| Leukodystrophy |
C0023520 |
ABAT
|
|
|
ACOX1
|
|
|
ADAR
|
|
|
ABCD1
|
|
|
ARSA
|
|
|
COL4A1
|
|
|
COX15
|
|
|
CSF1R
|
|
|
DAG1
|
|
|
DARS1
|
|
|
ECHS1
|
|
|
EDNRB
|
|
|
EPRS1
|
|
|
GALC
|
|
|
HSPD1
|
|
|
SP110
|
|
|
LMNB1
|
|
|
ND1
|
|
|
ND2
|
|
|
ND3
|
|
|
NDUFA1
|
|
|
NDUFA2
|
|
|
NDUFA4
|
|
|
NDUFA6
|
|
|
NDUFA9
|
|
|
NDUFA10
|
|
|
NDUFB3
|
|
|
NDUFB8
|
|
|
NDUFB9
|
|
|
NDUFB10
|
|
|
NDUFS1
|
|
|
NDUFS2
|
|
|
NDUFS3
|
|
|
NDUFV1
|
|
|
NDUFS4
|
|
|
NDUFS6
|
|
|
NDUFS8
|
|
|
NDUFV2
|
|
|
PC
|
|
|
PDHA1
|
|
|
PEX1
|
|
|
PSAP
|
|
|
RARS1
|
|
|
SDHA
|
|
|
SLC16A2
|
|
|
SURF1
|
|
|
TUFM
|
|
|
ALMS1
|
|
|
AIMP2
|
|
|
DEGS1
|
31186544 |
|
EIF2B5
|
|
|
AIFM1
|
|
|
AIMP1
|
|
|
PEX16
|
|
|
POLR1C
|
|
|
SCO2
|
|
|
TUBB4A
|
|
|
RNASEH2A
|
|
|
POLR3A
|
|
|
TREX1
|
|
|
NDUFAF3
|
|
|
SAMHD1
|
|
|
FBXL4
|
|
|
SLC17A5
|
|
|
NDUFAF4
|
|
|
PYCR2
|
|
|
NDUFA13
|
|
|
NDUFAF1
|
|
|
TACO1
|
|
|
GLRX5
|
|
|
TIMMDC1
|
|
|
HIKESHI
|
|
|
LIPT1
|
|
|
RNF216
|
|
|
NDUFB11
|
|
|
TMEM106B
|
|
|
ACER3
|
|
|
FOXRED1
|
|
|
POLR3B
|
|
|
TMEM126B
|
|
|
NDUFA12
|
|
|
GJC2
|
|
|
IFIH1
|
|
|
PLEKHG2
|
|
|
NDUFAF5
|
|
|
RNASEH2B
|
|
|
CTC1
|
|
|
SPG11
|
|
|
NUBPL
|
|
|
SLC19A3
|
|
|
ISCA1
|
28356563 |
|
RNASEH2C
|
|
|
NKX6-2
|
|
|
FAM126A
|
|
|
PNPT1
|
|
|
NDUFAF2
|
|
|
ISCA2
|
|
|
MTFMT
|
|
|
NDUFA11
|
|
|
NADK2
|
|
|
NDUFAF6
|
|
|
IBA57
|
|
|
NDUFS7
|
|
|
BOLA3
|
|
|
SNORD118
|
|
|
PET100
|
|
| Late-Onset Globoid Cell Leukodystrophy |
C0268252 |
GALC
|
23319190 |
| Infantile Globoid Cell Leukodystrophy |
C0751273 |
GALC
|
23319190 |
|
PSAP
|
15773042 |
| Leukodystrophy, Hypomyelinating, 4 |
C2677109 |
HSPD1
|
27604308, 30083362, 18571143, 11898127 |
|
POLR3A
|
|
| Adult onset autosomal dominant leukodystrophy |
C3164344 |
LMNB1
|
23649844 |
| Leukodystrophy, Hypomyelinating, 2 |
C1837355 |
PI4KA
|
|
|
SNAP29
|
|
|
GJC2
|
24374284, 18571143, 22669416, 24357685, 15192806, 19056803, 18094336, 25655951 |
| LEUKODYSTROPHY, HYPOMYELINATING, 9 |
C4015323 |
RARS1
|
24777941, 27564080, 28905880 |
| LEUKODYSTROPHY, HYPOMYELINATING, 11 |
C4225305 |
POLR1C
|
26151409, 24357685, 610060 |
| Leukodystrophy, Hypomyelinating, 6 |
C2676244 |
TUBB4A
|
25356970, 25497598, 25085639, 24850488, 23424103, 26643067, 25545912, 28973395, 23582646, 24974158, 26633545, 29451896, 25772097, 24526230, 25168210, 24357685, 24742798, 24785942, 25655951, 24706558 |
| LEUKODYSTROPHY, HYPOMYELINATING, 10 |
C4225332 |
PYCR2
|
27860360, 25865492, 27130255 |
| LEUKODYSTROPHY, HYPOMYELINATING, 13 |
C4225170 |
HIKESHI
|
26545878, 28000699 |
| LEUKODYSTROPHY, HYPOMYELINATING, 12 |
C4225247 |
VPS11
|
27120463, 26307567 |
| Adult-onset autosomal dominant leukodystrophy |
99027 |
LMNB1
|
|
