Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Frontonasal dysplasia ALX3 disease C1876203 GeneticVariation 0.76 orphanet , disgenet
Frontonasal dysplasia ALX3 disease C1876203 CausalMutation 0.76 orphanet , disgenet
Frontonasal dysplasia ALX3 disease C1876203 GermlineCausalMutation 0.76 orphanet , disgenet
Frontonasal dysplasia ALX3 disease C1876203 Biomarker 0.76 orphanet , disgenet
Frontonasal dysplasia ALX1 disease C1876203 Biomarker 0.53 orphanet , disgenet
Frontonasal dysplasia ALX1 disease C1876203 GeneticVariation 0.53 orphanet , disgenet
Frontonasal dysplasia ALX4 disease C1876203 GeneticVariation 0.33 orphanet , disgenet
Frontonasal dysplasia ALX4 disease C1876203 Biomarker 0.33 orphanet , disgenet
Frontonasal dysplasia EFNB1 disease C1876203 Biomarker 0.31 disgenet
Frontonasal dysplasia EFNB1 disease C1876203 GeneticVariation 0.31 disgenet
Frontonasal dysplasia IRX5 disease C1876203 Biomarker 0.3 disgenet
Frontonasal dysplasia STRIP1 disease C1876203 GeneticVariation 0.1 disgenet
Frontonasal dysplasia STRIP1 disease C1876203 CausalMutation 0.1 disgenet
Frontonasal dysplasia SIX2 disease C1876203 GeneticVariation 0.02 orphanet , disgenet
Frontonasal dysplasia CRP disease C1876203 AlteredExpression 0.01 disgenet
Frontonasal dysplasia TWIST1 disease C1876203 GeneticVariation 0.01 disgenet
Frontonasal dysplasia CHD7 disease C1876203 Biomarker 0.01 disgenet
Frontonasal dysplasia CRYGD disease C1876203 Biomarker 0.01 disgenet
Frontonasal dysplasia SIX1 disease C1876203 GeneticVariation 0.01 disgenet
Frontonasal dysplasia HSH2D disease C1876203 Biomarker 0.01 disgenet
Frontonasal dysplasia IRF6 disease C1876203 Biomarker 0.01 disgenet
Frontonasal dysplasia SH2D3A disease C1876203 GeneticVariation 0.01 disgenet
Frontonasal dysplasia INPP5K disease C1876203 Biomarker 0.01 disgenet
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