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: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.770 definitive 1.000 16 19 2012 2020
Entrez Id: 5236
Gene Symbol: PGM1
PGM1
P36871 phosphoglucomutase 1 72 0.628 0.577 5.1E-15 0.300 strong 1.000 2 0 2016 2016
Entrez Id: 64772
Gene Symbol: ENGASE
ENGASE
Q8NFI3 endo-beta-N-acetylglucosaminidase Enzyme 4 0.861 0.231 4.4E-25 0.020 None 1.000 2 0 2017 2017