Disease Term Disease ID Gene Symbol Classification References Source
Bamforth syndrome C1855794 FOXE1 Causal Pathogenic evidence from ClinVar 9697705, 12165566, 16884476, 20453517, 21177256, 24219130 ClinVar
BCHE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16884476 -
Bamforth-Lazarus syndrome 1226 FOXE1 Causal Pathogenic evidence from ClinVar - ClinVar