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: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 1.000 None 0.992 124 125 2001 2019
Entrez Id: 25973
Gene Symbol: PARS2
PARS2
Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 88 0.644 0.423 4.1E-03 0.320 strong 1.000 2 0 2017 2018
Entrez Id: 10913
Gene Symbol: EDAR
EDAR
Q9UNE0 ectodysplasin A receptor 69 0.623 0.423 1.3E-06 0.100 None 0 2
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
Q9NVI1 FA complementation group I 147 0.543 0.731 8.9E-37 0.100 None 0 13
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
P12271 retinaldehyde binding protein 1 Transporter 67 0.644 0.500 1.1E-05 0.100 None 0 1
Entrez Id: 197
Gene Symbol: AHSG
AHSG
P02765 alpha 2-HS glycoprotein Enzyme modulator 204 0.506 0.846 3.2E-10 0.020 None 1.000 2 0 2013 2016
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.010 None 1.000 1 0 2012 2012
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.010 None 1.000 1 0 1989 1989
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 317 0.454 0.769 1.6E-02 0.010 None 1.000 1 0 2019 2019
Entrez Id: 79731
Gene Symbol: NARS2
NARS2
Q96I59 asparaginyl-tRNA synthetase 2, mitochondrial Enzyme 57 0.650 0.577 7.1E-08 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6620
Gene Symbol: SNCB
SNCB
Q16143 synuclein beta Transporter 60 0.619 0.577 6.8E-02 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
P00441 superoxide dismutase 1 Enzyme 689 0.379 0.962 0.18 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 89 0.615 0.731 9.3E-09 0.010 None 1.000 1 0 2012 2012
Entrez Id: 4885
Gene Symbol: NPTX2
NPTX2
P47972 neuronal pentraxin 2 67 0.617 0.615 3.1E-02 0.010 None 1.000 1 0 2012 2012
Entrez Id: 473
Gene Symbol: RERE
RERE
Q9P2R6 arginine-glutamic acid dipeptide repeats 215 0.526 0.846 1.00 0.010 None 1.000 1 0 1994 1994
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
P53634 cathepsin C Enzyme 139 0.541 0.731 1.1E-07 0.010 None 1.000 1 0 2019 2019
Entrez Id: 130497
Gene Symbol: OSR1
OSR1
Q8TAX0 odd-skipped related transcription factor 1 Transcription factor 77 0.603 0.615 0.86 0.010 None 1.000 1 0 1998 1998
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
Q16854 deoxyguanosine kinase Kinase 112 0.593 0.500 3.7E-07 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
P19971 thymidine phosphorylase Enzyme 246 0.495 0.769 1.2E-04 0.010 None 1.000 1 0 2009 2009
Entrez Id: 27
Gene Symbol: ABL2
ABL2
P42684 ABL proto-oncogene 2, non-receptor tyrosine kinase Kinase 56 0.619 0.654 3.6E-07 0.010 None 1.000 1 0 1994 1994
Entrez Id: 3064
Gene Symbol: HTT
HTT
P42858 huntingtin 188 0.548 0.654 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
P35858 insulin like growth factor binding protein acid labile subunit Receptor 203 0.511 0.846 5.4E-11 0.010 None 1.000 1 0 2018 2018