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 LHGDN six novel mutations causing 2 amino acid substitutions and four frameshift mutations were identified in the RUNX2 gene of Italian cleidocranial dysplasia patients. 12815605

2003

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 CausalMutation CLINVAR In addition, one patient with severe CCD and a frameshift mutation in codon 402 had osteoporosis leading to recurrent bone fractures and scoliosis, providing first evidence that CBFA1 may help maintain adult bone, in addition to its function in bone development. 10521292

1999

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD. 28738062

2017

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia. 9233771

1997

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Morphological characterization of skeletal cells in Cbfa1-deficient mice. 10593408

1999

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT In addition, one patient with severe CCD and a frameshift mutation in codon 402 had osteoporosis leading to recurrent bone fractures and scoliosis, providing first evidence that CBFA1 may help maintain adult bone, in addition to its function in bone development. 10521292

1999

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. 10521292

1999

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. 9182764

1997

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation LHGDN A novel missense mutation in the RUNT-domain (P210S) of RUNX2 was identified in 3 Japanese cleidocranial dysplasia siblings; they showed a wide variation in the number and position of supernumerary teeth 17973689

2008

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE RUNX2 (OMIM 600211), the responsible gene for CCD, is considered to be a master gene for bone development and bone homeostasis. 16222673

2006

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD. 9207800

1997

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 CausalMutation CLINVAR We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder. 9182765

1997

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation. 17973689

2008

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 CausalMutation CLINVAR To correlate CBFA1 mutations in different functional domains with the CCD clinical spectrum, we studied 26 independent cases of CCD and a total of 16 new mutations were identified in 17 families. 10545612

1999

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

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker MGD Runx2 deficiency in mice causes decreased thyroglobulin expression and hypothyroidism. 20375239

2010

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE The current findings suggest a correlation between dental alterations and mutations in the runt domain of RUNX2 in CCD patients. 22023169

2012

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 Biomarker BEFREE Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT Overall, these results suggest that CCD could result from much smaller losses in the RUNX2 function than has been envisioned on the basis of the conventional haploinsufficiency model. 12196916

2002

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. 12196916

2002

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation LHGDN A novel RUNX2 missense mutation has been found in members of a family clinically diagnosed with cleidocranial dysplasia. 16244783

2006

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 CausalMutation CLINVAR Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation UNIPROT We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. 10521292

1999

Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
1.000 GeneticVariation BEFREE Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2018