Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Carbamoyl-Phosphate Synthase I Deficiency Disease CPS1 disease C0751753 Biomarker 0.87 orphanet , disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease CPS1 disease C0751753 GermlineCausalMutation 0.87 orphanet , disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease CPS1 disease C0751753 GeneticVariation 0.87 orphanet , disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease CPS1 disease C0751753 AlteredExpression 0.87 orphanet , disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease SERPING1 disease C0751753 Biomarker 0.02 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease SERPINA1 disease C0751753 Biomarker 0.02 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease ABCB11 disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease PTEN disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease E2F1 disease C0751753 AlteredExpression 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease UMPS disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease OTC disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease FLAD1 disease C0751753 GeneticVariation 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease GLUL disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease CAT disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease HMOX1 disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease DHODH disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease ASL disease C0751753 GeneticVariation 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease BTK disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease MYD88 disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease DMD disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease FOXP3 disease C0751753 Biomarker 0.01 disgenet
Carbamoyl-Phosphate Synthase I Deficiency Disease RASGRP2 NA C0751753 NA NA orphanet
Carbamoyl-Phosphate Synthase I Deficiency Disease PSAP NA C0751753 NA NA orphanet
Carbamoyl-Phosphate Synthase I Deficiency Disease CDKL5 NA C0751753 NA NA orphanet
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