Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
chloride voltage-gated channel 2 0.663 0.379 4.0E-12
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.530 strong 1.000 0 0 2014 2018
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
RNA polymerase III subunit B 0.624 0.517 3.4E-21
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.490 strong 0.889 0 0 2012 2018
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.676 0.448 1.6E-23
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.480 strong 0.875 0 0 2011 2017
Entrez Id: 4001
Gene Symbol: LMNB1
LMNB1
lamin B1 0.598 0.586 0.57
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.480 strong 1.000 0 0 2006 2015
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
gap junction protein gamma 2 0.619 0.517 1.0E-02
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.440 strong 1.000 0 0 2011 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.580 0.621 0.42
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.440 strong 1.000 0 0 2007 2015
Entrez Id: 2581
Gene Symbol: GALC
GALC
galactosylceramidase 0.648 0.448 3.1E-15
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.420 strong 1.000 0 0 2001 2017
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
heat shock protein family D (Hsp60) member 1 0.481 0.793 0.99
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.420 strong 1.000 0 0 2015 2017
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
solute carrier family 16 member 2 0.619 0.448 0.99
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.420 strong 1.000 0 0 2009 2016
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
RNA polymerase I and III subunit C 0.681 0.448 1.1E-09
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.410 strong 1.000 0 0 2016 2016
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
NADH:ubiquinone oxidoreductase core subunit V1 0.616 0.414 3.6E-11
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.410 strong 1.000 0 0 2014 2014
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
apoptosis inducing factor mitochondria associated 1 0.558 0.655 1.00
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 1 0 2017 2017
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
iron-sulfur cluster assembly 2 0.834 0.172 1.1E-06
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 1 0 2018 2018
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
pyrroline-5-carboxylate reductase 2 0.707 0.379 1.3E-06
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 1 0 2017 2017
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
family with sequence similarity 126 member A 0.681 0.379 0.15
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
ribonuclease H2 subunit A 0.696 0.379 3.5E-03
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
NADH:ubiquinone oxidoreductase core subunit S1 0.624 0.517 5.5E-11
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
NADH:ubiquinone oxidoreductase core subunit S2 0.636 0.414 1.8E-03
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
NADH:ubiquinone oxidoreductase subunit S4 0.590 0.586 2.8E-04
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1
NADH:ubiquinone oxidoreductase complex assembly factor 1 0.667 0.379 3.8E-03
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.554 0.655 3.3E-14
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
aminoacyl tRNA synthetase complex interacting multifunctional protein 1 0.611 0.552 2.9E-07
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.645 0.552 7.1E-13
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
eukaryotic translation initiation factor 2B subunit beta 0.701 0.345 1.6E-10
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0.900 0 0 2003 2016
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.547 0.724 1.3E-11
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease 0.400 strong 0 0 2015 2015