Disease Term Disease ID Gene Symbol Classification References Source
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS POLG Causal CTD ClinVar Disgenet GenCC HPO
TWNK Causal CTD ClinVar Disgenet HPO
FANCI Unknown Disgenet
POLGARF Unknown Disgenet
PRICKLE2 Unknown Disgenet
SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME POLG Unknown Orphanet
TWNK Unknown Orphanet