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: 9343
Gene Symbol: EFTUD2
EFTUD2
Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 76 0.647 0.462 1.00 0.800 None 0.938 16 18 1997 2019
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 198 0.534 0.769 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 150 0.561 0.692 0.98 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2015 2015