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: 10939
Gene Symbol: AFG3L2
AFG3L2
Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.310 None 1.000 2 0 2011 2015
Entrez Id: 373156
Gene Symbol: GSTK1
GSTK1
Q9Y2Q3 glutathione S-transferase kappa 1 445 0.412 0.885 1.9E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.300 None 1.000 1 0 2015 2015
Entrez Id: 25814
Gene Symbol: ATXN10
ATXN10
Q9UBB4 ataxin 10 69 0.650 0.385 3.5E-04 0.010 None 1.000 1 0 2016 2016
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.300 None 1.000 1 0 2015 2015
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
Q9NWW5 CLN6 transmembrane ER protein 59 0.670 0.231 1.0E-04 0.300 None 1.000 1 0 2015 2015
Entrez Id: 56978
Gene Symbol: PRDM8
PRDM8
Q9NQV8 PR/SET domain 8 39 0.678 0.462 0.78 0.300 None 0 0
Entrez Id: 65125
Gene Symbol: WNK1
WNK1
Q9H4A3 WNK lysine deficient protein kinase 1 Kinase 460 0.416 0.846 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 64689
Gene Symbol: GORASP1
GORASP1
Q9BQQ3 golgi reassembly stacking protein 1 369 0.428 0.846 2.0E-02 0.010 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 1.000 17 0 1996 2016
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
Q99574 serpin family I member 1 Enzyme modulator 58 0.631 0.462 2.7E-02 0.300 None 1.000 1 0 2015 2015
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
Q99519 neuraminidase 1 Enzyme 207 0.513 0.769 7.3E-05 0.300 None 1.000 1 0 2015 2015
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.040 None 1.000 4 0 2001 2017
Entrez Id: 26762
Gene Symbol: HAVCR1
HAVCR1
Q96D42 hepatitis A virus cellular receptor 1 217 0.489 0.885 8.5E-07 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
Q92915 fibroblast growth factor 14 Signaling 90 0.619 0.692 0.91 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.010 None 1.000 1 0 2000 2000
Entrez Id: 6248
Gene Symbol: RSC1A1
RSC1A1
Q92681 regulator of solute carriers 1 14 0.751 0.308 2.3E-13 0.020 None 1.000 2 0 2019 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.300 None 1.000 1 0 2007 2007
Entrez Id: 57338
Gene Symbol: JPH3
JPH3
Q8WXH2 junctophilin 3 90 0.608 0.538 1.00 0.040 None 1.000 4 0 2008 2013
Entrez Id: 133482
Gene Symbol: SLCO6A1
SLCO6A1
Q86UG4 solute carrier organic anion transporter family member 6A1 Transporter 449 0.412 0.885 2.9E-11 0.010 None 1.000 1 0 2018 2018
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1
Q6VVB1 NHL repeat containing E3 ubiquitin protein ligase 1 56 0.656 0.423 9.4E-02 0.300 None 1.000 1 0 2015 2015
Entrez Id: 25894
Gene Symbol: PLEKHG4
PLEKHG4
Q58EX7 pleckstrin homology and RhoGEF domain containing G4 23 0.769 0.154 1.1E-16 0.010 None 1.000 1 0 1996 1996
Entrez Id: 146227
Gene Symbol: BEAN1
BEAN1
Q3B7T3 brain expressed associated with NEDD4 1 35 0.705 0.385 6.8E-06 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
Q16665 hypoxia inducible factor 1 subunit alpha Transcription factor 1044 0.327 0.923 0.98 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2395
Gene Symbol: FXN
FXN
Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.030 None 1.000 3 0 1996 2019