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: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.100 None 1.000 1 2 2009 2009
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.100 None 0 2
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.100 None 0 0
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
P43155 carnitine O-acetyltransferase Enzyme 59 0.656 0.577 9.5E-12 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: 29925
Gene Symbol: GMPPB
GMPPB
Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 64 0.674 0.385 1.7E-06 0.100 None 0 0
Entrez Id: 11149
Gene Symbol: BVES
BVES
Q8NE79 blood vessel epicardial substance 43 0.722 0.308 9.3E-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: 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: 154881
Gene Symbol: KCTD7
KCTD7
Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 68 0.650 0.423 6.3E-04 0.100 None 0 2
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: 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: 4137
Gene Symbol: MAPT
MAPT
P10636 microtubule associated protein tau 469 0.446 0.923 6.0E-03 0.100 None 0 0
Entrez Id: 1674
Gene Symbol: DES
DES
P17661 desmin 330 0.460 0.846 8.8E-03 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: 103
Gene Symbol: ADAR
ADAR
P55265 adenosine deaminase RNA specific Enzyme 256 0.501 0.808 2.6E-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: 84668
Gene Symbol: FAM126A
FAM126A
Q9BYI3 family with sequence similarity 126 member A 50 0.682 0.423 0.12 0.100 None 0 0
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14
Q08AM6 VAC14 component of PIKFYVE complex Receptor 140 0.588 0.731 0.19 0.100 None 0 0