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: 18
Gene Symbol: ABAT
ABAT
P80404 4-aminobutyrate aminotransferase Enzyme 127 0.628 0.538 6.3E-03 0.400 None 1.000 2 4 1999 2010
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
O15265 ataxin 7 162 0.581 0.654 0.96 0.400 None 1.000 1 0 2014 2014
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: 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: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 1.000 1 2 2016 2016
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
Q8N2K0 abhydrolase domain containing 12 Enzyme 60 0.666 0.385 1.9E-05 0.100 None 1.000 1 1 2018 2018
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
Q96B77 transmembrane protein 186 5 1.000 0.077 5.2E-05 0.100 None 1.000 1 1 2010 2010
Entrez Id: 57670
Gene Symbol: KIAA1549
KIAA1549
Q9HCM3 KIAA1549 64 0.615 0.346 0.99 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5
Q32P41 tRNA methyltransferase 5 Enzyme 28 0.769 0.231 5.0E-02 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 0
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
Q9ULH0 kinase D interacting substrate 220 145 0.534 0.769 7.4E-02 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
Q8IYD8 FA complementation group M Enzyme 147 0.543 0.731 2.4E-15 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14
Q8TBB6 solute carrier family 7 member 14 Transporter 36 0.695 0.308 2.2E-02 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
Q03393 6-pyruvoyltetrahydropterin synthase 89 0.636 0.654 6.5E-06 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
P40855 peroxisomal biogenesis factor 19 Storage 134 0.585 0.731 3.2E-04 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
P28328 peroxisomal biogenesis factor 2 152 0.582 0.654 2.6E-04 0.100 None 0 0
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
Q6NSJ0 myogenesis regulating glycosidase (putative) Enzyme 32 0.805 0.269 1.1E-11 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
Q96KG9 SCY1 like pseudokinase 1 Kinase 104 0.582 0.769 2.5E-08 0.100 None 0 0
Entrez Id: 57338
Gene Symbol: JPH3
JPH3
Q8WXH2 junctophilin 3 90 0.608 0.538 1.00 0.100 None 0 0
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH
P41219 peripherin 73 0.623 0.462 4.8E-14 0.100 None 0 0
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
Q92743 HtrA serine peptidase 1 Enzyme 164 0.532 0.692 4.9E-04 0.100 None 0 0