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: 692222
Gene Symbol: OPA5
OPA5
optic atrophy 5 (autosomal dominant) 5 0.839 0.154 0.020 None 1.000 2 0 2006 2007
Entrez Id: 106783499
Gene Symbol: OPA8
OPA8
optic atrophy 8 (autosomal dominant) 5 0.839 0.231 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3272
Gene Symbol: HRES1
HRES1
P13985 HTLV-1 related endogenous sequence 54 0.636 0.615 0.010 None 1.000 1 0 2011 2011
Entrez Id: 58156
Gene Symbol: OPA4
OPA4
optic atrophy 4 (autosomal dominant) 4 0.861 0.154 0.010 None 1.000 1 0 2006 2006
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
O76024 wolframin ER transmembrane glycoprotein 185 0.528 0.846 1.6E-38 0.020 None 1.000 2 2 2006 2011
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 2012 2012
Entrez Id: 7402
Gene Symbol: UTRN
UTRN
P46939 utrophin 152 0.525 0.692 1.0E-19 0.060 None 1.000 6 0 2017 2018
Entrez Id: 173
Gene Symbol: AFM
AFM
P43652 afamin Transporter 86 0.590 0.731 4.3E-19 0.010 None 1.000 1 0 1995 1995
Entrez Id: 10133
Gene Symbol: OPTN
OPTN
Q96CV9 optineurin 136 0.548 0.808 5.9E-18 0.010 None 1.000 1 1 2006 2006
Entrez Id: 55
Gene Symbol: ACP3
ACP3
P15309 acid phosphatase 3 Enzyme 151 0.525 0.731 2.5E-16 0.010 None 1.000 1 0 2018 2018
Entrez Id: 11181
Gene Symbol: TREH
TREH
O43280 trehalase 42 0.670 0.654 9.0E-15 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57143
Gene Symbol: ADCK1
ADCK1
Q86TW2 aarF domain containing kinase 1 Kinase 8 0.890 0.192 9.5E-15 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6563
Gene Symbol: SLC14A1
SLC14A1
Q13336 solute carrier family 14 member 1 (Kidd blood group) Transporter 34 0.678 0.538 5.8E-14 0.020 None 1.000 2 0 1998 1999
Entrez Id: 1608
Gene Symbol: DGKG
DGKG
P49619 diacylglycerol kinase gamma Enzyme 29 0.760 0.462 6.0E-13 0.010 None 1.000 1 0 1999 1999
Entrez Id: 831
Gene Symbol: CAST
CAST
P20810 calpastatin 141 0.541 0.846 4.1E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 115209
Gene Symbol: OMA1
OMA1
Q96E52 OMA1 zinc metallopeptidase Enzyme 24 0.716 0.462 1.2E-11 0.060 None 1.000 6 0 2017 2019
Entrez Id: 5346
Gene Symbol: PLIN1
PLIN1
O60240 perilipin 1 85 0.590 0.654 3.1E-11 0.010 None 1.000 1 0 2018 2018
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Q9BXM7 PTEN induced kinase 1 Kinase 209 0.516 0.769 1.9E-10 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55669
Gene Symbol: MFN1
MFN1
Q8IWA4 mitofusin 1 Enzyme 45 0.644 0.577 2.5E-10 0.100 None 1.000 18 0 2016 2020
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 0.010 None 1.000 1 0 2020 2020
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 2019 2019
Entrez Id: 23604
Gene Symbol: DAPK2
DAPK2
Q9UIK4 death associated protein kinase 2 Kinase 130 0.536 0.692 5.0E-10 0.060 None 1.000 6 0 2017 2018
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 2001 2001
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
P07384 calpain 1 Enzyme 165 0.539 0.808 5.9E-10 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1506
Gene Symbol: CTRL
CTRL
P40313 chymotrypsin like Enzyme 76 0.599 0.846 1.1E-09 0.010 None 1.000 1 0 2018 2018