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: 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 1 2016 2016
Entrez Id: 54840
Gene Symbol: APTX
APTX
Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10352
Gene Symbol: WARS2
WARS2
Q9UGM6 tryptophanyl tRNA synthetase 2, mitochondrial 110 0.617 0.577 5.1E-02 0.100 None 0 0
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
Q9NXR1 nudE neurodevelopment protein 1 92 0.608 0.462 6.7E-03 0.100 None 0 0
Entrez Id: 549
Gene Symbol: AUH
AUH
Q13825 AU RNA binding methylglutaconyl-CoA hydratase Enzyme 42 0.686 0.346 8.0E-06 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 91 0.633 0.462 2.0E-16 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 100 0.636 0.615 1.5E-08 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
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: 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: 60684
Gene Symbol: TRAPPC11
TRAPPC11
Q7Z392 trafficking protein particle complex 11 79 0.650 0.500 4.6E-10 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
P48029 solute carrier family 6 member 8 Transporter 274 0.476 0.846 1.00 0.100 None 0 0
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.100 None 0 0
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
Q08357 solute carrier family 20 member 2 Transporter 104 0.638 0.577 0.97 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
P17405 sphingomyelin phosphodiesterase 1 Enzyme 247 0.499 0.885 3.9E-10 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 0 0
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
Q01668 calcium voltage-gated channel subunit alpha1 D Ion channel 116 0.582 0.577 1.00 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
P09619 platelet derived growth factor receptor beta Kinase 492 0.416 0.846 0.90 0.100 None 0 0
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
P01127 platelet derived growth factor subunit B Signaling 301 0.488 0.846 0.77 0.100 None 0 0
Entrez Id: 50
Gene Symbol: ACO2
ACO2
Q99798 aconitase 2 Enzyme 74 0.619 0.654 0.21 0.100 None 0 0
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
Q7Z6L0 proline rich transmembrane protein 2 353 0.448 0.808 0.58 0.100 None 0 0
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1
Q96NT5 solute carrier family 46 member 1 Transporter 97 0.606 0.731 2.2E-02 0.100 None 0 0
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A
P00167 cytochrome b5 type A Enzyme 95 0.601 0.654 1.6E-03 0.100 None 0 0
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
P00387 cytochrome b5 reductase 3 73 0.638 0.654 1.9E-04 0.100 None 0 0