Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Arthrogryposis multiplex congenita, distal, X-linked UBA1 disease C1844934 CausalMutation 0.72 orphanet , disgenet
Arthrogryposis multiplex congenita, distal, X-linked UBA1 disease C1844934 GeneticVariation 0.72 orphanet , disgenet
Arthrogryposis multiplex congenita, distal, X-linked UBA1 disease C1844934 GermlineCausalMutation 0.72 orphanet , disgenet
Arthrogryposis multiplex congenita, distal, X-linked UBA1 disease C1844934 Biomarker 0.72 orphanet , disgenet
Arthrogryposis multiplex congenita, distal, X-linked ZC4H2 disease C1844934 Biomarker 0.3 disgenet
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