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: 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: 10049
Gene Symbol: DNAJB6
DNAJB6 		O75190 DnaJ heat shock protein family (Hsp40) member B6 65 0.659 0.462 0.85 0.100 None 0 0
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: 55697
Gene Symbol: VAC14
VAC14 		Q08AM6 VAC14 component of PIKFYVE complex Receptor 140 0.588 0.731 0.19 0.100 None 0 0
Entrez Id: 55958
Gene Symbol: KLHL9
KLHL9 		Q9P2J3 kelch like family member 9 18 0.839 0.154 0.82 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: 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: 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: 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: 79147
Gene Symbol: FKRP
FKRP 		Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 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: 8291
Gene Symbol: DYSF
DYSF 		O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 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: 85021
Gene Symbol: REPS1
REPS1 		Q96D71 RALBP1 associated Eps domain containing 1 Enzyme modulator 22 0.769 0.269 0.99 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 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: 4508
Gene Symbol: ATP6
ATP6 		P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 2
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: 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: 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: 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: 1291
Gene Symbol: COL6A1
COL6A1 		P12109 collagen type VI alpha 1 chain Receptor 164 0.587 0.731 1.00 0.100 None 0 1