Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT RUNX2 mutations in cleidocranial dysplasia patients. 19744171

2010

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. 16270353

2006

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999

dbSNP: rs104893991
rs104893991
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
0.820 GeneticVariation UNIPROT Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 12424590

2002

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. 12081718

2002

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. 20082269

2010

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018

dbSNP: rs104893991
rs104893991
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
0.820 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549

2000

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765

1997

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017

dbSNP: rs104893991
rs104893991
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
0.820 GeneticVariation UNIPROT PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. 10689183

2000

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. 20648631

2010

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999

dbSNP: rs104893991
rs104893991
0.820 GeneticVariation UNIPROT Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. 11857736

2002

dbSNP: rs104893991
rs104893991
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
0.820 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017

dbSNP: rs104893991
rs104893991
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
A 0.820 CausalMutation CLINVAR

dbSNP: rs104893990
rs104893990
0.810 GeneticVariation UNIPROT A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. 20082269

2010

dbSNP: rs104893990
rs104893990
0.810 GeneticVariation UNIPROT Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. 12196916

2002

dbSNP: rs104893990
rs104893990
A 0.810 CausalMutation CLINVAR

dbSNP: rs104893990
rs104893990
0.810 GeneticVariation UNIPROT Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. 11857736

2002