Disease Term Disease ID Gene Symbol References
Leukoencephalopathy C0270612 APP 20228223
RHOA 31570889
AUH
CLCN2
COL4A1 20385946
COX6B1
COX8A
COX10
CSF1R 22197934
DARS1
DPYD 11148247
TYMP 16178026
EIF2B1
HMGCL
LAMB1
MTHFR 15753437
ND1
ND2
ND3
MTR 15753437
TRNN
TRNS1
NDUFA1
NDUFA6
NDUFB3
NDUFB9
NDUFB10
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS6
NDUFS8
NDUFV2
NFE2L2
NOTCH3
POLG
HTRA1
SCN8A
SCO1
SCP2 16685654
SPP1 11868353
TCN2 15753437
TYROBP
EIF2B4
EIF2B3
EIF2B2
EIF2B5
AIFM1
PLAA
PMPCB
YME1L1
TREX1
FASTKD2
RPIA
NDUFAF3
SAMHD1
HIBCH
NDUFAF4
RRM2B
NDUFAF1
TACO1
TIMMDC1
NDUFB11
TMEM70
CLN6
DARS2
FOXRED1
VPS11
TMEM126B
KMT2E
MRPS22
GJC2
NDUFAF5
COLGALT1
L2HGDH
CTC1
NUBPL
COA8
COX14
NDUFAF2
MARS2
COX20
EARS2
NDUFA11
NAXE
B3GALNT2
NDUFS7
SNORD118
PET100
Posterior reversible encephalopathy syndrome C3160858 TGFB1 29483653