Disease Term Disease ID Gene Symbol Classification References Source
COACH SYNDROME OFD1 Causal Disgenet
CC2D2A Unknown Disgenet
INPP5E Unknown Disgenet
RPGRIP1L Unknown Disgenet
TMEM67 Unknown CTD Disgenet
COACH SYNDROME 1 CC2D2A Causal ClinVar Disgenet
RPGRIP1L Causal Disgenet
TMEM67 Causal CTD ClinVar Disgenet GenCC HPO
INPP5E Unknown Disgenet
COACH SYNDROME 2 CC2D2A Causal ClinVar Disgenet HPO
COACH SYNDROME 3 RPGRIP1L Causal ClinVar Disgenet HPO