Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyper-Beta-Alaninemia MRPL3 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia ND6 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia ND2 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia PNPLA8 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia FBXL4 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia TMEM70 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia CA5A phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia TRNW phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia TRNL1 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia RRM2B phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia PDHX phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia COQ9 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia TYMP phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia FBP1 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia ND4 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia PDHA1 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia TRNV phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia ND3 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia LIPT2 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia ATP5F1A phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia SLC7A7 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia NAGS phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia TRMT10C phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia TMEM126B phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia MICOS13 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia ND5 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia POLG phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia NDUFA13 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia ND1 phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia TRNK phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia MIPEP phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia PC phenotype C0268630 Biomarker 0.1 disgenet
Hyper-Beta-Alaninemia ATP6 phenotype C0268630 Biomarker 0.1 disgenet
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