Disease Term Disease ID Gene Symbol Classification References Source
CRANIOFACIAL MICROSOMIA
MONDO_0015397MONDO:0015397
AGAP1 Unknown GWAS catalog
AMIGO2 Unknown GenCC
ANO1 Unknown GWAS catalog
ARID3B Unknown GWAS catalog
DCAKD Unknown GWAS catalog
EPAS1 Unknown GWAS catalog
FGF3 Unknown GWAS catalog
FRMD4A Unknown GWAS catalog
MYT1 Unknown Disgenet
NID2 Unknown GWAS catalog
NMT1 Unknown GWAS catalog
PARD3B Unknown GWAS catalog
SHROOM3 Unknown GWAS catalog
CRANIOFACIAL MICROSOMIA 1 SF3B2 Causal ClinVar HPO
CRANIOFACIAL MICROSOMIA 2 FOXI3 Causal ClinVar Disgenet GenCC HPO