Leukodystrophie mit Hypomyelinisierung (HLD)
AIMP1,
AIMP2,
CLDN11,
CNP,
DEGS1,
EPRS1,
GJC2,
HIKESHI,
HSPD1,
HYCC1,
PLP1,
POLR1C,
POLR3A,
POLR3B,
POLR3K,
PYCR2,
RARS1,
TMEM106B,
TMEM63A,
TUBB4A,
UFM1,
VPS11
Leukodystrophie mit Peroxisomenbiogenesestörung (PBD)
PEX1,
PEX10,
PEX11B,
PEX12,
PEX13,
PEX14,
PEX16,
PEX19,
PEX2,
PEX26,
PEX3,
PEX5,
PEX6,
PEX7,
PHYH
Orthochromatische Leukodystrophie
ASPA,
CSF1R,
EIF2B1,
EIF2B2,
EIF2B3,
EIF2B4,
EIF2B5,
GFAP,
HEPACAM,
MLC1
Metachromatische Leukodystrophie
ARSA,
PSAP,
SUMF1
Aicardi-Goutières-Syndrom (AGS)
ADAR,
IFIH1,
RNASEH2A,
RNASEH2B,
RNASEH2C,
SAMHD1,
TREX1
CADASIL, CARASIL
HTRA1,
NOTCH3
Gesamte Genliste
AARS2, ABCD1, ACBD5, ACER3, ACOX1, ADAR, AIFM1, AIMP1, AIMP2, ALDH3A2, ARSA, ASPA, AUH, BOLA3, CLCN2, CLDN11, CNP, COA7, COA8, COL4A1, COL4A2, COX15, COX6B1, CSF1R, CTC1, CYP27A1, D2HGDH, DARS1, DARS2, DEGS1, EARS2, EIF2AK1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, FA2H, FDX2, FOLR1, FOXRED1, FUCA1, GALC, GBE1, GCDH, GFAP, GFM1, GJC2, GLB1, HEPACAM, HIKESHI, HMGCL, HSD17B4, HSPD1, HTRA1, HYCC1, IBA57, IFIH1, ISCA1, ISCA2, KARS1, KCNT1, L2HGDH, LMNB1, LYRM7, MARS2, MCOLN1, MLC1, MTFMT, NAXD, NAXE, NFU1, NKX6-2, NOTCH3, NUBPL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PLAA, PLEKHG2, PLP1, PMPCB, POLR1C, POLR3A, POLR3B, POLR3K, PSAP, PYCR2, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHAF1, SLC13A3, SLC16A2, SLC17A5, SOX10, SPTAN1, STN1, SUMF1, TMEM106B, TMEM63A, TREM2, TREX1, TUBB4A, TYMP, TYROBP, UFM1, VPS11, ZFYVE26
HPO Terms
White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes, White matter changes
