RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Disease: Cleidocranial Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881 2018
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335 2017
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation BEFREE Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene. 28056872 2017
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062 2017
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up. 24984680 2014
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation BEFREE On the basis of the structural analysis, this study further demonstrated that the p.R225Q mutation abolished DNA binding by RUNX2 and its results also suggested that other genetic and/or environmental factors could affect the CCD phenotypes. 24634175 2014
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT RUNX2 mutations in cleidocranial dysplasia patients. 19744171 2010
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. 20082269 2010
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. 20648631 2010
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. 16270353 2006
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 12424590 2002
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. 12081718 2002
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. 11857736 2002
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. 12196916 2002
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549 2000
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. 10689183 2000
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612 1999
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292 1999
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800 1997
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.820 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765 1997
dbSNP: rs104893991
rs104893991
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		A 0.820 CausalMutation CLINVAR
dbSNP: rs104893990
rs104893990
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.810 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881 2018
dbSNP: rs104893990
rs104893990
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.810 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335 2017
dbSNP: rs104893990
rs104893990
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.810 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062 2017
dbSNP: rs104893990
rs104893990
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
CUI: C0008928
Disease:
Cleidocranial Dysplasia 		0.810 GeneticVariation UNIPROT A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up. 24984680 2014