group HPO
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
0.100 Biomarker phenotype HPO
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
0.100 Biomarker disease HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
0.100 Biomarker disease HPO
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses
0.100 Biomarker phenotype HPO
CUI: C1857131
Disease: Absent paranasal sinuses
Absent paranasal sinuses
0.100 Biomarker phenotype HPO
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia
0.010 GeneticVariation disease BEFREE We tested this approach in three patients with complex chromosomal translocations: The first had craniofacial abnormalities and an apparently balanced t(2;3)(p15;q12) translocation; the second has cleidocranial dysplasia (OMIM 119600) associated with a t(2;6)(q22;p12.3) translocation and a breakpoint in RUNX2 on chromosome 6p; and the third has acampomelic campomelic dysplasia (OMIM 114290) associated with a t(5;17)(q23.2;q24) translocation, with a breakpoint upstream of SOX9 on chromosome 17q. 21890680 2011
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 Biomarker disease BEFREE Finally, we constructed a gene expression- and interaction-based outcome predictor consisting of 27 genes (including GRB2, GAB1, GLI1, IRS1, RUNX2, and SPP1), which correlated with overall survival in BCR-ABL-positive adult ALL (P = .0001), independent of age (P = .25) and WBC count at presentation (P = .003). 17312329 2007
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia
0.010 Biomarker disease BEFREE Hsp27 was abundantly expressed in newly diagnosed AML-M4/M5 bone marrow mononuclear cells (BMMCs) and THP-1, OCI/AML-3 leukemia cell lines. 23404246 2013
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.040 GeneticVariation disease BEFREE Recently, differentiation therapy of acute promyelocytic leukemias (AML3 subtype) with all-trans-retinoic acid has been shown to be an efficient alternative to chemotherapy. 1317749 1992
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.040 AlteredExpression disease BEFREE However, only the combinations of all-trans retinoic acid or arsenic trioxide with chemotherapy have been successful, and only in treating acute promyelocytic leukemia (also called AML3). 20368581 2010
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.040 GeneticVariation disease BEFREE ATRA is strikingly effective in acute promyelocytic leukemia (the AML3 subtype) inducing a high incidence of complete remissions. 8309256 1994
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.040 Biomarker disease BEFREE Finally, knockdown of miR-128a in OCI-AML3 and in APL/AML leukemic cells (by transfection and lentiviral infection, respectively) induced myeloid cell differentiation and increased expression of Lin28A, EGR2, ZFP36 and ANXA1, reverting myeloid differentiation blockage. 28569789 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 AlteredExpression group BEFREE Examination of RUNX2 expression in esophageal cancer showed its upregulation concomitant with the development of dysplasia and continued expression in adenocarcinoma. 28631378 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 Biomarker group BEFREE A microRNA/Runx1/Runx2 network regulates prostate tumor progression from onset to adenocarcinoma in TRAMP mice. 27634876 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 AlteredExpression group BEFREE The clinical significance of these findings is supported by human tissue microarray studies of prostate tumors at stages of cancer progression, in which Runx2 is expressed in both adenocarcinomas and metastatic tumors. 19915614 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 Biomarker group BEFREE Moreover, transforming growth factor-β induced RUNX2/ p57 overexpression and specific RUNX2 knockdown supported a role for RUNX2 in epithelial mesenchymal transition, which was demonstrated through loss of function assays in adenocarcinoma A549 lung cancer cell line. 31109257 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.010 Biomarker disease BEFREE LINC01638 silencing inhibits cancer cell proliferation in colorectal adenocarcinoma through interaction with RUNX2. 31059049 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 Biomarker disease BEFREE Cellular proliferation of ALDH3A1-expressing lung adenocarcinoma (A549) and glioblastoma (SF767) cell lines, as well as ALDH3A1 non-expressing lung fibroblast (CCD-13Lu) cells, is unaffected by treatment with CB29 and its analogues alone. 24677340 2014
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 Biomarker disease BEFREE The results of our study and the comprehensive review of the literature show that pathways of forming supernumerary teeth appear to involve APC and RUNX2, the genes responsible for familial adenomatous polyposis syndrome and cleidocranial dysplasia, respectively. 27706911 2017
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.010 Biomarker disease BEFREE The expression of type X collagen, Runx2, and Runx2 mRNA, the cell density of type X collagen and Runx2 positive chondrocytes, and histological changes between convex side and concave side of the vertebral growth plate indicated that the vertebral growth plate was affected by mechanical forces, which was a secondary change and could contribute to progression of adolescent idiopathic scoliosis. 20073986 2010
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.010 Biomarker disease BEFREE Finally, we constructed a gene expression- and interaction-based outcome predictor consisting of 27 genes (including GRB2, GAB1, GLI1, IRS1, RUNX2, and SPP1), which correlated with overall survival in BCR-ABL-positive adult ALL (P = .0001), independent of age (P = .25) and WBC count at presentation (P = .003). 17312329 2007
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 GeneticVariation disease BEFREE Cellular proliferation of ALDH3A1-expressing lung adenocarcinoma (A549) and glioblastoma (SF767) cell lines, as well as ALDH3A1 non-expressing lung fibroblast (CCD-13Lu) cells, is unaffected by treatment with CB29 and its analogues alone. 24677340 2014