Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C2673377
Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)
MUCOLIPIDOSIS II ALPHA/BETA (disorder) 		disease 0.930 strong 1.000 5 0 2004 2019
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		disease 0.900 strong 1.000 3 0 2004 2020
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		disease 0.730 strong 1.000 4 0 2004 2019