Disease Term Disease ID Gene Symbol Classification References Source
FANCONI RENOTUBULAR SYNDROME 1 GATM Causal ClinVar Disgenet GenCC HPO
EHHADH Unknown Disgenet
FANCONI RENOTUBULAR SYNDROME 2 SLC34A1 Causal ClinGen ClinVar Disgenet GWAS catalog HPO
FANCONI RENOTUBULAR SYNDROME 3 EHHADH Unknown CTD ClinGen ClinVar Disgenet HPO
FANCONI RENOTUBULAR SYNDROME 5 NDUFAF6 Causal ClinVar Disgenet GenCC HPO