Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Megacystis microcolon intestinal hypoperistalsis syndrome ACTG2 disease C1608393 Biomarker 0.66 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome ACTG2 disease C1608393 GeneticVariation 0.66 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome ACTG2 disease C1608393 GermlineCausalMutation 0.66 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome MYH11 disease C1608393 GermlineCausalMutation 0.53 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome MYH11 disease C1608393 GeneticVariation 0.53 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome MYH11 disease C1608393 Biomarker 0.53 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome MYLK disease C1608393 Biomarker 0.51 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome MYLK disease C1608393 GeneticVariation 0.51 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome MYLK disease C1608393 GermlineCausalMutation 0.51 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome LMOD1 disease C1608393 GeneticVariation 0.31 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome LMOD1 disease C1608393 GermlineCausalMutation 0.31 orphanet , disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome CHRM3 disease C1608393 Biomarker 0.2 disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome ACTB disease C1608393 Biomarker 0.05 disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome ACTB disease C1608393 GeneticVariation 0.05 disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome B2M disease C1608393 Biomarker 0.01 disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome MYL9 disease C1608393 Biomarker 0.01 disgenet
Megacystis microcolon intestinal hypoperistalsis syndrome BHLHE23 disease C1608393 Biomarker 0.01 disgenet
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