Source: CLINVAR

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 0 1 1998 2013
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 0 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 4 4 2001 2018
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 0 1 2004 2019
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 0 2 2016 2017
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 0 2 2013 2018
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 11 10 1998 2016
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 0 1 2015 2018
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 0 1 2004 2006
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 0 1 2011 2012
Entrez Id: 26278
Gene Symbol: SACS
SACS
sacsin molecular chaperone 0.606 0.654 1.1E-23
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.110 None 1.000 7 13 2000 2013
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.110 None 1.000 7 10 1994 2010
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.110 None 1.000 4 10 1981 2016
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
gap junction protein gamma 2 0.593 0.692 1.0E-02
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.110 None 1.000 3 3 2004 2010
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.110 None 1.000 1 2 2014 2016
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
vesicle associated membrane protein 1 0.628 0.538 3.9E-03
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.110 None 1.000 0 1 2012 2012
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.110 None 1.000 0 1 2014 2014
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
solute carrier family 16 member 2 0.592 0.577 0.99
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.110 None 1.000 0 1 2014 2014
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
lysine demethylase 5C 0.581 0.538 1.00
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.100 None 1.000 2 2 2012 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.100 None 1.000 2 1 1999 2017
Entrez Id: 339855
Gene Symbol: KY
KY
kyphoscoliosis peptidase 0.736 0.231 1.5E-10
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
EPH receptor B1 0.518 0.846 1.00
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A
family with sequence similarity 126 member A 0.682 0.423 0.12
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.100 None 0 1
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1
cyclin dependent kinase 2 associated protein 1 0.656 0.538 0.45
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.100 None 0 1