Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker BEFREE RUNX2 analysis of Danish cleidocranial dysplasia families. 20560987

2011

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE Our results provide new genetic evidence that mutations involved in RUNX2 contribute to CCD. 20702542

2010

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE RUNX2 mutations lead to cleidocranial dysplasia in humans. 17022082

2006

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. 27272193

2016

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE The mutation of the RUNX2 gene results in cleidocranial dysplasia syndrome. 27500518

2018

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 AlteredExpression 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation 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

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker BEFREE On the one hand, these genotype-phenotype correlations highlight a general, quantitative dependency, by skeleto-dental developments, on the gene dosage of RUNX2, which has hitherto been obscured by extreme clinical diversities of CCD; this gene-dosage effect is presumed to manifest on small reductions in the total RUNX2 activity, by approximately one-fourth of the normal level at minimum. 12196916

2002

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE Our results provide new genetic evidence that mutations involved in RUNX2 contribute to CCD. 19767586

2009

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. 11459326

2001