Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndrome, Sotos NSD1 disease C0175695 Biomarker 0.7 orphanet , disgenet
Syndrome, Sotos NSD1 disease C0175695 GeneticVariation 0.7 orphanet , disgenet
Syndrome, Sotos NSD1 disease C0175695 AlteredExpression 0.7 orphanet , disgenet
Syndrome, Sotos NRK disease C0175695 Biomarker 0.3 disgenet
Syndrome, Sotos SETD2 disease C0175695 GermlineCausalMutation 0.3 orphanet , disgenet
Syndrome, Sotos APC2 disease C0175695 GermlineCausalMutation 0.3 orphanet , disgenet
Syndrome, Sotos PIK3CA disease C0175695 Biomarker 0.2 disgenet
Syndrome, Sotos NFIX disease C0175695 GeneticVariation 0.02 disgenet
Syndrome, Sotos NFIX disease C0175695 Biomarker 0.02 disgenet
Syndrome, Sotos BDNF disease C0175695 GeneticVariation 0.01 disgenet
Syndrome, Sotos NFIC disease C0175695 GeneticVariation 0.01 disgenet
Syndrome, Sotos ARSD disease C0175695 Biomarker 0.01 disgenet
Syndrome, Sotos PREP disease C0175695 Biomarker 0.01 disgenet
Syndrome, Sotos UROD disease C0175695 Biomarker 0.01 disgenet
Syndrome, Sotos EPHB2 disease C0175695 Biomarker 0.01 disgenet
Syndrome, Sotos IGF1 disease C0175695 Biomarker 0.01 disgenet
Syndrome, Sotos STK11 disease C0175695 GeneticVariation 0.01 disgenet
Syndrome, Sotos NTF3 disease C0175695 GeneticVariation 0.01 disgenet
Syndrome, Sotos FGFR3 disease C0175695 AlteredExpression 0.01 disgenet
Syndrome, Sotos GPC3 disease C0175695 GeneticVariation 0.01 disgenet
Syndrome, Sotos NGF disease C0175695 Biomarker 0.01 disgenet
Syndrome, Sotos MAPK1 disease C0175695 Biomarker 0.01 disgenet
Syndrome, Sotos CSPG5 disease C0175695 Biomarker 0.01 disgenet
Syndrome, Sotos NSD2 disease C0175695 GeneticVariation 0.01 disgenet
Syndrome, Sotos RASIP1 disease C0175695 AlteredExpression 0.01 disgenet
Syndrome, Sotos SET disease C0175695 GeneticVariation 0.01 disgenet
Syndrome, Sotos PDC disease C0175695 GeneticVariation 0.01 disgenet
Syndrome, Sotos FGFR4 disease C0175695 GeneticVariation 0.01 disgenet
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