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: 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: 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: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.350 None 1.000 5 0 1997 2019
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		Q9Y5W7 sorting nexin 14 Enzyme modulator 59 0.659 0.423 6.1E-17 0.340 None 1.000 4 0 2014 2019
Entrez Id: 5981
Gene Symbol: RFC1
RFC1 		P35251 replication factor C subunit 1 144 0.541 0.808 0.97 0.330 None 1.000 3 0 2019 2019
Entrez Id: 6157
Gene Symbol: RPL27A
RPL27A 		P46776 ribosomal protein L27a Nucleic acid binding 11 0.890 0.115 0.91 0.300 None 1.000 1 0 2011 2011
Entrez Id: 23064
Gene Symbol: SETX
SETX 		Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.200 None 0.960 25 3 2005 2018
Entrez Id: 54840
Gene Symbol: APTX
APTX 		Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.200 None 0.958 24 3 2000 2018
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: 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: 2911
Gene Symbol: GRM1
GRM1 		Q13255 glutamate metabotropic receptor 1 G-protein coupled receptor 172 0.528 0.808 0.14 0.190 None 0.667 9 1 2010 2019
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: 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: 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 2 2014 2019
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.150 None 1.000 5 2 1999 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.130 None 1.000 3 1 2010 2015
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		P78508 potassium inwardly rectifying channel subfamily J member 10 Ion channel 95 0.599 0.654 0.15 0.120 None 1.000 2 1 2013 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.120 None 1.000 2 1 2009 2012
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.120 None 1.000 2 2 2015 2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 150 0.578 0.654 1.6E-13 0.110 None 1.000 2 3 2013 2016
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		Q9H4W6 EBF transcription factor 3 124 0.595 0.731 1.00 0.110 None 1.000 2 1 2017 2017
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		Q9NPG4 protocadherin 12 29 0.722 0.346 2.9E-13 0.110 None 1.000 1 1 2019 2019
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 350 0.476 0.846 2.5E-10 0.110 None 1.000 1 1 2019 2019
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B 		Q9NW08 RNA polymerase III subunit B Enzyme 71 0.628 0.654 1.7E-23 0.110 None 1.000 1 1 2019 2019