Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
22q11 Deletion Syndromes TBX1 disease C2936346 ChromosomalRearrangement 0.39 disgenet
22q11 Deletion Syndromes TBX1 disease C2936346 GermlineCausalMutation 0.39 disgenet
22q11 Deletion Syndromes TBX1 disease C2936346 Biomarker 0.39 disgenet
22q11 Deletion Syndromes TBX1 disease C2936346 GeneticVariation 0.39 disgenet
22q11 Deletion Syndromes COMT disease C2936346 GeneticVariation 0.36 disgenet
22q11 Deletion Syndromes COMT disease C2936346 Biomarker 0.36 disgenet
22q11 Deletion Syndromes COMT disease C2936346 ChromosomalRearrangement 0.36 disgenet
22q11 Deletion Syndromes UFD1 disease C2936346 ChromosomalRearrangement 0.32 disgenet
22q11 Deletion Syndromes HIRA disease C2936346 Biomarker 0.32 disgenet
22q11 Deletion Syndromes UFD1 disease C2936346 AlteredExpression 0.32 disgenet
22q11 Deletion Syndromes HIRA disease C2936346 ChromosomalRearrangement 0.32 disgenet
22q11 Deletion Syndromes UFD1 disease C2936346 Biomarker 0.32 disgenet
22q11 Deletion Syndromes FGF8 disease C2936346 GeneticVariation 0.31 disgenet
22q11 Deletion Syndromes FGF8 disease C2936346 Biomarker 0.31 disgenet
22q11 Deletion Syndromes GP1BB disease C2936346 ChromosomalRearrangement 0.31 disgenet
22q11 Deletion Syndromes GP1BB disease C2936346 GeneticVariation 0.31 disgenet
22q11 Deletion Syndromes ARVCF disease C2936346 ChromosomalRearrangement 0.3 disgenet
22q11 Deletion Syndromes RREB1 disease C2936346 GermlineModifyingMutation 0.3 disgenet
22q11 Deletion Syndromes JMJD1C disease C2936346 GermlineModifyingMutation 0.3 disgenet
22q11 Deletion Syndromes SEC24C disease C2936346 GermlineModifyingMutation 0.3 disgenet
22q11 Deletion Syndromes DGCR disease C2936346 Biomarker 0.02 disgenet
22q11 Deletion Syndromes DGCR disease C2936346 GeneticVariation 0.02 disgenet
22q11 Deletion Syndromes PRODH disease C2936346 GeneticVariation 0.02 disgenet
22q11 Deletion Syndromes PRODH disease C2936346 Biomarker 0.02 disgenet
22q11 Deletion Syndromes CLDN5 disease C2936346 AlteredExpression 0.01 disgenet
22q11 Deletion Syndromes SLC2A14 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes HTC2 disease C2936346 GeneticVariation 0.01 disgenet
22q11 Deletion Syndromes CXCR4 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes CRKL disease C2936346 GeneticVariation 0.01 disgenet
22q11 Deletion Syndromes TXNRD2 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes CHRD disease C2936346 GeneticVariation 0.01 disgenet
22q11 Deletion Syndromes MIR185 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes SEPT5-GP1BB disease C2936346 GeneticVariation 0.01 disgenet
22q11 Deletion Syndromes ATP2A2 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes SNAI1 disease C2936346 AlteredExpression 0.01 disgenet
22q11 Deletion Syndromes NANOGP1 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes DGCR8 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes ARSD disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes GABBR1 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes HIC2 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes ZDHHC8 disease C2936346 Biomarker 0.01 disgenet
22q11 Deletion Syndromes HAND2 disease C2936346 AlteredExpression 0.01 disgenet
22q11 Deletion Syndromes CECR disease C2936346 Biomarker 0.01 disgenet
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