Disease Term Disease ID Gene Symbol Classification References Source
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate C1845146 FGFR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12627230, 23812909, 24888332, 25394172, 25759380, 27363716 -