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: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 1.000 None 1.000 6 0 1993 2017
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 1.000 None 1.000 5 0 1992 2019
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
early growth response 2 0.547 0.769 0.50
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.940 limited 1.000 3 0 1999 2019
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.514 0.731 0.85
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.630 None 1.000 3 0 1996 2005
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
kinesin family member 1B 0.516 0.808 1.00
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.230 None 1.000 1 0 1997 2010
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
glycyl-tRNA synthetase 1 0.623 0.500 0.31
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 3 0 2006 2011
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
SET binding factor 2 0.619 0.577 6.4E-10
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 2 0 2007 2008
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
myotubularin related protein 2 0.659 0.538 3.0E-07
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 2 0 2004 2005
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 2 0 2007 2012
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
N-myc downstream regulated 1 0.488 0.731 1.1E-02
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 2 0 2004 2011
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
solute carrier family 12 member 6 0.603 0.500 1.1E-02
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 2 0 2002 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 2 0 1999 2002
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
FYVE, RhoGEF and PH domain containing 4 0.678 0.462 9.8E-03
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1
leucine rich repeat and sterile alpha motif containing 1 0.638 0.500 3.1E-13
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 1 0 2013 2013
Entrez Id: 1337
Gene Symbol: COX6A1
COX6A1
cytochrome c oxidase subunit 6A1 0.780 0.154 2.3E-03
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 1 0 2014 2014
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 1 0 2018 2018
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
SH3 domain and tetratricopeptide repeats 2 0.666 0.385 8.3E-16
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 1 0 2009 2009
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 1 0 2018 2018
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
ganglioside induced differentiation associated protein 1 0.612 0.538 3.2E-08
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 1 0 2015 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.488 0.769
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 1.000 1 0 2015 2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 0.200 None 0 0