Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Low posterior hairline
CUI: C1855728
Disease: Low posterior hairline
0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Branchial anomaly
CUI: C1862066
Disease: Branchial anomaly
0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Atresia of the external auditory canal
CUI: C1866190
Disease: Atresia of the external auditory canal
0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015
Coloboma of optic disc
CUI: C0155299
Disease: Coloboma of optic disc
0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586 2015