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: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.300 None 1.000 1 0 2011 2011
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		Q9BQP7 mitochondrial genome maintenance exonuclease 1 52 0.695 0.423 1.8E-03 0.300 None 1.000 1 0 2013 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.140 None 1.000 4 0 2005 2014
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.140 None 1.000 4 0 2003 2013
Entrez Id: 4620
Gene Symbol: MYH2
MYH2 		Q9UKX2 myosin heavy chain 2 77 0.619 0.731 3.7E-23 0.140 None 1.000 4 2 2013 2018
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.130 None 1.000 3 1 2004 2008
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		O43819 synthesis of cytochrome C oxidase 2 Enzyme 294 0.479 0.846 7.5E-07 0.120 None 1.000 2 0 2014 2017
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.110 None 1.000 2 2 2008 2016
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.110 None 1.000 1 0 2004 2004
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 65 0.678 0.346 0.21 0.110 None 1.000 1 0 2013 2013
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		P49821 NADH:ubiquinone oxidoreductase core subunit V1 94 0.617 0.538 6.4E-11 0.110 None 1.000 1 0 2007 2007
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.110 None 1.000 1 0 2019 2019
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		P43155 carnitine O-acetyltransferase Enzyme 59 0.656 0.577 9.5E-12 0.100 None 1.000 1 2 2020 2020
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.100 None 0 0
Entrez Id: 5949
Gene Symbol: RBP3
RBP3 		P10745 retinol binding protein 3 73 0.621 0.500 1.1E-04 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 0
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14 		Q8TBB6 solute carrier family 7 member 14 Transporter 36 0.695 0.308 2.2E-02 0.100 None 0 0
Entrez Id: 57670
Gene Symbol: KIAA1549
KIAA1549 		Q9HCM3 KIAA1549 64 0.615 0.346 0.99 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.100 None 0 0
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		P23942 peripherin 2 152 0.551 0.500 0.12 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L 		O60673 REV3 like, DNA directed polymerase zeta catalytic subunit 95 0.588 0.654 1.00 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		Q92834 retinitis pigmentosa GTPase regulator 167 0.536 0.692 1.00 0.100 None 0 0
Entrez Id: 6102
Gene Symbol: RP2
RP2 		O75695 RP2 activator of ARL3 GTPase Enzyme 45 0.670 0.346 0.96 0.100 None 0 0
Entrez Id: 6101
Gene Symbol: RP1
RP1 		P56715 RP1 axonemal microtubule associated 57 0.663 0.462 4.4E-13 0.100 None 0 0
Entrez Id: 6100
Gene Symbol: RP9
RP9 		Q8TA86 RP9 pre-mRNA splicing factor 54 0.670 0.500 1.9E-02 0.100 None 0 0