Source: ALL
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: 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 24 0 2002 2019
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.100 None 0.957 23 0 1997 2019
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		P54253 ataxin 1 218 0.534 0.769 0.97 0.100 None 0.952 21 0 1992 2019
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.200 None 0.905 21 0 1995 2019
Entrez Id: 4061
Gene Symbol: LY6E
LY6E 		Q16553 lymphocyte antigen 6 family member E 115 0.563 0.808 0.32 0.100 None 0.933 15 0 1997 2019
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS 		P0DMR3 ATXN8 opposite strand lncRNA 91 0.650 0.423 0.100 None 1.000 14 0 1997 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 14 0 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 12 0 1997 2010
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 0.100 None 1.000 11 0 2007 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: 6314
Gene Symbol: ATXN7
ATXN7 		O15265 ataxin 7 162 0.581 0.654 0.96 0.090 None 1.000 9 0 1998 2011
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 0.190 None 1.000 9 0 2003 2018
Entrez Id: 174
Gene Symbol: AFP
AFP 		P02771 alpha fetoprotein Transporter 392 0.429 0.885 1.1E-11 0.080 None 1.000 8 0 1989 2018
Entrez Id: 6908
Gene Symbol: TBP
TBP 		P20226 TATA-box binding protein Transcription factor 158 0.552 0.846 1.5E-02 0.180 None 1.000 8 0 1999 2017
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: 10939
Gene Symbol: AFG3L2
AFG3L2 		Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.070 None 1.000 7 0 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: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.460 None 1.000 7 0 1999 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.450 None 1.000 6 0 1997 2019
Entrez Id: 7173
Gene Symbol: TPO
TPO 		P07202 thyroid peroxidase Enzyme 306 0.455 0.846 1.8E-21 0.060 None 1.000 6 0 2011 2019
Entrez Id: 2911
Gene Symbol: GRM1
GRM1 		Q13255 glutamate metabotropic receptor 1 G-protein coupled receptor 172 0.528 0.808 0.14 0.060 None 0.500 6 0 2010 2019
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.150 None 1.000 5 0 2014 2019
Entrez Id: 5173
Gene Symbol: PDYN
PDYN 		P01213 prodynorphin Signaling 197 0.535 0.577 1.7E-04 0.050 None 1.000 5 0 2010 2013
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.150 None 1.000 5 0 2017 2019
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		P07384 calpain 1 Enzyme 165 0.539 0.808 5.9E-10 0.050 None 1.000 5 0 2013 2019