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: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.400 None 1.000 47 10 1997 2019
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
P54253 ataxin 1 218 0.534 0.769 0.97 0.100 None 1.000 30 0 1992 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.100 None 1.000 26 0 2002 2019
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 185 0.534 0.846 1.00 0.100 None 1.000 23 0 2003 2019
Entrez Id: 472
Gene Symbol: ATM
ATM
Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.200 None 1.000 17 1 1998 2020
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.200 None 1.000 16 3 1997 2016
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS
P0DMR3 ATXN8 opposite strand lncRNA 91 0.650 0.423 0.100 None 1.000 15 0 1997 2019
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 0.500 None 1.000 13 1 2007 2019
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 174 0.544 0.615 1.00 0.200 None 1.000 12 3 2012 2019
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.100 None 1.000 10 0 2003 2020
Entrez Id: 174
Gene Symbol: AFP
AFP
P02771 alpha fetoprotein Transporter 392 0.429 0.885 1.1E-11 0.100 None 1.000 10 0 1989 2018
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.100 None 1.000 10 2 2006 2020
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.100 None 1.000 10 1 2008 2019
Entrez Id: 5173
Gene Symbol: PDYN
PDYN
P01213 prodynorphin Signaling 197 0.535 0.577 1.7E-04 0.100 None 1.000 10 0 1998 2013
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.090 None 1.000 9 0 2009 2019
Entrez Id: 7173
Gene Symbol: TPO
TPO
P07202 thyroid peroxidase Enzyme 306 0.455 0.846 1.8E-21 0.090 None 1.000 9 0 2011 2019
Entrez Id: 25894
Gene Symbol: PLEKHG4
PLEKHG4
Q58EX7 pleckstrin homology and RhoGEF domain containing G4 23 0.769 0.154 1.1E-16 0.080 None 1.000 8 0 2000 2009
Entrez Id: 6908
Gene Symbol: TBP
TBP
P20226 TATA-box binding protein Transcription factor 158 0.552 0.846 1.5E-02 0.080 None 1.000 8 0 1999 2017
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.070 None 1.000 7 0 2017 2019
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.160 None 1.000 7 7 2009 2019
Entrez Id: 9372
Gene Symbol: ZFYVE9
ZFYVE9
O95405 zinc finger FYVE-type containing 9 59 0.647 0.615 0.90 0.070 None 1.000 7 0 2012 2020
Entrez Id: 56681
Gene Symbol: SAR1A
SAR1A
Q9NR31 secretion associated Ras related GTPase 1A 25 0.743 0.538 0.37 0.070 None 1.000 7 0 2012 2020
Entrez Id: 767
Gene Symbol: CA8
CA8
P35219 carbonic anhydrase 8 87 0.595 0.654 8.3E-03 0.170 None 1.000 7 2 2010 2019
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
P49638 alpha tocopherol transfer protein Transporter 147 0.612 0.577 1.4E-03 0.070 None 1.000 7 1 1997 2009
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
Q9H173 SIL1 nucleotide exchange factor 115 0.584 0.731 1.2E-02 0.060 None 1.000 6 1 2012 2017