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: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
Charcot-Marie-Tooth Disease, Type Ib
disease 1.000 None 1.000 87 51 1992 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
Charcot-Marie-Tooth Disease, Type Ib
disease 0.300 None 1.000 3 0 2007 2009
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
Charcot-Marie-Tooth Disease, Type Ib
disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46
solute carrier family 25 member 46 0.695 0.308 1.3E-05
Charcot-Marie-Tooth Disease, Type Ib
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1
leucine rich repeat and sterile alpha motif containing 1 0.638 0.500 3.1E-13
Charcot-Marie-Tooth Disease, Type Ib
disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
Charcot-Marie-Tooth Disease, Type Ib
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10
homeobox D10 0.590 0.538 6.3E-02
Charcot-Marie-Tooth Disease, Type Ib
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 22880
Gene Symbol: MORC2
MORC2
MORC family CW-type zinc finger 2 0.626 0.462 1.00
Charcot-Marie-Tooth Disease, Type Ib
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
SET binding factor 2 0.619 0.577 6.4E-10
Charcot-Marie-Tooth Disease, Type Ib
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
myotubularin related protein 2 0.659 0.538 3.0E-07
Charcot-Marie-Tooth Disease, Type Ib
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 317664
Gene Symbol: DFNA49
DFNA49
deafness, autosomal dominant 49 0.861 0.154
Charcot-Marie-Tooth Disease, Type Ib
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 1689
Gene Symbol: DFNA7
DFNA7
deafness, autosomal dominant 7 0.861 0.154
Charcot-Marie-Tooth Disease, Type Ib
disease 0.010 None 1.000 1 0 2008 2008