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: 57338
Gene Symbol: JPH3
JPH3
Q8WXH2 junctophilin 3 90 0.608 0.538 1.00 0.800 limited 1.000 14 1 2001 2020
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
Q9BZ23 pantothenate kinase 2 Kinase 171 0.559 0.808 7.4E-07 0.040 None 1.000 4 0 2005 2018
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
Q00005 protein phosphatase 2 regulatory subunit Bbeta Enzyme 86 0.601 0.577 0.98 0.020 None 1.000 2 0 2006 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7084
Gene Symbol: TK2
TK2
O00142 thymidine kinase 2 Kinase 143 0.585 0.615 3.9E-07 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6908
Gene Symbol: TBP
TBP
P20226 TATA-box binding protein Transcription factor 158 0.552 0.846 1.5E-02 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS
P0DMR3 ATXN8 opposite strand lncRNA 91 0.650 0.423 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 0.010 None 1.000 1 0 2011 2011
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.010 None 1.000 1 0 2016 2016
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4154
Gene Symbol: MBNL1
MBNL1
Q9NR56 muscleblind like splicing regulator 1 Nucleic acid binding 52 0.650 0.615 0.71 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4061
Gene Symbol: LY6E
LY6E
Q16553 lymphocyte antigen 6 family member E 115 0.563 0.808 0.32 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3064
Gene Symbol: HTT
HTT
P42858 huntingtin 188 0.548 0.654 1.00 0.010 None 1.000 1 0 2016 2016
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 2006 2006
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
Q96LT7 C9orf72-SMCR8 complex subunit 258 0.496 0.769 1.1E-06 0.010 None 1.000 1 0 2020 2020
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
P54259 atrophin 1 499 0.409 0.885 1.00 0.010 None 1.000 1 0 2008 2008
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: 10150
Gene Symbol: MBNL2
MBNL2
Q5VZF2 muscleblind like splicing regulator 2 Nucleic acid binding 29 0.716 0.577 0.26 0.010 None 1.000 1 0 2007 2007