Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cerebrofaciothoracic Dysplasia TMCO1 disease C1859252 CausalMutation 0.63 orphanet , disgenet
Cerebrofaciothoracic Dysplasia TMCO1 disease C1859252 Biomarker 0.63 orphanet , disgenet
Cerebrofaciothoracic Dysplasia TMCO1 disease C1859252 GeneticVariation 0.63 orphanet , disgenet
Cerebrofaciothoracic Dysplasia TMCO1 disease C1859252 GermlineCausalMutation 0.63 orphanet , disgenet
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