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 0.320 None 1.000 2 0 2013 2018
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: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.130 None 1.000 3 0 2007 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.110 None 1.000 1 0 2011 2011
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 2011 2011
Entrez Id: 4617
Gene Symbol: MYF5
MYF5
P13349 myogenic factor 5 Transcription factor 30 0.686 0.423 2.3E-04 0.110 None 1.000 1 2 2018 2018
Entrez Id: 4556
Gene Symbol: TRNE
TRNE
tRNA 83 0.647 0.692 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.100 None 0 0
Entrez Id: 56947
Gene Symbol: MFF
MFF
Q9GZY8 mitochondrial fission factor 44 0.705 0.462 6.5E-02 0.100 None 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
Q9UJQ4 spalt like transcription factor 4 Transcription factor 245 0.489 0.769 1.00 0.100 None 0 0
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: 6389
Gene Symbol: SDHA
SDHA
P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 316 0.474 0.846 2.4E-04 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
O14521 succinate dehydrogenase complex subunit D Transporter 348 0.472 0.885 0.34 0.100 None 0 0
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
P50570 dynamin 2 Enzyme modulator 178 0.542 0.769 1.00 0.100 None 0 0
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
Q8NCE2 myotubularin related protein 14 61 0.674 0.615 1.4E-07 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2
O00142 thymidine kinase 2 Kinase 143 0.585 0.615 3.9E-07 0.100 None 0 0
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
Q9BZV2 solute carrier family 19 member 3 Transporter 112 0.610 0.692 0.10 0.100 None 0 0
Entrez Id: 90624
Gene Symbol: LYRM7
LYRM7
Q5U5X0 LYR motif containing 7 34 0.716 0.346 2.2E-02 0.100 None 0 0
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1
A6NFY7 succinate dehydrogenase complex assembly factor 1 88 0.656 0.462 8.7E-02 0.100 None 0 0
Entrez Id: 4618
Gene Symbol: MYF6
MYF6
P23409 myogenic factor 6 Transcription factor 46 0.691 0.423 4.1E-03 0.100 None 0 0
Entrez Id: 274
Gene Symbol: BIN1
BIN1
O00499 bridging integrator 1 163 0.550 0.692 0.78 0.100 None 0 0
Entrez Id: 246243
Gene Symbol: RNASEH1
RNASEH1
O60930 ribonuclease H1 52 0.711 0.462 1.1E-02 0.100 None 0 0
Entrez Id: 2483
Gene Symbol: FRG1
FRG1
Q14331 FSHD region gene 1 Nucleic acid binding 44 0.722 0.423 6.1E-07 0.100 None 0 0
Entrez Id: 1763
Gene Symbol: DNA2
DNA2
P51530 DNA replication helicase/nuclease 2 71 0.626 0.731 1.3E-18 0.100 None 0 0