Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Leukoencephalopathies CSF1R group C0270612 GeneticVariation 0.5 orphanet , disgenet
Leukoencephalopathies CSF1R group C0270612 Biomarker 0.5 orphanet , disgenet
Leukoencephalopathies COL4A1 group C0270612 Biomarker 0.48 orphanet , disgenet
Leukoencephalopathies COL4A1 group C0270612 GeneticVariation 0.48 orphanet , disgenet
Leukoencephalopathies TYMP group C0270612 AlteredExpression 0.42 disgenet
Leukoencephalopathies TYMP group C0270612 GeneticVariation 0.42 disgenet
Leukoencephalopathies TYMP group C0270612 Biomarker 0.42 disgenet
Leukoencephalopathies SCP2 group C0270612 Biomarker 0.4 orphanet , disgenet
Leukoencephalopathies MTHFR group C0270612 Biomarker 0.3 disgenet
Leukoencephalopathies APP group C0270612 Biomarker 0.3 disgenet
Leukoencephalopathies TCN2 group C0270612 Biomarker 0.3 disgenet
Leukoencephalopathies RHOA group C0270612 Biomarker 0.3 disgenet
Leukoencephalopathies DPYD group C0270612 Biomarker 0.3 disgenet
Leukoencephalopathies MTR group C0270612 Biomarker 0.3 disgenet
Leukoencephalopathies SPP1 group C0270612 Biomarker 0.3 disgenet
Leukoencephalopathies NOTCH3 group C0270612 GeneticVariation 0.2 disgenet
Leukoencephalopathies NOTCH3 group C0270612 Biomarker 0.2 disgenet
Leukoencephalopathies BDNF group C0270612 Therapeutic 0.2 disgenet
Leukoencephalopathies CDKN1B group C0270612 Therapeutic 0.2 disgenet
Leukoencephalopathies DARS2 group C0270612 GeneticVariation 0.2 orphanet , disgenet
Leukoencephalopathies DARS2 group C0270612 Biomarker 0.2 orphanet , disgenet
Leukoencephalopathies EIF2B2 group C0270612 GeneticVariation 0.18 disgenet
Leukoencephalopathies EIF2B2 group C0270612 Biomarker 0.18 disgenet
Leukoencephalopathies EIF2B1 group C0270612 Biomarker 0.17 disgenet
Leukoencephalopathies EIF2B1 group C0270612 GeneticVariation 0.17 disgenet
Leukoencephalopathies EIF2B4 group C0270612 GeneticVariation 0.16 disgenet
Leukoencephalopathies EIF2B4 group C0270612 Biomarker 0.16 disgenet
Leukoencephalopathies CLCN2 group C0270612 Biomarker 0.15 orphanet , disgenet
Leukoencephalopathies CLCN2 group C0270612 AlteredExpression 0.15 orphanet , disgenet
Leukoencephalopathies CLCN2 group C0270612 GeneticVariation 0.15 orphanet , disgenet
Leukoencephalopathies EIF2B5 group C0270612 Biomarker 0.13 disgenet
Leukoencephalopathies POLG group C0270612 GeneticVariation 0.13 disgenet
Leukoencephalopathies DARS1 group C0270612 GeneticVariation 0.13 disgenet
Leukoencephalopathies POLG group C0270612 Biomarker 0.13 disgenet
Leukoencephalopathies EIF2B5 group C0270612 GeneticVariation 0.13 disgenet
Leukoencephalopathies DARS1 group C0270612 Biomarker 0.13 disgenet
Leukoencephalopathies RPIA group C0270612 GeneticVariation 0.12 disgenet
Leukoencephalopathies SNORD118 group C0270612 Biomarker 0.12 orphanet , disgenet
Leukoencephalopathies SNORD118 group C0270612 GeneticVariation 0.12 orphanet , disgenet
Leukoencephalopathies RPIA group C0270612 Biomarker 0.12 disgenet
Leukoencephalopathies GJC2 group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies TYROBP group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies NDUFV1 group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies CLN6 group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies NAXE group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies NDUFV1 group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies NDUFAF3 group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies GJC2 group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies CLN6 group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies L2HGDH group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies VPS11 group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies NUBPL group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies HTRA1 group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies EARS2 group C0270612 Biomarker 0.11 orphanet , disgenet
Leukoencephalopathies HTRA1 group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies L2HGDH group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies NAXE group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies VPS11 group C0270612 CausalMutation 0.11 disgenet
Leukoencephalopathies PLAA group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies NUBPL group C0270612 CausalMutation 0.11 disgenet
Leukoencephalopathies NUBPL group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies COA8 group C0270612 GeneticVariation 0.11 orphanet , disgenet
Leukoencephalopathies TYROBP group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies COA8 group C0270612 Biomarker 0.11 orphanet , disgenet
Leukoencephalopathies NDUFS1 group C0270612 Biomarker 0.11 disgenet
Leukoencephalopathies NDUFS1 group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies NDUFAF3 group C0270612 GeneticVariation 0.11 disgenet
Leukoencephalopathies TMEM70 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies HIBCH group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies TRNN group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies TACO1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies COX14 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFB3 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies FOXRED1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies CTC1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NFE2L2 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies ND2 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFS3 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies TREX1 group C0270612 Biomarker 0.1 orphanet , disgenet
Leukoencephalopathies LAMB1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFB9 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFAF4 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFAF5 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFS2 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies PET100 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies COX10 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFAF1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies AIFM1 group C0270612 Biomarker 0.1 orphanet , disgenet
Leukoencephalopathies RRM2B group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies KMT2E group C0270612 GeneticVariation 0.1 disgenet
Leukoencephalopathies ND3 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies YME1L1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFA1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFB11 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies SAMHD1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies MRPS22 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies MARS2 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies PMPCB group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies COX8A group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFS4 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies SCO1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies COX20 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies HMGCL group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies SCN8A group C0270612 GeneticVariation 0.1 disgenet
Leukoencephalopathies TRNS1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFAF2 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies ND1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies AUH group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies COX6B1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies EIF2B3 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFV2 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFS8 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies FASTKD2 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies COLGALT1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies TIMMDC1 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFA11 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies TMEM126B group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFA6 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFS7 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFS6 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies NDUFB10 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies B3GALNT2 group C0270612 Biomarker 0.1 disgenet
