Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Amelogenesis imperfecta local hypoplastic form LAMB3 disease C0399367 GeneticVariation 0.52 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form LAMB3 disease C0399367 GermlineCausalMutation 0.52 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form LAMB3 disease C0399367 Biomarker 0.52 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form ENAM disease C0399367 GeneticVariation 0.34 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form ENAM disease C0399367 Biomarker 0.34 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form ENAM disease C0399367 GermlineCausalMutation 0.34 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form AMBN disease C0399367 GeneticVariation 0.32 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form AMBN disease C0399367 Biomarker 0.32 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form AMBN disease C0399367 GermlineCausalMutation 0.32 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form ACP4 disease C0399367 GermlineCausalMutation 0.31 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form ACP4 disease C0399367 GeneticVariation 0.31 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form ITGB6 disease C0399367 GermlineCausalMutation 0.3 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form RELT disease C0399367 GermlineCausalMutation 0.3 orphanet , disgenet
Amelogenesis imperfecta local hypoplastic form LAMA3 disease C0399367 Biomarker 0.3 disgenet
Amelogenesis imperfecta local hypoplastic form FAM20A disease C0399367 GeneticVariation 0.01 disgenet
Amelogenesis imperfecta local hypoplastic form FAM20C disease C0399367 GeneticVariation 0.01 disgenet
Amelogenesis imperfecta local hypoplastic form DLX3 NA C0399367 NA NA orphanet
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