RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Disease: Cleidocranial Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 AlteredExpression disease BEFREE Therefore, the pathogenesis of CCD may be related to the impaired Smad signaling of transforming growth factor beta/bone morphogenetic protein pathways that target the activity of RUNX2 during bone formation. 10962029 2000
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. 11459326 2001
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism and PCR-restriction fragment length polymorphism. 11448020 2001
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. 11768584 2001
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 Biomarker disease 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients. 11857736 2002
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. 12081718 2002
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease UNIPROT 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE Cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene. 12424591 2002
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE While the clinical examination showed uncharacteristic CCD symptoms with some findings common for RTS, the molecular-genetic analysis revealed a missense mutation in the CBFA1 gene, which is considered to be the etiological factor for CCD. 12416539 2002
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease UNIPROT New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. 12081718 2002
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease UNIPROT Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients. 11857736 2002
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease LHGDN Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients. 11857736 2002
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE RUNX2 contains a glutamine-alanine repeat where mutations causing cleidocranial dysplasia (CCD) have been observed. 12162506 2002
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease UNIPROT Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 12424590 2002
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 AlteredExpression disease LHGDN 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
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE Our data add new variants to the repertoire of RUNX2 mutations in CCD. 12815605 2003
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease LHGDN Our data add new variants to the repertoire of RUNX2 mutations in CCD. 12815605 2003
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease LHGDN Overall, these results suggest that CCD could result from a much smaller loss in the RUNX2 function than envisioned on the basis of the conventional haploinsufficiency model. 12732182 2004
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 Biomarker disease CTD_human Heterozygous mutations in Runx2 cause cleidocranial dysplasia (CCD), an inherited disorder in humans and mice characterized by skeletal defects, supernumerary teeth, and delayed eruption. 14688224 2004
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 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: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 Biomarker disease BEFREE Overall, these results suggest that CCD could result from a much smaller loss in the RUNX2 function than envisioned on the basis of the conventional haploinsufficiency model. 12732182 2004
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 GeneticVariation disease BEFREE A novel 574G > A RUNX2 missense mutation has been found in members of a family clinically diagnosed with CCD. 16244783 2005
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		1.000 Biomarker disease BEFREE Together, these data show that humans with CCD have altered endochondral ossification due to altered RUNX2 regulation of hypertrophic chondrocyte-specific genes during chondrocyte maturation. 15952089 2005