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: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.800 None 1.000 77 240 1999 2019
Entrez Id: 51479
Gene Symbol: ANKFY1
ANKFY1
Q9P2R3 ankyrin repeat and FYVE domain containing 1 7 0.839 0.346 0.96 0.200 None 1.000 1 0 2017 2017
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
O00429 dynamin 1 like Enzyme modulator 273 0.475 0.808 5.7E-04 0.020 None 1.000 2 0 2016 2018
Entrez Id: 7402
Gene Symbol: UTRN
UTRN
P46939 utrophin 152 0.525 0.692 1.0E-19 0.020 None 1.000 2 0 2016 2018
Entrez Id: 6445
Gene Symbol: SGCG
SGCG
Q13326 sarcoglycan gamma Cellular structure 93 0.621 0.615 4.8E-05 0.020 None 1.000 2 0 1999 2009
Entrez Id: 8562
Gene Symbol: DENR
DENR
O43583 density regulated re-initiation and release factor Enzyme 121 0.543 0.692 0.88 0.020 None 1.000 2 0 2016 2018
Entrez Id: 23604
Gene Symbol: DAPK2
DAPK2
Q9UIK4 death associated protein kinase 2 Kinase 130 0.536 0.692 5.0E-10 0.020 None 1.000 2 0 2016 2018
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1
Q14194 collapsin response mediator protein 1 Enzyme 148 0.525 0.808 0.99 0.020 None 1.000 2 0 2016 2018
Entrez Id: 25777
Gene Symbol: SUN2
SUN2
Q9UH99 Sad1 and UNC84 domain containing 2 Cellular structure 33 0.691 0.423 1.9E-08 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7431
Gene Symbol: VIM
VIM
P08670 vimentin 644 0.372 0.846 0.71 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
Q9UHF7 transcriptional repressor GATA binding 1 248 0.537 0.769 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6012
Gene Symbol: RIEG2
RIEG2
Rieger syndrome 2 38 0.674 0.462 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
P55000 secreted LY6/PLAUR domain containing 1 105 0.560 0.654 0.26 0.010 None 1.000 1 0 2018 2018
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.010 None 1.000 1 0 2010 2010
Entrez Id: 55248
Gene Symbol: PACC1
PACC1
Q9H813 proton activated chloride channel 1 100 0.565 0.731 5.4E-10 0.010 None 1.000 1 0 1999 1999
Entrez Id: 54840
Gene Symbol: APTX
APTX
Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.010 None 1.000 1 0 2010 2010
Entrez Id: 23064
Gene Symbol: SETX
SETX
Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.010 None 1.000 1 0 2010 2010
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
P07237 prolyl 4-hydroxylase subunit beta 222 0.488 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
P13473 lysosomal associated membrane protein 2 Transporter 134 0.552 0.731 0.27 0.010 None 1.000 1 0 2017 2017
Entrez Id: 28960
Gene Symbol: DCPS
DCPS
Q96C86 decapping enzyme, scavenger Enzyme 90 0.612 0.538 2.5E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.010 None 1.000 1 0 2017 2017