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: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.100 None 0 0
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
Q15477 Ski2 like RNA helicase 96 0.615 0.654 1.3E-22 0.100 None 0 0
Entrez Id: 1360
Gene Symbol: CPB1
CPB1
P15086 carboxypeptidase B1 Enzyme 57 0.626 0.654 2.6E-22 0.010 None 1.000 1 0 2019 2019
Entrez Id: 348180
Gene Symbol: CTU2
CTU2
Q2VPK5 cytosolic thiouridylase subunit 2 38 0.695 0.423 4.0E-22 0.100 None 0 0
Entrez Id: 10345
Gene Symbol: TRDN
TRDN
Q13061 triadin 49 0.691 0.462 8.4E-22 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1663
Gene Symbol: DDX11
DDX11
Q96FC9 DEAD/H-box helicase 11 Enzyme 44 0.674 0.577 2.3E-21 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.100 None 0 0
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Q86YC2 partner and localizer of BRCA2 260 0.485 0.769 3.0E-19 0.100 None 0 0
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
Q4AC94 C2 domain containing 3 centriole elongation regulator 59 0.636 0.538 4.4E-19 0.100 None 0 0
Entrez Id: 54916
Gene Symbol: TMEM260
TMEM260
Q9NX78 transmembrane protein 260 20 0.769 0.423 4.7E-19 0.100 None 0 0
Entrez Id: 55249
Gene Symbol: YY1AP1
YY1AP1
Q9H869 YY1 associated protein 1 Transcription factor 35 0.711 0.462 1.9E-18 0.100 None 0 0
Entrez Id: 91754
Gene Symbol: NEK9
NEK9
Q8TD19 NIMA related kinase 9 Kinase 67 0.623 0.500 8.2E-18 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
Q12768 WASH complex subunit 5 Transporter 129 0.572 0.615 8.3E-18 0.100 None 0 0
Entrez Id: 5211
Gene Symbol: PFKL
PFKL
P17858 phosphofructokinase, liver type Kinase 19 0.722 0.269 2.7E-17 0.010 None 1.000 1 0 2001 2001
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
Q6Y288 beta 3-glucosyltransferase Enzyme 157 0.554 0.731 7.1E-17 0.100 None 0 0
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
Q9BZG8 diphthamide biosynthesis 1 51 0.653 0.538 8.0E-17 0.100 None 0 0
Entrez Id: 23395
Gene Symbol: LARS2
LARS2
Q15031 leucyl-tRNA synthetase 2, mitochondrial Enzyme 42 0.695 0.654 8.9E-17 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: 26276
Gene Symbol: VPS33B
VPS33B
Q9H267 VPS33B late endosome and lysosome associated Transporter 55 0.644 0.654 2.4E-16 0.100 None 0 0
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.020 None 1.000 2 0 2012 2013
Entrez Id: 6091
Gene Symbol: ROBO1
ROBO1
Q9Y6N7 roundabout guidance receptor 1 144 0.535 0.731 7.3E-16 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 0.100 None 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
Q8N960 centrosomal protein 120 153 0.564 0.731 4.1E-15 0.100 None 0 1
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
P49748 acyl-CoA dehydrogenase very long chain Enzyme 87 0.653 0.654 4.2E-15 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0