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: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
disease 0.800 None 1.000 4 0 2001 2019
Entrez Id: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C0342853
Disease: Sialuria
Sialuria
disease 0.760 strong 1.000 0 0 1989 2017
Entrez Id: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies
group 0.370 strong 1.000 1 0 2002 2018
Entrez Id: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
group 0.300 strong 1.000 1 0 2014 2014