Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps COL4A1 disease C2673195 CausalMutation 0.77 orphanet , disgenet
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps COL4A1 disease C2673195 Biomarker 0.77 orphanet , disgenet
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps COL4A1 disease C2673195 GeneticVariation 0.77 orphanet , disgenet
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps COL4A1 disease C2673195 GermlineCausalMutation 0.77 orphanet , disgenet
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps COL4A2 disease C2673195 CausalMutation 0.1 disgenet
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps PKD2 disease C2673195 GeneticVariation 0.01 disgenet
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