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: 4287
Gene Symbol: ATXN3
ATXN3
P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 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: 1103
Gene Symbol: CHAT
CHAT
P28329 choline O-acetyltransferase Enzyme 230 0.520 0.808 5.6E-11 0.100 None 0 2
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
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: 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: 2688
Gene Symbol: GH1
GH1
P01241 growth hormone 1 Signaling 686 0.373 0.923 3.0E-02 0.010 None 1.000 1 0 1998 1998
Entrez Id: 29967
Gene Symbol: LRP12
LRP12
Q9Y561 LDL receptor related protein 12 Enzyme 37 0.743 0.462 1.00 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: 56947
Gene Symbol: MFF
MFF
Q9GZY8 mitochondrial fission factor 44 0.705 0.462 6.5E-02 0.100 None 0 0
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: 4534
Gene Symbol: MTM1
MTM1
Q13496 myotubularin 1 Enzyme 125 0.573 0.731 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: 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: 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: 4620
Gene Symbol: MYH2
MYH2
Q9UKX2 myosin heavy chain 2 77 0.619 0.731 3.7E-23 0.060 None 1.000 6 0 2007 2016
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: 4976
Gene Symbol: OPA1
OPA1
O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.010 None 1.000 1 0 2004 2004
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: 11232
Gene Symbol: POLG2
POLG2
Q9UHN1 DNA polymerase gamma 2, accessory subunit Enzyme 158 0.558 0.769 1.5E-10 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: 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: 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: 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