Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia. 28703881

2018
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia. 28738062

2017
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia. 28505335

2017
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 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: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. 20082269

2010
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT RUNX2 mutations in cleidocranial dysplasia patients. 19744171

2010
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. 20648631

2010
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. 16270353

2006
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 12424590

2002
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. 11857736

2002
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. 12081718

2002
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. 12196916

2002
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia. 10980549

2000
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. 10689183

2000
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 10521292

1999
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 10545612

1999
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 9182765

1997
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		0.800 GeneticVariation UNIPROT Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 9207800

1997
dbSNP: rs104893992
rs104893992
RUNX2
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		T 0.800 CausalMutation CLINVAR