Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Lysinuric Protein Intolerance SLC7A7 disease C0268647 CausalMutation 0.8 orphanet , disgenet
Lysinuric Protein Intolerance SLC7A7 disease C0268647 AlteredExpression 0.8 orphanet , disgenet
Lysinuric Protein Intolerance SLC7A7 disease C0268647 Biomarker 0.8 orphanet , disgenet
Lysinuric Protein Intolerance SLC7A7 disease C0268647 GeneticVariation 0.8 orphanet , disgenet
Lysinuric Protein Intolerance SLC3A2 disease C0268647 GeneticVariation 0.06 disgenet
Lysinuric Protein Intolerance SLC3A2 disease C0268647 Biomarker 0.06 disgenet
Lysinuric Protein Intolerance SLC7A6 disease C0268647 AlteredExpression 0.04 disgenet
Lysinuric Protein Intolerance SLC7A6 disease C0268647 Biomarker 0.04 disgenet
Lysinuric Protein Intolerance SLC7A5 disease C0268647 Biomarker 0.03 disgenet
Lysinuric Protein Intolerance LAT disease C0268647 GeneticVariation 0.03 disgenet
Lysinuric Protein Intolerance SLC7A5 disease C0268647 GeneticVariation 0.03 disgenet
Lysinuric Protein Intolerance LAT disease C0268647 Biomarker 0.03 disgenet
Lysinuric Protein Intolerance CSF2 disease C0268647 Biomarker 0.02 disgenet
Lysinuric Protein Intolerance MYH7 disease C0268647 GeneticVariation 0.02 disgenet
Lysinuric Protein Intolerance MYH7 disease C0268647 Biomarker 0.02 disgenet
Lysinuric Protein Intolerance CSF2 disease C0268647 GeneticVariation 0.02 disgenet
Lysinuric Protein Intolerance BCL2 disease C0268647 Biomarker 0.01 disgenet
Lysinuric Protein Intolerance PSMB6 disease C0268647 Biomarker 0.01 disgenet
Lysinuric Protein Intolerance OAT disease C0268647 Biomarker 0.01 disgenet
Lysinuric Protein Intolerance SLC7A8 disease C0268647 AlteredExpression 0.01 disgenet
Lysinuric Protein Intolerance CFP disease C0268647 GeneticVariation 0.01 disgenet
Lysinuric Protein Intolerance APAF1 disease C0268647 AlteredExpression 0.01 disgenet
Lysinuric Protein Intolerance CCL21 disease C0268647 GeneticVariation 0.01 disgenet
Lysinuric Protein Intolerance NAGS disease C0268647 Biomarker 0.01 disgenet
Lysinuric Protein Intolerance YY1 disease C0268647 Biomarker 0.01 disgenet
Lysinuric Protein Intolerance SLC7A2 disease C0268647 Biomarker 0.01 disgenet
Lysinuric Protein Intolerance CXCL10 disease C0268647 Biomarker 0.01 disgenet
Lysinuric Protein Intolerance DLL1 disease C0268647 Biomarker 0.01 disgenet
Lysinuric Protein Intolerance SLC7A9 disease C0268647 Biomarker 0.01 disgenet
Lysinuric Protein Intolerance TLR4 disease C0268647 Biomarker 0.01 disgenet
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