| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | disease | BEFREE | Mutations of EGR2 have been found in patients with congenital hypomyelinating neuropathy or Charcot-Marie-Tooth disease type 1D. | 22522483 | 2012 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. | 15947997 | 2005 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. | 15241803 | 2004 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. | 12736090 | 2003 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1. | 11239949 | 2001 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. | 10762521 | 2000 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. | 10502832 | 1999 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. | 9537424 | 1998 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. | 9537424 | 1998 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | |||||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.710 | Biomarker | disease | CTD_human |