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 0.506 0.690 0.92
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 6 0 1997 2007
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.535 0.793 0.23
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 3 0 1992 2008
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
early growth response 2 0.579 0.621 0.55
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 3 0 2005 2009
Entrez Id: 2617
Gene Symbol: GARS
GARS
glycyl-tRNA synthetase 0.656 0.276 0.18
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 3 0 2006 2012
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.527 0.621 0.84
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 3 0 1996 1998
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
SET binding factor 2 0.672 0.379 1.4E-09
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 2 0 2007 2008
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
N-myc downstream regulated 1 0.521 0.655 7.7E-03
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 2 0 2004 2011
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
myotubularin related protein 2 0.685 0.345 1.4E-06
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 2 0 2004 2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 2 0 1999 2002
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.561 0.655 3.3E-34
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 2 0 2007 2012
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1
leucine rich repeat and sterile alpha motif containing 1 0.681 0.276 1.1E-12
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 1 0 2013 2013
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
SH3 domain and tetratricopeptide repeats 2 0.672 0.414 4.7E-15
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 1 0 2009 2009
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
ganglioside induced differentiation associated protein 1 0.645 0.310 4.6E-08
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 1 0 2015 2015
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
kinesin family member 1B 0.548 0.586 1.00
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 1 0 2001 2001
Entrez Id: 1337
Gene Symbol: COX6A1
COX6A1
cytochrome c oxidase subunit 6A1 0.762 0.138 2.6E-03
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 1 0 2014 2014
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.577 0.483
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 1 0 2016 2016
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
FYVE, RhoGEF and PH domain containing 4 0.735 0.276 1.4E-02
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
disease 0.200 1 0 2012 2012