Source: ALL
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 0.100 None 0 0
Entrez Id: 5424
Gene Symbol: POLD1
POLD1 		P28340 DNA polymerase delta 1, catalytic subunit 189 0.507 0.769 2.4E-06 0.100 None 0 0
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 0.100 None 0 0
Entrez Id: 51520
Gene Symbol: LARS1
LARS1 		Q9P2J5 leucyl-tRNA synthetase 1 38 0.678 0.577 8.2E-09 0.100 None 0 0
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2 		Q9UHG0 doublecortin domain containing 2 128 0.546 0.769 5.7E-10 0.100 None 0 0
Entrez Id: 51371
Gene Symbol: POMP
POMP 		Q9Y244 proteasome maturation protein 66 0.674 0.346 0.91 0.100 None 0 1
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5 		Q86SX6 glutaredoxin 5 Enzyme 70 0.659 0.538 0.75 0.100 None 0 0
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B 		Q9Y6B6 secretion associated Ras related GTPase 1B 44 0.686 0.462 2.3E-03 0.100 None 0 0
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		Q9Y3A5 SBDS ribosome maturation factor Enzyme 105 0.601 0.692 6.2E-05 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		Q8WTS1 abhydrolase domain containing 5 76 0.641 0.538 6.4E-07 0.100 None 0 0
Entrez Id: 51021
Gene Symbol: MRPS16
MRPS16 		Q9Y3D3 mitochondrial ribosomal protein S16 Nucleic acid binding 19 0.821 0.231 5.8E-02 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1 		Q15067 acyl-CoA oxidase 1 Enzyme 95 0.610 0.731 6.2E-02 0.100 None 0 0
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3 		Q9BZS1 forkhead box P3 688 0.368 0.846 0.99 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.100 None 0 0
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		A2RRP1 NBAS subunit of NRZ tethering complex 123 0.566 0.692 5.0E-43 0.100 None 0 0
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1 		Q9Y234 lipoyltransferase 1 Enzyme 55 0.674 0.462 3.8E-08 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 537
Gene Symbol: ATP6AP1
ATP6AP1 		Q15904 ATPase H+ transporting accessory protein 1 38 0.691 0.577 0.99 0.100 None 0 0
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		P01009 serpin family A member 1 Enzyme modulator 482 0.410 0.923 6.8E-08 0.100 None 0 0
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		P15735 phosphorylase kinase catalytic subunit gamma 2 Kinase 53 0.674 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2 		P46019 phosphorylase kinase regulatory subunit alpha 2 Kinase 47 0.678 0.462 0.38 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		P21439 ATP binding cassette subfamily B member 4 Transporter 157 0.529 0.615 2.2E-07 0.100 None 0 0
Entrez Id: 5236
Gene Symbol: PGM1
PGM1 		P36871 phosphoglucomutase 1 72 0.628 0.577 5.1E-15 0.100 None 0 0
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1 		O43520 ATPase phospholipid transporting 8B1 Transporter 70 0.610 0.500 2.8E-10 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13 		Q92968 peroxisomal biogenesis factor 13 132 0.597 0.654 5.9E-05 0.100 None 0 0