Disease Term Disease ID Gene Symbol Classification References Source
ANENCEPHALY CC2D2A Causal Disgenet
PUS3 Causal Disgenet
TRIM36 Causal CTD Disgenet
HYLS1 Unknown Disgenet
MTHFR Unknown Disgenet
MTRR Unknown Disgenet
NUAK2 Unknown Disgenet
RPGRIP1L Unknown Disgenet
VANGL2 Unknown Disgenet
ANENCEPHALY 1 TRIM36 Unknown ClinVar Disgenet HPO
ANENCEPHALY 2 NUAK2 Causal ClinVar Disgenet HPO