Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
0.800 GeneticVariation UNIPROT TFAP2A mutations result in branchio-oculo-facial syndrome. 18423521 2008
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
0.800 CausalMutation CLINVAR
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
0.800 CausalMutation CLINVAR