Disease Term Disease ID Gene Symbol Classification References Source
GLOBAL DEVELOPMENTAL DELAY LRIG2 Causal Disgenet
LRP1 Causal Disgenet
LRRC32 Causal Disgenet
LSM1 Causal Disgenet
MECP2 Causal Disgenet
MED13L Causal Disgenet
MFF Causal Disgenet
MFN2 Causal Disgenet
MGAT2 Causal Disgenet
MKS1 Causal Disgenet
MORC2 Causal Disgenet
MSL3 Causal Disgenet
MTHFR Causal Disgenet
MTO1 Causal Disgenet
MTSS2 Causal Disgenet
MYO5A Causal Disgenet
NAA15 Causal Disgenet
NCKAP1 Causal Disgenet
NDST1 Causal Disgenet
NIPBL Causal Disgenet
NSD2 Causal Disgenet
NTNG2 Causal Disgenet
NUP107 Causal Disgenet
PACS1 Causal Disgenet
PCGF2 Causal Disgenet
PDE10A Causal Disgenet
PIGC Causal Disgenet
PIGQ Causal Disgenet
PIGT Causal Disgenet
PIK3CA Causal Disgenet
PLA2G6 Causal Disgenet
PNKP Causal Disgenet
PNPT1 Causal Disgenet
POGZ Causal Disgenet
POLG Causal Disgenet
PORCN Causal Disgenet
PPP2R5C Causal Disgenet
PTEN Causal Disgenet
PTPN11 Causal Disgenet
PTPN23 Causal Disgenet
PTRH2 Causal Disgenet
PURA Causal Disgenet
RAC1 Causal Disgenet
RBM8A Causal Disgenet
RLIM Causal Disgenet
RPE65 Causal Disgenet
SCN1A Causal Disgenet
SCN2A Causal Disgenet
SCN8A Causal Disgenet
SETD5 Causal Disgenet