rs104894161, EGR2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
45 0.807 0.080 10 62813563 missense variant G/A snv 0.830 1.000 3 1999 2005
Charcot-Marie-Tooth disease, Type 1D (disorder)
CUI: C1843247
Disease: Charcot-Marie-Tooth disease, Type 1D (disorder)
4 0.807 0.080 10 62813563 missense variant G/A snv 0.800 1.000 7 1998 2005
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
84 0.807 0.080 10 62813563 missense variant G/A snv 0.700 1.000 7 1999 2016
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
CUI: C4016028
Disease: DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
2 0.807 0.080 10 62813563 missense variant G/A snv 0.700 0
Abnormality of the cranial nerves
CUI: C1854510
Disease: Abnormality of the cranial nerves
2 0.807 0.080 10 62813563 missense variant G/A snv 0.010 1.000 1 2001 2001
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.807 0.080 10 62813563 missense variant G/A snv 0.010 1.000 1 2005 2005