Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ornithine Carbamoyltransferase Deficiency Disease OTC disease C0268542 Therapeutic 1 orphanet , disgenet
Ornithine Carbamoyltransferase Deficiency Disease OTC disease C0268542 AlteredExpression 1 orphanet , disgenet
Ornithine Carbamoyltransferase Deficiency Disease OTC disease C0268542 CausalMutation 1 orphanet , disgenet
Ornithine Carbamoyltransferase Deficiency Disease OTC disease C0268542 GeneticVariation 1 orphanet , disgenet
Ornithine Carbamoyltransferase Deficiency Disease OTC disease C0268542 Biomarker 1 orphanet , disgenet
Ornithine Carbamoyltransferase Deficiency Disease DMD disease C0268542 GeneticVariation 0.03 disgenet
Ornithine Carbamoyltransferase Deficiency Disease DMD disease C0268542 Biomarker 0.03 disgenet
Ornithine Carbamoyltransferase Deficiency Disease CPS1 disease C0268542 GeneticVariation 0.02 disgenet
Ornithine Carbamoyltransferase Deficiency Disease PLXNA2 disease C0268542 GeneticVariation 0.02 disgenet
Ornithine Carbamoyltransferase Deficiency Disease RPGR disease C0268542 Biomarker 0.02 disgenet
Ornithine Carbamoyltransferase Deficiency Disease CPS1 disease C0268542 AlteredExpression 0.02 disgenet
Ornithine Carbamoyltransferase Deficiency Disease GPT disease C0268542 GeneticVariation 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease PART1 disease C0268542 Biomarker 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease TSPAN7 disease C0268542 GeneticVariation 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease BEST1 disease C0268542 GeneticVariation 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease TFEB disease C0268542 GeneticVariation 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease SLC25A15 disease C0268542 GeneticVariation 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease CYP21A2 disease C0268542 AlteredExpression 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease F7 disease C0268542 GeneticVariation 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease PM20D1 disease C0268542 AlteredExpression 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease AAVS1 disease C0268542 Biomarker 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease CYTB disease C0268542 Biomarker 0.01 disgenet
Ornithine Carbamoyltransferase Deficiency Disease GLUL disease C0268542 Biomarker 0.01 disgenet
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