EGR2, early growth response 2, 1959

N. diseases: 133; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.010 GeneticVariation disease LHGDN Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. 16198564 2005
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.010 GeneticVariation disease BEFREE Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. 16198564 2005