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GENE -- gene symbol (links to gene page)Condition -- named syndrome or disease+ -- predominantly adult-onset; pediatric cases documented
E12 entries · 7 genes, 5 conditions
Gene Symbols (7)
EGR2ELP1 (IKBKAP)ERCC1–8ETFDHETHE1EMDERCC1\U20138
Conditions (5)
Emery-Dreifuss muscular dystrophyEscobar syndromeEGR2 mutations: CMT 1D & Other phenotypesEosinophilic FasciitisEthanol-Induced Myopathies

Data sourced from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.