Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperammonemia CPS1 phenotype C0220994 GeneticVariation 0.5 disgenet
Hyperammonemia OTC phenotype C0220994 GeneticVariation 0.5 disgenet
Hyperammonemia CPS1 phenotype C0220994 AlteredExpression 0.5 disgenet
Hyperammonemia OTC phenotype C0220994 CausalMutation 0.5 disgenet
Hyperammonemia OTC phenotype C0220994 AlteredExpression 0.5 disgenet
Hyperammonemia OTC phenotype C0220994 Biomarker 0.5 disgenet
Hyperammonemia CPS1 phenotype C0220994 Biomarker 0.5 disgenet
Hyperammonemia NAGS phenotype C0220994 Biomarker 0.5 orphanet , disgenet
Hyperammonemia NAGS phenotype C0220994 AlteredExpression 0.5 orphanet , disgenet
Hyperammonemia NAGS phenotype C0220994 GeneticVariation 0.5 orphanet , disgenet
Hyperammonemia GLUD1 phenotype C0220994 Biomarker 0.4 disgenet
Hyperammonemia GLUD1 phenotype C0220994 GeneticVariation 0.4 disgenet
Hyperammonemia ASS1 phenotype C0220994 Biomarker 0.38 disgenet
Hyperammonemia ASS1 phenotype C0220994 GeneticVariation 0.38 disgenet
Hyperammonemia ASS1 phenotype C0220994 AlteredExpression 0.38 disgenet
Hyperammonemia TLR5 phenotype C0220994 Biomarker 0.31 disgenet
Hyperammonemia GOT2 phenotype C0220994 Biomarker 0.3 disgenet
Hyperammonemia TYMS phenotype C0220994 Biomarker 0.3 disgenet
Hyperammonemia PRKCQ phenotype C0220994 Biomarker 0.2 disgenet
Hyperammonemia GLUL phenotype C0220994 GeneticVariation 0.18 disgenet
Hyperammonemia GLUL phenotype C0220994 Biomarker 0.18 disgenet
Hyperammonemia GLUL phenotype C0220994 AlteredExpression 0.18 disgenet
Hyperammonemia ARG1 phenotype C0220994 Biomarker 0.15 disgenet
Hyperammonemia SLC25A15 phenotype C0220994 GeneticVariation 0.13 disgenet
Hyperammonemia ASL phenotype C0220994 Biomarker 0.13 disgenet
Hyperammonemia SLC25A15 phenotype C0220994 AlteredExpression 0.13 disgenet
Hyperammonemia ASL phenotype C0220994 AlteredExpression 0.13 disgenet
Hyperammonemia SLC25A15 phenotype C0220994 Biomarker 0.13 disgenet
Hyperammonemia SLC25A13 phenotype C0220994 Biomarker 0.12 disgenet
Hyperammonemia SLC25A13 phenotype C0220994 GeneticVariation 0.12 disgenet
Hyperammonemia HADH phenotype C0220994 GeneticVariation 0.11 disgenet
Hyperammonemia HMGCL phenotype C0220994 Biomarker 0.11 disgenet
Hyperammonemia TMEM70 phenotype C0220994 Biomarker 0.11 disgenet
Hyperammonemia NR1H4 phenotype C0220994 Biomarker 0.11 disgenet
Hyperammonemia ATP5F1D phenotype C0220994 Biomarker 0.11 disgenet
Hyperammonemia ATP5F1D phenotype C0220994 GeneticVariation 0.11 disgenet
Hyperammonemia CA5A phenotype C0220994 Biomarker 0.11 orphanet , disgenet
Hyperammonemia MMUT phenotype C0220994 Biomarker 0.11 disgenet
Hyperammonemia HADH phenotype C0220994 Biomarker 0.11 disgenet
Hyperammonemia CPT2 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia PCCB phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia HADHA phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia MMAB phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia SERAC1 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia NBAS phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia ACAD9 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia MMAA phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia IVD phenotype C0220994 CausalMutation 0.1 disgenet
Hyperammonemia TANGO2 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia ATPAF2 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia BTD phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia MCCC2 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia UQCRC2 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia SLC25A20 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia ACADM phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia CYC1 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia SLC7A7 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia TANGO2 phenotype C0220994 CausalMutation 0.1 disgenet
