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: 54840
Gene Symbol: APTX
APTX
Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.200 None 1.000 15 4 2002 2018
Entrez Id: 23064
Gene Symbol: SETX
SETX
Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.200 None 1.000 12 0 2006 2019
Entrez Id: 23533
Gene Symbol: PIK3R5
PIK3R5
Q8WYR1 phosphoinositide-3-kinase regulatory subunit 5 51 0.700 0.500 0.30 0.110 None 1.000 1 0 2012 2012
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.110 None 1.000 1 0 2017 2017
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
P49959 MRE11 homolog, double strand break repair nuclease 171 0.527 0.808 1.3E-12 0.110 None 1.000 1 2 2011 2011
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
Q9NRR6 inositol polyphosphate-5-phosphatase E 153 0.561 0.615 3.1E-03 0.110 None 1.000 1 0 2016 2016
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.110 None 1.000 1 0 2018 2018
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.110 None 1.000 1 0 2000 2000
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
P18887 X-ray repair cross complementing 1 410 0.421 0.923 6.3E-09 0.110 None 1.000 1 0 2017 2017
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
Q96Q45 transmembrane protein 237 91 0.612 0.538 1.9E-12 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
P11274 BCR activator of RhoGEF and GTPase Enzyme modulator 392 0.431 0.885 0.99 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1
Q92673 sortilin related receptor 1 Transporter 103 0.582 0.692 7.7E-11 0.100 None 0 0
Entrez Id: 6095
Gene Symbol: RORA
RORA
P35398 RAR related orphan receptor A Nuclear receptor 158 0.533 0.808 0.40 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
P28328 peroxisomal biogenesis factor 2 152 0.582 0.654 2.6E-04 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
P28482 mitogen-activated protein kinase 1 Kinase 1059 0.330 0.923 1.00 0.100 None 0 0
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
Q9NQZ6 zinc finger C4H2-type containing 151 0.561 0.731 0.91 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 100 0.636 0.615 1.5E-08 0.100 None 0 0
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
Q69YN2 CWF19 like cell cycle control factor 1 51 0.691 0.346 1.4E-15 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.100 None 0 0
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
P49810 presenilin 2 Enzyme 146 0.550 0.654 5.4E-04 0.100 None 0 0