Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Schizencephaly COL4A1 disease C0266484 GeneticVariation 0.75 disgenet
Schizencephaly COL4A1 disease C0266484 Biomarker 0.75 disgenet
Schizencephaly SIX3 disease C0266484 GeneticVariation 0.61 orphanet , disgenet
Schizencephaly SIX3 disease C0266484 CausalMutation 0.61 orphanet , disgenet
Schizencephaly SIX3 disease C0266484 Biomarker 0.61 orphanet , disgenet
Schizencephaly EMX2 disease C0266484 Biomarker 0.46 orphanet , disgenet
Schizencephaly EMX2 disease C0266484 GeneticVariation 0.46 orphanet , disgenet
Schizencephaly EMX2 disease C0266484 CausalMutation 0.46 orphanet , disgenet
Schizencephaly SHH disease C0266484 GeneticVariation 0.41 orphanet , disgenet
Schizencephaly SHH disease C0266484 Biomarker 0.41 orphanet , disgenet
Schizencephaly TUBB2B disease C0266484 Biomarker 0.1 disgenet
Schizencephaly WNT1 disease C0266484 Biomarker 0.1 disgenet
Schizencephaly WDR62 disease C0266484 Biomarker 0.1 disgenet
Schizencephaly EPG5 disease C0266484 Biomarker 0.1 disgenet
Schizencephaly SOX2 disease C0266484 Biomarker 0.01 disgenet
Schizencephaly COL4A2 disease C0266484 GeneticVariation 0.01 disgenet
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