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: 6687
Gene Symbol: SPG7
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.430 None 1.000 3 2 1998 2013
Entrez Id: 23204
Gene Symbol: ARL6IP1
ARL6IP1
ADP ribosylation factor like GTPase 6 interacting protein 1 0.653 0.577 2.2E-02
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.410 moderate 1.000 1 0 2018 2018
Entrez Id: 57599
Gene Symbol: WDR48
WDR48
WD repeat domain 48 0.628 0.615 1.00
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.400 moderate 1.000 1 0 2014 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.400 None 1.000 1 0 2016 2016
Entrez Id: 1130
Gene Symbol: LYST
LYST
lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.310 None 1.000 3 0 2014 2014
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
GTP cyclohydrolase 1 0.511 0.846 0.90
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.310 None 1.000 2 0 2001 2011
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
kinesin light chain 4 0.743 0.308 1.2E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.310 limited 1.000 1 0 2015 2015
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.601 0.692 6.1E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2 0.584 0.769 0.99
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.300 limited 1.000 1 0 2014 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.200 None 1.000 14 3 1998 2018
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
kinesin family member 5A 0.593 0.731 1.00
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.190 None 1.000 12 6 2001 2018
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.180 None 1.000 8 0 2007 2019
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.588 0.654 3.0E-07
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.150 None 1.000 5 0 2010 2017
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
atlastin GTPase 1 0.593 0.654 0.98
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.140 None 1.000 4 2 2004 2019
Entrez Id: 80821
Gene Symbol: DDHD1
DDHD1
DDHD domain containing 1 0.716 0.423 0.90
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.140 None 1.000 4 0 2007 2018
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.543 0.769 0.93
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.140 None 1.000 4 0 1998 2019
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
receptor accessory protein 1 0.653 0.423 0.99
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.130 None 1.000 3 3 2013 2018
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
cytochrome P450 family 2 subfamily U member 1 0.722 0.462 1.4E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.130 None 1.000 3 3 2016 2017
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
cytochrome P450 family 7 subfamily B member 1 0.563 0.692 3.3E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.120 None 1.000 13 10 1998 2016
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1
NIPA magnesium transporter 1 0.682 0.462 5.9E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.120 None 1.000 2 1 2004 2006
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
patatin like phospholipase domain containing 6 0.533 0.769 1.9E-13
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.120 None 1.000 2 0 2015 2019
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.120 None 1.000 2 0 2018 2019
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
adaptor related protein complex 4 subunit beta 1 0.631 0.654 1.3E-09
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.120 None 1.000 2 0 2012 2019
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.120 None 1.000 2 1 2011 2012
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
glucosylceramidase beta 2 0.636 0.654 2.0E-20
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.120 None 1.000 2 1 2015 2018