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: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.300 None 1.000 1 0 2002 2002
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7 		O15265 ataxin 7 162 0.581 0.654 0.96 0.300 None 1.000 1 0 2014 2014
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		P80404 4-aminobutyrate aminotransferase Enzyme 127 0.628 0.538 6.3E-03 0.300 None 1.000 1 0 1999 1999
Entrez Id: 7274
Gene Symbol: TTPA
TTPA 		P49638 alpha tocopherol transfer protein Transporter 147 0.612 0.577 1.4E-03 0.300 None 1.000 1 0 2000 2000
Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2 		P17787 cholinergic receptor nicotinic beta 2 subunit Ion channel 96 0.617 0.308 7.3E-04 0.300 None 1.000 1 0 2013 2013
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: 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: 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: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 2
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 206 0.551 0.769 8.1E-04 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: 80207
Gene Symbol: OPA3
OPA3 		Q9H6K4 outer mitochondrial membrane lipid metabolism regulator OPA3 77 0.653 0.385 0.57 0.100 None 0 0
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.100 None 0 2
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: 83636
Gene Symbol: C19orf12
C19orf12 		Q9NSK7 chromosome 19 open reading frame 12 92 0.641 0.615 0.34 0.100 None 0 0
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		Q13501 sequestosome 1 470 0.428 0.885 8.6E-04 0.100 None 0 0
Entrez Id: 9499
Gene Symbol: MYOT
MYOT 		Q9UBF9 myotilin 82 0.695 0.385 3.4E-08 0.100 None 0 0
Entrez Id: 10020
Gene Symbol: GNE
GNE 		Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.100 None 0 0
Entrez Id: 5165
Gene Symbol: PDK3
PDK3 		Q15120 pyruvate dehydrogenase kinase 3 Kinase 51 0.678 0.500 0.45 0.100 None 0 0
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 112 0.599 0.577 0.100 None 0 2
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2 		O75787 ATPase H+ transporting accessory protein 2 Receptor 184 0.525 0.769 0.87 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
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 174 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 23204
Gene Symbol: ARL6IP1
ARL6IP1 		Q15041 ADP ribosylation factor like GTPase 6 interacting protein 1 48 0.653 0.577 2.2E-02 0.100 None 0 0
Entrez Id: 25894
Gene Symbol: PLEKHG4
PLEKHG4 		Q58EX7 pleckstrin homology and RhoGEF domain containing G4 23 0.769 0.154 1.1E-16 0.100 None 0 0