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: 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: 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: 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 1 2006 2015
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE
Q04844 cholinergic receptor nicotinic epsilon subunit Ion channel 97 0.636 0.577 4.7E-09 0.110 None 1.000 1 0 1999 1999
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 1 0 2006 2006
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ
tRNA 137 0.590 0.731 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 234 0.534 0.731 0.100 None 0 0
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
tRNA 135 0.608 0.577 0.100 None 0 0
Entrez Id: 4564
Gene Symbol: TRNH
TRNH
tRNA 125 0.597 0.731 0.100 None 0 0
Entrez Id: 4558
Gene Symbol: TRNF
TRNF
tRNA 148 0.582 0.731 0.100 None 0 0
Entrez Id: 4541
Gene Symbol: ND6
ND6
P03923 NADH dehydrogenase, subunit 6 (complex I) 224 0.544 0.808 0.100 None 0 0
Entrez Id: 4540
Gene Symbol: ND5
ND5
P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 241 0.531 0.769 0.100 None 0 0
Entrez Id: 4538
Gene Symbol: ND4
ND4
P03905 NADH dehydrogenase, subunit 4 (complex I) Enzyme 214 0.546 0.769 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3
P03897 NADH dehydrogenase, subunit 3 (complex I) 113 0.604 0.654 0.100 None 0 0
Entrez Id: 4536
Gene Symbol: ND2
ND2
P03891 MTND2 130 0.601 0.615 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 186 0.555 0.808 0.100 None 0 0
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2
tRNA 152 0.579 0.731 0.100 None 0 0
Entrez Id: 8292
Gene Symbol: COLQ
COLQ
Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 92 0.628 0.654 7.9E-14 0.100 None 0 0
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
Q13698 calcium voltage-gated channel subunit alpha1 S Ion channel 118 0.595 0.692 6.3E-12 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
P53007 solute carrier family 25 member 1 Transporter 168 0.553 0.731 5.9E-02 0.100 None 0 1
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 202 0.554 0.731 1.3E-02 0.100 None 0 0
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
P54253 ataxin 1 218 0.534 0.769 0.97 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
Q9GZV3 solute carrier family 5 member 7 Transporter 127 0.597 0.654 1.5E-02 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
Q13702 receptor associated protein of the synapse 121 0.593 0.731 1.5E-03 0.100 None 0 0
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
O15146 muscle associated receptor tyrosine kinase Kinase 146 0.570 0.769 4.2E-08 0.100 None 0 0