Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Lethal congenital contracture syndrome 1 GLE1 disease C1854664 Biomarker 0.74 orphanet , disgenet
Lethal congenital contracture syndrome 1 GLE1 disease C1854664 GermlineCausalMutation 0.74 orphanet , disgenet
Lethal congenital contracture syndrome 1 GLE1 disease C1854664 GeneticVariation 0.74 orphanet , disgenet
Lethal congenital contracture syndrome 1 GLE1 disease C1854664 CausalMutation 0.74 orphanet , disgenet
Lethal congenital contracture syndrome 1 ERBB3 disease C1854664 Biomarker 0.01 disgenet
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