Hyperammonemia NDUFA6 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia HADHB phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia SLC22A5 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia ACADL phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia DLD phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia TUFM phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia CAD phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia PCCA phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia ACADVL phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia MCCC1 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia HLCS phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia CPT1A phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia ACAT1 phenotype C0220994 Biomarker 0.1 disgenet
Hyperammonemia GCK phenotype C0220994 Biomarker 0.03 disgenet
Hyperammonemia GCK phenotype C0220994 GeneticVariation 0.03 disgenet
Hyperammonemia TNF phenotype C0220994 GeneticVariation 0.02 disgenet
Hyperammonemia TFEB phenotype C0220994 Biomarker 0.02 disgenet
Hyperammonemia MSTN phenotype C0220994 AlteredExpression 0.02 disgenet
Hyperammonemia TNF phenotype C0220994 AlteredExpression 0.02 disgenet
Hyperammonemia GRIA1 phenotype C0220994 AlteredExpression 0.02 disgenet
Hyperammonemia GRIA2 phenotype C0220994 AlteredExpression 0.02 disgenet
Hyperammonemia OAT phenotype C0220994 Biomarker 0.02 disgenet
Hyperammonemia HNF4A phenotype C0220994 Biomarker 0.02 disgenet
Hyperammonemia TFEB phenotype C0220994 AlteredExpression 0.02 disgenet
Hyperammonemia CTNNB1 phenotype C0220994 AlteredExpression 0.02 disgenet
Hyperammonemia HNF4A phenotype C0220994 GeneticVariation 0.02 disgenet
Hyperammonemia CTNNB1 phenotype C0220994 Biomarker 0.02 disgenet
Hyperammonemia SLC6A6 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia CYP2C9 phenotype C0220994 GeneticVariation 0.01 disgenet
Hyperammonemia GSK3B phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia AMT phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia GRAP2 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia ARG2 phenotype C0220994 AlteredExpression 0.01 disgenet
Hyperammonemia POLDIP2 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia PCNA phenotype C0220994 AlteredExpression 0.01 disgenet
Hyperammonemia GCSH phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia INSR phenotype C0220994 GeneticVariation 0.01 disgenet
Hyperammonemia ROS1 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia AHSA1 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia ABCC8 phenotype C0220994 GeneticVariation 0.01 disgenet
Hyperammonemia MAPK14 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia IL1A phenotype C0220994 AlteredExpression 0.01 disgenet
Hyperammonemia NFE2L2 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia IL1B phenotype C0220994 AlteredExpression 0.01 disgenet
Hyperammonemia MED18 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia CRK phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia GABPA phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia TNFRSF1A phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia PC phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia AIMP2 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia GFAP phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia TNFRSF1B phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia GSR phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia TWNK phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia RNF19A phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia ATP6V0A4 phenotype C0220994 GeneticVariation 0.01 disgenet
Hyperammonemia CCL4 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia ALB phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia CAT phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia POLG phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia GLS phenotype C0220994 AlteredExpression 0.01 disgenet
Hyperammonemia OGDH phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia CYP2A6 phenotype C0220994 GeneticVariation 0.01 disgenet
Hyperammonemia HSD17B10 phenotype C0220994 GeneticVariation 0.01 disgenet
Hyperammonemia BDNF phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia MAPK1 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia SLC9A1 phenotype C0220994 Biomarker 0.01 disgenet
Hyperammonemia ABCB1 phenotype C0220994 AlteredExpression 0.01 disgenet
Hyperammonemia MRPS22 NA C0220994 NA NA orphanet
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