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: 647275
Gene Symbol: PNPP1
PNPP1
PNP pseudogene 1 2 1.000 0.077 0.010 None 1.000 1 0 2007 2007
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.010 None 1.000 1 0 2003 2003
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
Q8N159 N-acetylglutamate synthase 58 0.716 0.423 4.0E-08 0.100 None 0 0
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1
Q7RTP0 NIPA magnesium transporter 1 Transporter 50 0.682 0.462 5.9E-03 0.010 None 1.000 1 0 2007 2007
Entrez Id: 22948
Gene Symbol: CCT5
CCT5
P48643 chaperonin containing TCP1 subunit 5 Chaperone 50 0.663 0.462 1.00 0.010 None 1.000 1 0 2006 2006
Entrez Id: 51324
Gene Symbol: SPG21
SPG21
Q9NZD8 SPG21 abhydrolase domain containing, maspardin 46 0.695 0.500 6.6E-04 0.010 None 1.000 1 0 2003 2003
Entrez Id: 3431
Gene Symbol: SP110
SP110
Q9HB58 SP110 nuclear body protein 65 0.656 0.500 1.5E-14 0.100 None 0 0
Entrez Id: 5534
Gene Symbol: PPP3R1
PPP3R1
P63098 protein phosphatase 3 regulatory subunit B, alpha 33 0.682 0.538 0.41 0.010 None 1.000 1 0 2019 2019
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.010 None 1.000 1 0 2011 2011
Entrez Id: 285025
Gene Symbol: CCDC141
CCDC141
Q6ZP82 coiled-coil domain containing 141 61 0.666 0.538 1.6E-33 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
Q9UBP0 spastin Cellular structure 138 0.579 0.577 1.00 0.150 None 1.000 5 0 2002 2012
Entrez Id: 150468
Gene Symbol: CKAP2L
CKAP2L
Q8IYA6 cytoskeleton associated protein 2 like 66 0.666 0.577 1.6E-04 0.100 None 0 0
Entrez Id: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 83 0.593 0.615 0.020 None 1.000 2 0 2018 2018
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.010 None 1.000 1 0 2008 2008
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
Q96L58 beta-1,3-galactosyltransferase 6 100 0.631 0.615 2.3E-02 0.100 None 0 0
Entrez Id: 23767
Gene Symbol: FLRT3
FLRT3
Q9NZU0 fibronectin leucine rich transmembrane protein 3 63 0.659 0.615 0.22 0.100 None 0 0
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
Q8WXF7 atlastin GTPase 1 Enzyme modulator 112 0.593 0.654 0.98 0.120 None 1.000 2 0 2004 2016
Entrez Id: 389549
Gene Symbol: FEZF1
FEZF1
A0PJY2 FEZ family zinc finger 1 73 0.628 0.654 0.95 0.100 None 0 0
Entrez Id: 54756
Gene Symbol: IL17RD
IL17RD
Q8NFM7 interleukin 17 receptor D 82 0.617 0.654 1.1E-06 0.100 None 0 0
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
Q9UBX0 HESX homeobox 1 143 0.561 0.654 8.0E-04 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 26012
Gene Symbol: NSMF
NSMF
Q6X4W1 NMDA receptor synaptonuclear signaling and neuronal migration factor 91 0.606 0.692 0.26 0.100 None 0 0
Entrez Id: 8822
Gene Symbol: FGF17
FGF17
O60258 fibroblast growth factor 17 Signaling 105 0.593 0.692 0.96 0.100 None 0 0
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 0.100 None 0 0
Entrez Id: 57486
Gene Symbol: NLN
NLN
Q9BYT8 neurolysin Enzyme 74 0.597 0.731 3.9E-12 0.020 None 1.000 2 0 2017 2018