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: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		O43819 synthesis of cytochrome C oxidase 2 Enzyme 294 0.479 0.846 7.5E-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: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		Q0VAK6 leiomodin 3 Cellular structure 67 0.700 0.423 1.6E-07 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 50964
Gene Symbol: SOST
SOST 		Q9BQB4 sclerostin 270 0.474 0.808 0.87 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		P07951 tropomyosin 2 Cellular structure 228 0.530 0.654 2.4E-04 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		P06753 tropomyosin 3 Cellular structure 297 0.490 0.808 6.7E-03 0.100 None 0 0
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6 		Q9UHW9 solute carrier family 12 member 6 Transporter 97 0.603 0.500 1.1E-02 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 65 0.678 0.346 0.21 0.100 None 0 0
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		Q9P2R7 succinate-CoA ligase ADP-forming subunit beta Enzyme 136 0.566 0.654 2.3E-03 0.100 None 0 0
Entrez Id: 84665
Gene Symbol: MYPN
MYPN 		Q86TC9 myopalladin 114 0.612 0.615 2.6E-06 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP 		P55072 valosin containing protein 376 0.469 0.923 1.00 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		A4D126 CDP-L-ribitol pyrophosphorylase A 134 0.566 0.654 2.5E-04 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 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: 4703
Gene Symbol: NEB
NEB 		P20929 nebulin 148 0.608 0.692 4.6E-41 0.100 None 0 0
Entrez Id: 131377
Gene Symbol: KLHL40
KLHL40 		Q2TBA0 kelch like family member 40 43 0.722 0.385 3.5E-06 0.100 None 0 0
Entrez Id: 113278
Gene Symbol: SLC52A3
SLC52A3 		Q9NQ40 solute carrier family 52 member 3 Transporter 103 0.610 0.654 1.9E-02 0.100 None 0 0
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