Source: CURATED

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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.700 None 0.984 3 1 1990 2020
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		ganglioside induced differentiation associated protein 1 0.612 0.538 3.2E-08
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.700 moderate 0.987 0 3 1993 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.700 None 1.000 0 6 1988 2020
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		leucine rich repeat and sterile alpha motif containing 1 0.638 0.500 3.1E-13
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.680 None 0.875 1 2 2010 2019
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.600 None 1.000 1 0 2007 2020
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.430 None 1.000 1 4 2003 2015
Entrez Id: 22880
Gene Symbol: MORC2
MORC2 		MORC family CW-type zinc finger 2 0.626 0.462 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.360 None 1.000 1 0 2016 2019
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		homeobox D10 0.590 0.538 6.3E-02
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.320 None 1.000 1 0 2004 2006
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1 		serine palmitoyltransferase long chain base subunit 1 0.650 0.538 4.2E-11
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.310 strong 1.000 1 0 2004 2018
Entrez Id: 23064
Gene Symbol: SETX
SETX 		senataxin 0.570 0.731 0.95
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46 		solute carrier family 25 member 46 0.695 0.308 1.3E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 9517
Gene Symbol: SPTLC2
SPTLC2 		serine palmitoyltransferase long chain base subunit 2 0.736 0.346 0.78
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.300 strong 1.000 1 0 2010 2010