Source: CLINVAR

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 64 66 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 30 14 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: C0026848
Disease: Myopathy
Myopathy 		group 0.200 None 1.000 0 2 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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype 0.110 None 1.000 1 1 2014 2019