Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
Q9UBP0 spastin Cellular structure 138 0.579 0.577 1.00 0.200 None 1.000 14 3 1998 2018
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
O75881 cytochrome P450 family 7 subfamily B member 1 Enzyme 141 0.563 0.692 3.3E-06 0.120 None 1.000 13 10 1998 2016
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
Q12840 kinesin family member 5A Cellular structure 112 0.593 0.731 1.00 0.190 None 1.000 12 6 2001 2018
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.180 None 1.000 8 0 2007 2019
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.110 None 1.000 8 10 1994 2010
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.110 None 1.000 8 13 2000 2013
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.110 None 1.000 5 10 1981 2016
Entrez Id: 23111
Gene Symbol: SPART
SPART
Q8N0X7 spartin 110 0.588 0.654 3.0E-07 0.150 None 1.000 5 0 2010 2017
Entrez Id: 80821
Gene Symbol: DDHD1
DDHD1
Q8NEL9 DDHD domain containing 1 Enzyme 38 0.716 0.423 0.90 0.140 None 1.000 4 0 2007 2018
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.140 None 1.000 4 0 1998 2019
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.110 None 1.000 4 3 2004 2010
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
Q8WXF7 atlastin GTPase 1 Enzyme modulator 112 0.593 0.654 0.98 0.140 None 1.000 4 2 2004 2019
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.430 None 1.000 3 2 1998 2013
Entrez Id: 1130
Gene Symbol: LYST
LYST
Q99698 lysosomal trafficking regulator 114 0.621 0.692 1.5E-02 0.310 None 1.000 3 0 2014 2014
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
Q7Z449 cytochrome P450 family 2 subfamily U member 1 34 0.722 0.462 1.4E-03 0.130 None 1.000 3 3 2016 2017
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
Q9H902 receptor accessory protein 1 Transporter 79 0.653 0.423 0.99 0.130 None 1.000 3 3 2013 2018
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.020 None 1.000 2 0 1996 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.020 None 1.000 2 0 2007 2010
Entrez Id: 57760
Gene Symbol: SPG16
SPG16
spastic paraplegia 16 (complicated, X-linked recessive) 18 0.722 0.423 0.020 None 1.000 2 0 1996 2017
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.310 None 1.000 2 0 2001 2011
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.110 None 1.000 2 2 2014 2016
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.020 None 1.000 2 0 1997 2016
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.120 None 1.000 2 1 2011 2012
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
Q01433 adenosine monophosphate deaminase 2 Enzyme 60 0.663 0.577 4.5E-07 0.120 None 1.000 2 0 2018 2019
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 1.000 2 1 1999 2017