Leukoencephalopathies AARS2 group C0270612 GeneticVariation 0.08 disgenet
Leukoencephalopathies AARS2 group C0270612 Biomarker 0.08 disgenet
Leukoencephalopathies MLC1 group C0270612 GeneticVariation 0.07 disgenet
Leukoencephalopathies MLC1 group C0270612 AlteredExpression 0.07 disgenet
Leukoencephalopathies MLC1 group C0270612 Biomarker 0.07 disgenet
Leukoencephalopathies EIF2S2 group C0270612 GeneticVariation 0.06 disgenet
Leukoencephalopathies EIF2S2 group C0270612 Biomarker 0.06 disgenet
Leukoencephalopathies RNASET2 group C0270612 Biomarker 0.05 orphanet , disgenet
Leukoencephalopathies RNASET2 group C0270612 GeneticVariation 0.05 orphanet , disgenet
Leukoencephalopathies SDHAF1 group C0270612 GeneticVariation 0.05 disgenet
Leukoencephalopathies HEPACAM group C0270612 GeneticVariation 0.05 disgenet
Leukoencephalopathies HEPACAM group C0270612 AlteredExpression 0.05 disgenet
Leukoencephalopathies HEPACAM group C0270612 Biomarker 0.05 disgenet
Leukoencephalopathies TUBB4A group C0270612 GeneticVariation 0.03 disgenet
Leukoencephalopathies TUBB4A group C0270612 Biomarker 0.03 disgenet
Leukoencephalopathies LGALS14 group C0270612 AlteredExpression 0.03 disgenet
Leukoencephalopathies LGALS14 group C0270612 Biomarker 0.03 disgenet
Leukoencephalopathies ABCB6 group C0270612 Biomarker 0.03 disgenet
Leukoencephalopathies GFAP group C0270612 GeneticVariation 0.03 disgenet
Leukoencephalopathies KCNT1 group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies LAMA2 group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies PSEN1 group C0270612 Biomarker 0.02 disgenet
Leukoencephalopathies KARS1 group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies PSEN1 group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies DEAF1 group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies APOE group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies ISCA2 group C0270612 Biomarker 0.02 disgenet
Leukoencephalopathies NFU1 group C0270612 Biomarker 0.02 disgenet
Leukoencephalopathies COA7 group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies WARS2 group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies CSF2 group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies NFU1 group C0270612 GeneticVariation 0.02 disgenet
Leukoencephalopathies ABCD1 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies PRPS1 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies SDS group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies SURF1 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies SORD group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies IBA57 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies VEGFA group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies SARDH group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies PAFAH1B1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies MOG group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies RMND1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies SLC2A1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies PTGS2 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies HMBS group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies SLC5A8 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies CLCN1 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies EIF2S3 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies KIF5A group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies TUFM group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies MS group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies MYL2 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies SLC26A5 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies SLC2A4RG group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies EIF2S1 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies AARS1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies GLRX5 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies IFNB1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies MTCO2P12 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies MYL9 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies FIG4 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies DEGS1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies MANBA group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies COL4A2 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies LYRM7 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies MTFMT group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies SZT2 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies IL6 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies JAG1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies GJA1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies MBP group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies MPV17 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies GGCT group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies NDUFB8 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies TLR2 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies ADORA2A group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies DDX59 group C0270612 AlteredExpression 0.01 disgenet
Leukoencephalopathies CST3 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies NOTCH2NLC group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies SLC13A3 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies CUL4B group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies C1QBP group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies SCO2 group C0270612 AlteredExpression 0.01 disgenet
Leukoencephalopathies SLC16A2 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies CCL5 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies EEF1A1 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies EDN1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies COX2 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies GFPT1 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies ACTA2 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies ACBD5 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies POLR3A group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies TREM2 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies POLR3B group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies NDUFA2 group C0270612 GeneticVariation 0.01 orphanet , disgenet
Leukoencephalopathies PLP1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies IFNG group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies SDHB group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies HMGB1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies PDGFB group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies ALDH3A2 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies ARHGEF2 group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies SHANK3 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies HIKESHI group C0270612 GeneticVariation 0.01 disgenet
Leukoencephalopathies NEFL group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies FMR1 group C0270612 Biomarker 0.01 disgenet
Leukoencephalopathies PYCR2 NA C0270612 NA NA orphanet
Leukoencephalopathies CTSA NA C0270612 NA NA orphanet
click here to return to the previous page