Disease Term Disease ID Gene Symbol Classification References Source
LEUKODYSTROPHY ALMS1 Causal Disgenet
ARSA Causal Disgenet
DEGS1 Causal Disgenet
ERCC2 Causal Disgenet
HEXA Causal Disgenet
HSPD1 Causal Disgenet
LSM7 Causal Disgenet
POLR3A Causal Disgenet
PYCR2 Causal Disgenet
RARS1 Causal Disgenet
RNF216 Causal Disgenet
TMEM63A Causal Disgenet
U2AF2 Causal Disgenet
AARS1 Unknown Disgenet
AIFM1 Unknown Disgenet
GALC Unknown Disgenet
KARS1 Unknown Disgenet
NOTCH1 Unknown Disgenet
PEX6 Unknown Disgenet
POLR3B Unknown Disgenet
RAB33A Unknown Disgenet
SCP2 Unknown Disgenet
SLC9A6 Unknown Disgenet
TMEM163 Unknown HPO
TOMM70 Unknown CTD
VPS18 Unknown Disgenet