Source: ALL

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
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.360 None 0.500 6 1 1992 2006
Entrez Id: 65125
Gene Symbol: WNK1
WNK1 		WNK lysine deficient protein kinase 1 0.416 0.846 1.00
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.340 strong 1.000 4 0 2004 2016
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46 		solute carrier family 25 member 46 0.695 0.308 1.3E-05
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.320 None 1.000 3 0 2015 2019
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.320 None 1.000 3 0 1997 2020
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.310 None 0.750 4 0 2004 2009
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1 		serine palmitoyltransferase long chain base subunit 1 0.650 0.538 4.2E-11
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.310 strong 1.000 3 0 1997 2010
Entrez Id: 22880
Gene Symbol: MORC2
MORC2 		MORC family CW-type zinc finger 2 0.626 0.462 1.00
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.310 None 1.000 2 1 2016 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		kinesin family member 1A 0.559 0.692 1.00
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.300 None 1.000 2 0 2011 2015
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		homeobox D10 0.590 0.538 6.3E-02
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1 		reticulophagy regulator 1 0.623 0.538 6.4E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.300 strong 1.000 1 0 2009 2009
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		leucine rich repeat and sterile alpha motif containing 1 0.638 0.500 3.1E-13
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		mitofusin 2 0.471 0.846 0.99
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.200 None 1.000 83 37 1976 2019
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		glycyl-tRNA synthetase 1 0.623 0.500 0.31
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.140 None 1.000 15 7 1997 2016
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.120 None 1.000 19 6 2004 2016
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.110 None 1.000 4 2 2010 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.100 None 1.000 154 87 1990 2018
Entrez Id: 100534595
Gene Symbol: HNRNPUL2-BSCL2
HNRNPUL2-BSCL2 		HNRNPUL2-BSCL2 readthrough (NMD candidate) 0.780 0.192
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.100 None 1.000 18 6 2004 2016
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		kinesin family member 1B 0.516 0.808 1.00
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.060 None 1.000 6 0 1992 1999
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		heat shock protein family B (small) member 1 0.436 0.808 2.8E-07
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.050 None 1.000 5 0 2011 2018
Entrez Id: 8731
Gene Symbol: RNMT
RNMT 		RNA guanine-7 methyltransferase 0.647 0.500 5.7E-05
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.040 None 0.500 4 0 1992 2006
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.040 None 1.000 4 0 1997 1999
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A 		RAB7A, member RAS oncogene family 0.597 0.692 0.97
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.040 None 1.000 4 0 1997 1999
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3 		heat shock protein family B (small) member 3 0.448 0.769 6.1E-05
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.030 None 1.000 3 1 2015 2018