RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Disease: Cleft lip or lips ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.030 Biomarker phenotype BEFREE Four RUNX2 SNPs in 142 Korean NS-CL±P families (nine cleft lip, 26 cleft lip and alveolus, and 107 cleft lip and palate; 76 trios and 66 dyads) were genotyped. 23909516 2014
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.030 GeneticVariation phenotype BEFREE Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate. 22241686 2012
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.030 GeneticVariation phenotype BEFREE Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. 11459326 2001