Source: GENOMICS_ENGLAND

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, paraplegin matrix AAA peptidase subunit 0.542 0.655 3.3E-35
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.700 strong 1.000 0 0 1999 2018
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
SPG11, spatacsin vesicle trafficking associated 0.586 0.483 6.3E-39
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.700 strong 1.000 0 0 2004 2018
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
cytochrome P450 family 7 subfamily B member 1 0.604 0.517 3.2E-06
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.670 strong 1.000 0 0 2008 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.604 0.517 1.00
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.600 strong 0.981 0 0 2000 2018
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.607 0.552 1.00
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.600 strong 0 0 2016 2016
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
patatin like phospholipase domain containing 6 0.550 0.655 5.9E-13
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.560 strong 1.000 0 0 2008 2016
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
heat shock protein family D (Hsp60) member 1 0.481 0.793 0.99
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.540 strong 1.000 0 0 2002 2013
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.552 5.8E-23
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.540 strong 1.000 0 0 2008 2014
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
DDHD domain containing 2 0.713 0.448 1.1E-10
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.530 strong 1.000 0 0 2013 2018
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.577 0.517 0.93
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.520 strong 1.000 0 0 1995 2017
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.633 0.517 0.13
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.520 strong 1.000 0 0 2010 2011
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2
tectonin beta-propeller repeat containing 2 0.676 0.345 0.83
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.500 limited 2 0 2013 2016
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1
NIPA magnesium transporter 1 0.681 0.379 3.2E-02
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.460 strong 1.000 0 0 2007 2018
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
glucosylceramidase beta 2 0.690 0.448 3.0E-21
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.410 strong 1.000 0 0 2013 2018
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
atlastin GTPase 1 0.614 0.655 0.99
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.400 strong 0.909 1 0 2001 2018
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
ER lipid raft associated 2 0.696 0.448 8.6E-04
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.400 limited 0 0 2018 2018
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
chromosome 19 open reading frame 12 0.667 0.379 0.35
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.400 strong 0 0 2018 2018
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
kinesin family member 5A 0.642 0.483 1.00
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.400 strong 1.000 0 0 2003 2014
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
receptor accessory protein 1 0.707 0.310 0.99
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.380 strong 1.000 0 0 2006 2016
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
WASH complex subunit 5 0.602 0.621
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.340 strong 1.000 0 0 2007 2016
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.645 0.586
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.340 strong 1.000 0 0 2002 2013
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
ALS2, alsin Rho guanine nucleotide exchange factor 0.663 0.310 3.1E-10
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.320 strong 1.000 1 0 2002 2008
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
cytochrome P450 family 2 subfamily U member 1 0.799 0.241 5.1E-03
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.320 strong 1.000 0 0 2017 2017
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1
adaptor related protein complex 5 subunit zeta 1 0.672 0.345 2.3E-30
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.320 limited 0.500 0 0 2010 2016
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.500 0.655 1.00
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease 0.310 strong 1.000 1 0 1994 2013