Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE Although CCD is usually caused by mutations leading to haploinsufficiency of RUNX2, the underlying genetic cause remains unresolved in about 25% of cases. 22717651 2012
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 Biomarker disease BEFREE Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). 28091408 2017
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 Biomarker disease BEFREE RUNX2 analysis of Danish cleidocranial dysplasia families. 20560987 2011
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE Cleidocranial dysplasia (CCD) is a skeletal dysplasia caused by heterozygous mutations of RUNX2, a gene that is essential for the mineralization of bone and tooth. 25589510 2015
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 Biomarker disease CTD_human RUNX2 mutations lead to cleidocranial dysplasia in humans. 17022082 2006
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE Our results provide new genetic evidence that mutations involved in RUNX2 contribute to CCD. 20702542 2010
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE RUNX2 mutations lead to cleidocranial dysplasia in humans. 17022082 2006
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 Biomarker disease BEFREE In addition, AML3 has an essential role in bone development, as it is required for osteoblast differentiation and is mutated in patients with cleidocranial dysplasia.J.Cell.Biochem.Suppls.32/33:51-58, 1999. 10629103 1999
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia. 21115325 2011
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE A missense mutation (c.674 G > T, p. R225 L) of RUNX2 gene was identified in the CCD patient. 30391791 2019
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 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
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease LHGDN In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients. 16270353 2006
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. 27272193 2016
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE RUNX2 mutations could cause Cleidocranial dysplasia (CCD; OMIM119600), which is featured by abnormal development of bone and teeth. 29233684 2018
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE These findings extend the mutational spectrum of the RUNX2 gene and might contribute to genetic diagnosis and counseling of families with CCD. 30798031 2019
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE To understand the mechanism underlying the pathogenesis of CCD, we studied a novel mutant of RUNX2, namely CCDalphaA376, originally identified in a CCD patient. 11368305 2001
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 Biomarker disease BEFREE For the first time, RUNX2(+/m) dental pulp cells (DPCs) were isolated from two permanent incisors of the CCD patient. 20872798 2010
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 Biomarker disease BEFREE Haploinsufficiency of RUNX2 is the genetic cause of cleidocranial dysplasia (CCD) that is characterized by hypoplastic clavicles and open fontanels. 23702614 2013
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE The mutation of the RUNX2 gene results in cleidocranial dysplasia syndrome. 27500518 2018
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE These results confirm that loss of function RUNX2 mutation (c.577C>T) in Case 1 family is responsible for its CCD phenotype. 19515746 2009
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 AlteredExpression disease BEFREE Cleidocranial dysplasia (CCD) is an autosomal dominant disease characterized by skeletal abnormalities which is secondary to haploinsufficiency of the transcription factor Runx2 that plays a role in osteoblast differentiation. 18818114 2008
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE Mutations in RUNX2 are detected in approximately 65% of cases of CCD, and microdeletions occur in 13%. 20014132 2010
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease UNIPROT In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients. 16270353 2006
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations. 28173761 2017
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		1.000 GeneticVariation disease BEFREE Lastly, heterozygous mutations in the Osf2/Cbfa1 gene cause Cleidocranial dysplasia in human and mice, a condition marked by generalized bone defects. 9682035 1998