Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Neuraminidase deficiency with beta-galactosidase deficiency CTSA disease C0268233 CausalMutation 0.8 orphanet , disgenet
Neuraminidase deficiency with beta-galactosidase deficiency CTSA disease C0268233 AlteredExpression 0.8 orphanet , disgenet
Neuraminidase deficiency with beta-galactosidase deficiency CTSA disease C0268233 GeneticVariation 0.8 orphanet , disgenet
Neuraminidase deficiency with beta-galactosidase deficiency CTSA disease C0268233 Biomarker 0.8 orphanet , disgenet
Neuraminidase deficiency with beta-galactosidase deficiency CTSA disease C0268233 GermlineCausalMutation 0.8 orphanet , disgenet
Neuraminidase deficiency with beta-galactosidase deficiency GLB1 disease C0268233 Biomarker 0.1 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency GLB1 disease C0268233 AlteredExpression 0.1 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency GLB1 disease C0268233 GeneticVariation 0.1 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency NEU1 disease C0268233 Biomarker 0.03 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency NEU1 disease C0268233 AlteredExpression 0.03 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency HPRT1 disease C0268233 Biomarker 0.01 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency NT5C2 disease C0268233 Biomarker 0.01 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency ELF3 disease C0268233 Biomarker 0.01 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency AARS2 disease C0268233 GeneticVariation 0.01 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency GAL disease C0268233 Biomarker 0.01 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency GHRH disease C0268233 GeneticVariation 0.01 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency EDN1 disease C0268233 Biomarker 0.01 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency AVP disease C0268233 GeneticVariation 0.01 disgenet
Neuraminidase deficiency with beta-galactosidase deficiency ADA disease C0268233 GeneticVariation 0.01 disgenet
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