Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 GeneticVariation disease UNIPROT Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. 22522483 2012
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 Biomarker disease MGD Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. 19244508 2009
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 Biomarker disease MGD Nab proteins are essential for peripheral nervous system myelination. 16136673 2005
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 Biomarker disease MGD Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. 15695336 2005
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 GeneticVariation disease UNIPROT Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. 9537424 1998
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 CausalMutation disease CLINVAR
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 Biomarker disease GENOMICS_ENGLAND
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 Biomarker disease GENOMICS_ENGLAND
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
0.800 Biomarker disease GENOMICS_ENGLAND