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: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 83 0.593 0.615 0.010 None 1.000 1 0 2018 2018
Entrez Id: 261
Gene Symbol: AMCN
AMCN
arthrogryposis multiplex congenita, neurogenic 42 0.682 0.615 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1
glucosylceramidase beta pseudogene 1 64 0.623 0.538 0.010 None 1.000 1 0 2000 2000
Entrez Id: 450095
Gene Symbol: PLF
PLF
Pulmonary function 124 0.544 0.731 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8056
Gene Symbol: ECB2
ECB2
erythrocytosis, autosomal recessive benign 2 8 0.805 0.308 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4512
Gene Symbol: COX1
COX1
P00395 cytochrome c oxidase subunit I Enzyme 421 0.441 0.885 0.100 None 0 0
Entrez Id: 4513
Gene Symbol: COX2
COX2
P00403 cytochrome c oxidase subunit II Enzyme 875 0.352 0.962 0.100 None 0 0
Entrez Id: 4514
Gene Symbol: COX3
COX3
P00414 cytochrome c oxidase III Enzyme 195 0.546 0.808 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1
P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 260 0.522 0.769 0.100 None 0 0
Entrez Id: 4538
Gene Symbol: ND4
ND4
P03905 NADH dehydrogenase, subunit 4 (complex I) Enzyme 214 0.546 0.769 0.100 None 0 0
Entrez Id: 4540
Gene Symbol: ND5
ND5
P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 241 0.531 0.769 0.100 None 0 0
Entrez Id: 4541
Gene Symbol: ND6
ND6
P03923 NADH dehydrogenase, subunit 6 (complex I) 224 0.544 0.808 0.100 None 0 0
Entrez Id: 4558
Gene Symbol: TRNF
TRNF
tRNA 148 0.582 0.731 0.100 None 0 0
Entrez Id: 4564
Gene Symbol: TRNH
TRNH
tRNA 125 0.597 0.731 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 234 0.534 0.731 0.100 None 0 0
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ
tRNA 137 0.590 0.731 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 186 0.555 0.808 0.100 None 0 0
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2
tRNA 152 0.579 0.731 0.100 None 0 0
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
tRNA 188 0.563 0.731 0.100 None 0 0
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 61 0.670 0.538 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.320 strong 1.000 3 0 2017 2019
Entrez Id: 10347
Gene Symbol: ABCA7
ABCA7
Q8IZY2 ATP binding cassette subfamily A member 7 Transporter 70 0.644 0.577 2.1E-55 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 0.120 None 1.000 2 0 2009 2016
Entrez Id: 4626
Gene Symbol: MYH8
MYH8
P13535 myosin heavy chain 8 39 0.682 0.385 2.0E-51 0.110 None 1.000 1 0 2004 2004
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
Q8IZT6 abnormal spindle microtubule assembly 159 0.526 0.769 3.4E-49 0.100 None 1.000 1 1 2020 2020