Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Neu Laxova syndrome PHGDH disease C0265218 GeneticVariation 0.65 orphanet , disgenet
Neu Laxova syndrome PHGDH disease C0265218 GermlineCausalMutation 0.65 orphanet , disgenet
Neu Laxova syndrome PHGDH disease C0265218 Biomarker 0.65 orphanet , disgenet
Neu Laxova syndrome PSAT1 disease C0265218 Biomarker 0.61 orphanet , disgenet
Neu Laxova syndrome PSAT1 disease C0265218 GermlineCausalMutation 0.61 orphanet , disgenet
Neu Laxova syndrome PSAT1 disease C0265218 GeneticVariation 0.61 orphanet , disgenet
Neu Laxova syndrome SAMHD1 disease C0265218 Biomarker 0.01 disgenet
Neu Laxova syndrome HLA-DRB1 disease C0265218 GeneticVariation 0.01 disgenet
Neu Laxova syndrome ATXN3 disease C0265218 Biomarker 0.01 disgenet
Neu Laxova syndrome PTPN11 disease C0265218 GeneticVariation 0.01 disgenet
Neu Laxova syndrome SNAI1 disease C0265218 AlteredExpression 0.01 disgenet
Neu Laxova syndrome KPNA3 disease C0265218 Biomarker 0.01 disgenet
Neu Laxova syndrome TARDBP disease C0265218 Biomarker 0.01 disgenet
Neu Laxova syndrome MSH6 disease C0265218 Biomarker 0.01 disgenet
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