Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital Fibrosis of Extraocular Muscles TUBB3 disease C1302995 GeneticVariation 0.5 orphanet , disgenet
Congenital Fibrosis of Extraocular Muscles KIF21A disease C1302995 Biomarker 0.5 orphanet , disgenet
Congenital Fibrosis of Extraocular Muscles KIF21A disease C1302995 GeneticVariation 0.5 orphanet , disgenet
Congenital Fibrosis of Extraocular Muscles TUBB3 disease C1302995 Biomarker 0.5 orphanet , disgenet
Congenital Fibrosis of Extraocular Muscles TUBB2B disease C1302995 GermlineCausalMutation 0.31 orphanet , disgenet
Congenital Fibrosis of Extraocular Muscles TUBB2B disease C1302995 GeneticVariation 0.31 orphanet , disgenet
Congenital Fibrosis of Extraocular Muscles PHOX2A disease C1302995 GeneticVariation 0.19 orphanet , disgenet
Congenital Fibrosis of Extraocular Muscles PHOX2A disease C1302995 Biomarker 0.19 orphanet , disgenet
Congenital Fibrosis of Extraocular Muscles KIF16B disease C1302995 GeneticVariation 0.03 disgenet
Congenital Fibrosis of Extraocular Muscles KIF16B disease C1302995 Biomarker 0.03 disgenet
Congenital Fibrosis of Extraocular Muscles MYF5 disease C1302995 GeneticVariation 0.01 disgenet
Congenital Fibrosis of Extraocular Muscles MAP1B disease C1302995 Biomarker 0.01 disgenet
Congenital Fibrosis of Extraocular Muscles KANK1 disease C1302995 GeneticVariation 0.01 disgenet
Congenital Fibrosis of Extraocular Muscles PAX6 disease C1302995 GeneticVariation 0.01 disgenet
Congenital Fibrosis of Extraocular Muscles ECEL1 disease C1302995 GeneticVariation 0.01 disgenet
Congenital Fibrosis of Extraocular Muscles RYR1 disease C1302995 Biomarker 0.01 disgenet
Congenital Fibrosis of Extraocular Muscles SEMA6A disease C1302995 GeneticVariation 0.01 disgenet
Congenital Fibrosis of Extraocular Muscles FRMD7 disease C1302995 GeneticVariation 0.01 disgenet
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