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
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.010 Biomarker disease BEFREE Collaboration of MYC and RUNX2 in lymphoma simulates T-cell receptor signaling and attenuates p53 pathway activity. 31257681 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		0.030 GeneticVariation disease BEFREE Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia or aplasia of clavicles, delayed fontanelle closure, and dental anomalies. 31347140 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		0.030 Biomarker disease BEFREE Cleidocranial dysplasia (CCD, MIM#119600), for which the responsible gene is RUNX2, is a genetic disorder characterized by hypoplasia or aplasia of the clavicles, patent fontanelles, and a short stature. 21040462 2010
CUI: C0000846
Disease: Agenesis
Agenesis 		0.030 Biomarker disease BEFREE RUNX2 regulates osteoblast differentiation and chondrocyte maturation and its haploinsufficiency leads to cleidocranial dysplasia, characterized large fontanelles, hypoplasia or aplasia of the clavicles, hypoplasia of the distal phalanges, and a wide pubic symphysis. 15566413 2004
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		0.010 Biomarker disease BEFREE Suppression of androgen-independent prostate cancer cell aggressiveness by FTY720: validating Runx2 as a potential antimetastatic drug screening platform. 19509141 2009
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 AlteredExpression disease BEFREE RNA and protein analyses showed that in cancellous bone, higher RANKL/OPG and adipoR1 levels and lower runx2 levels were observed, and in cartilage, higher adipoR1 and IL6 levels were observed in AIS. 30819183 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.020 AlteredExpression disease BEFREE Antibiotic significantly improved decreased bone mass in SCD mice mainly through enhanced osteoblast function and increased osteoblast-related genes (Runx2 and Igf1) expression in SCD mice. 31209247 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.020 AlteredExpression disease BEFREE The recurrent H/R stress further worsened bone structure, increased bone turnover, depressed osteoblastogenesis (Runx2, Sparc), and increased both osteoclast activity (RankL, Cathepsin k) and osteoclast recruitment (Rank) in SCD mice compared with either normoxic or single-H/R-episode SCD mice. 26330244 2015
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.040 AlteredExpression disease BEFREE Intriguingly, inhibition of ALP reduced RUNX2 expression, a master transcriptional factor in osteoblasts, and differentiation status of both primary Ct- and AS-BdCs. 30415492 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.040 Biomarker disease BEFREE Here, we used mesenchymal stem cells (MSCs) from AS patients (AS MSCs) within the enthesis involved in spinal ankylosis to delineate that the HLA-B27-mediated spliced X-box-binding protein 1 (sXBP1)/retinoic acid receptor-β (RARB)/tissue-nonspecific alkaline phosphatase (TNAP) axis accelerated the mineralization of AS MSCs, which was independent of Runt-related transcription factor 2 (Runx2). 31682238 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.040 Biomarker disease BEFREE Furthermore, in AS BdCs, RUNX2 interacted with C/EBPβ to bind to IL-23 promoter and RUNX2 knockdown suppressed IL-23 secretion. 28728847 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.040 Biomarker disease BEFREE The mRNA expression level of Cbfa1 was significantly higher in AS fibroblasts than that in normal fibroblasts and the expression of pSmad1, pSmad5, Smad4 and Cbfa1 in AS fibroblasts was also higher, demonstrating the activation of the BMP/Smads signal pathway in AS fifibroblasts. 27783321 2016
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 AlteredExpression disease BEFREE There was a 6.1-fold increase in median Runx2 mRNA levels in PDAC tissues compared to normal pancreatic tissues (P<0.0001). 17876328 2007
CUI: C0003130
Disease: Anoxia
Anoxia 		0.010 AlteredExpression phenotype LHGDN These data indicate that Runx2 expression in osteoblasts is reduced by hypoxia, and may be a mechanism of osteoporosis by decreased vascular supply. 12088880 2002
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.010 AlteredExpression disease BEFREE Increased expression of RUNX2 was demonstrated for the first time in abdominal aortic aneurysm tissue. 27358138 2016
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		0.030 Biomarker disease BEFREE LncRNA TUG1 sponges miR-204-5p to promote osteoblast differentiation through upregulating Runx2 in aortic valve calcification. 29016735 2018
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		0.030 AlteredExpression disease BEFREE The NOTCH signaling pathway was linked to a molecular pathway for aortic valve calcification, as NOTCH1 was found to repress activation of Runx2 - a transcription factor critical for osteoblast cell fate that is up-regulated in calcified human aortic valves. 16601454 2006
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		0.030 Biomarker disease BEFREE MiR-34a plays a role in aortic valve calcification via the Notch1-Runx2 pathway. 31393559 2020
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder 		0.010 Biomarker disease BEFREE We demonstrated a remarkable role of miRNA-30b in calcific aortic valve disease as a regulator of human aortic valvular calcification and apoptosis through direct targeting of Runx2, Smad1, and caspase-3. 23968872 2014
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.010 AlteredExpression disease BEFREE Expression of Notch1 was decreased, and expression of Runt-related transcription factor 2 (Runx2) was increased in patients with CAVS compared with those with AR. 31393559 2020
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.010 AlteredExpression disease BEFREE Plasma levels of tartrate-resistant acid phosphatase (TRAP), receptor activator of nuclear-κB (RANK) ligand and Runt-related transcription factor 2 (Runx2/Cbfa1) exhibited a significant correlation to the severity of aortic stenosis. mRNA levels in normal, thickened and calcified parts of aortic valves assessed by quantitative real-time PCR were significantly elevated in calcified parts of valves for TRAP (5.08 ± 1.6-fold, P<0.001) RANK ligand (8.6 ± 4.2-fold, P<0.001) and RANK (1.98 ± 0.78-fold, P=0.015). 23452891 2013
CUI: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		0.100 Biomarker phenotype HPO
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE We have demonstrated runt-related transcription factor 2 (Runx2) plays important role in atherosclerosis. 30746746 2019
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 AlteredExpression disease BEFREE Peripheral blood expression profiles of bone morphogenetic proteins, tumor necrosis factor-superfamily molecules, and transcription factor Runx2 could be used as markers of the form of arthritis, disease activity, and therapeutic responsiveness. 20008919 2010
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.310 Biomarker disease CTD_human Peripheral blood expression profiles of bone morphogenetic proteins, tumor necrosis factor-superfamily molecules, and transcription factor Runx2 could be used as markers of the form of arthritis, disease activity, and therapeutic responsiveness. 20008919 2010