Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
TRNS1 tRNA 0.555 0.808 170
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692 168
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846 168
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731 168
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769 163
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 153
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808 153
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769 152
COX3 P00414 cytochrome c oxidase III Enzyme 0.546 0.808 151
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731 150
FAS P25445 Fas cell surface death receptor 0.81 0.372 0.923 147
TRNS2 tRNA 0.579 0.731 145
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885 143
TREX1 Q9NSU2 three prime repair exonuclease 1 0.58 0.517 0.808 142
TRNF tRNA 0.582 0.731 139
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846 138
PEX2 P28328 peroxisomal biogenesis factor 2 2.6E-04 0.582 0.654 137
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731 136
TRNQ tRNA 0.590 0.731 134
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885 133
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 133
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692 132
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962 131
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808 129