Disease Term Disease ID Gene Symbol Classification References Source
Barber Say syndrome C1319466 TWIST2 Causal Pathogenic evidence from ClinVar 26119818 ClinVar
GP1BA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21357716 -
GP1BB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21357716 -
GP9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21357716 -
Barber-Say syndrome 1231 TWIST2 Causal Pathogenic evidence from ClinVar - ClinVar