Disease Term Disease ID Gene Symbol References
De Toni-Debre-Fanconi Syndrome C1857395 EHHADH
GPX3 9851889
SLC2A2 11810292
SLC34A1
FANCONI RENOTUBULAR SYNDROME 3 C3810100 EHHADH 24401050
FANCONI RENOTUBULAR SYNDROME 1 C4551503 EHHADH 24401050
SLC34A1 20335586
FANCONI RENOTUBULAR SYNDROME 2 C3150652 SLC34A1 20335586
Adult Fanconi syndrome C0341703 BCS1L
CLCNKB
COX6B1
COX8A
COX10
CTNS
EHHADH 24401050
FAH
GPX3 9851889
HNF4A
TRNN
TRNS1
OCRL
SCO1
SLC2A2 11810292
SLC12A3
SLC34A1 20335586
HNF1B
FASTKD2
TACO1
COA8
COX14
COX20
PET100
Fanconi Syndrome C0015624 EHHADH
GPX3 9851889
SLC2A2 11810292
SLC34A1
XPR1 27799484
Primary Fanconi renotubular syndrome 3337 EHHADH
GATM
SLC34A1
NDUFAF6