Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
DiGeorge Syndrome TBX1 disease C0012236 CausalMutation 1 orphanet , disgenet
DiGeorge Syndrome TBX1 disease C0012236 ChromosomalRearrangement 1 orphanet , disgenet
DiGeorge Syndrome TBX1 disease C0012236 GeneticVariation 1 orphanet , disgenet
DiGeorge Syndrome TBX1 disease C0012236 Biomarker 1 orphanet , disgenet
DiGeorge Syndrome TBX1 disease C0012236 GermlineCausalMutation 1 orphanet , disgenet
DiGeorge Syndrome TBX1 disease C0012236 AlteredExpression 1 orphanet , disgenet
DiGeorge Syndrome COMT disease C0012236 GeneticVariation 0.6 orphanet , disgenet
DiGeorge Syndrome COMT disease C0012236 Biomarker 0.6 orphanet , disgenet
DiGeorge Syndrome COMT disease C0012236 ChromosomalRearrangement 0.6 orphanet , disgenet
DiGeorge Syndrome CRKL disease C0012236 GeneticVariation 0.52 disgenet
DiGeorge Syndrome CRKL disease C0012236 Biomarker 0.52 disgenet
DiGeorge Syndrome FGF8 disease C0012236 Biomarker 0.5 disgenet
DiGeorge Syndrome HIRA disease C0012236 Biomarker 0.4 orphanet , disgenet
DiGeorge Syndrome HIRA disease C0012236 AlteredExpression 0.4 orphanet , disgenet
DiGeorge Syndrome DGCR disease C0012236 Biomarker 0.4 disgenet
DiGeorge Syndrome HIRA disease C0012236 ChromosomalRearrangement 0.4 orphanet , disgenet
DiGeorge Syndrome DGCR disease C0012236 GeneticVariation 0.4 disgenet
DiGeorge Syndrome HIRA disease C0012236 GeneticVariation 0.4 orphanet , disgenet
DiGeorge Syndrome DGCR6 disease C0012236 Biomarker 0.35 disgenet
DiGeorge Syndrome DGCR6 disease C0012236 AlteredExpression 0.35 disgenet
DiGeorge Syndrome DGCR8 disease C0012236 AlteredExpression 0.34 disgenet
DiGeorge Syndrome DGCR2 disease C0012236 GeneticVariation 0.34 disgenet
DiGeorge Syndrome DGCR8 disease C0012236 GeneticVariation 0.34 disgenet
DiGeorge Syndrome DGCR2 disease C0012236 Biomarker 0.34 disgenet
DiGeorge Syndrome DGCR8 disease C0012236 Biomarker 0.34 disgenet
DiGeorge Syndrome UFD1 disease C0012236 Biomarker 0.33 orphanet , disgenet
DiGeorge Syndrome UFD1 disease C0012236 ChromosomalRearrangement 0.33 orphanet , disgenet
DiGeorge Syndrome UFD1 disease C0012236 AlteredExpression 0.33 orphanet , disgenet
DiGeorge Syndrome GP1BB disease C0012236 ChromosomalRearrangement 0.31 orphanet , disgenet
DiGeorge Syndrome GP1BB disease C0012236 Biomarker 0.31 orphanet , disgenet
DiGeorge Syndrome RREB1 disease C0012236 GermlineModifyingMutation 0.3 orphanet , disgenet
DiGeorge Syndrome JMJD1C disease C0012236 GermlineModifyingMutation 0.3 orphanet , disgenet
DiGeorge Syndrome ESS2 disease C0012236 Biomarker 0.3 disgenet
DiGeorge Syndrome SEC24C disease C0012236 GermlineModifyingMutation 0.3 orphanet , disgenet
DiGeorge Syndrome ARVCF disease C0012236 ChromosomalRearrangement 0.3 orphanet , disgenet
DiGeorge Syndrome FOXN1 disease C0012236 GeneticVariation 0.23 disgenet
DiGeorge Syndrome FOXN1 disease C0012236 AlteredExpression 0.23 disgenet
DiGeorge Syndrome FOXN1 disease C0012236 Biomarker 0.23 disgenet
DiGeorge Syndrome TGFBR2 disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome NDST1 disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome PLXND1 disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome CHRD disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome DOCK1 disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome KAT6A disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome VEGFA disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome HOXA3 disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome DICER1 disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome ZNF366 disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome ALDH1A2 disease C0012236 Biomarker 0.2 disgenet
DiGeorge Syndrome CHD7 disease C0012236 Biomarker 0.08 disgenet
DiGeorge Syndrome CHD7 disease C0012236 GeneticVariation 0.08 disgenet
DiGeorge Syndrome DGS2 disease C0012236 Biomarker 0.03 disgenet
DiGeorge Syndrome DGS2 disease C0012236 GeneticVariation 0.03 disgenet
DiGeorge Syndrome PRODH disease C0012236 Biomarker 0.03 disgenet
DiGeorge Syndrome HTC2 disease C0012236 GeneticVariation 0.03 disgenet
DiGeorge Syndrome HTC2 disease C0012236 Biomarker 0.03 disgenet
DiGeorge Syndrome PRODH disease C0012236 AlteredExpression 0.03 disgenet
DiGeorge Syndrome GSC2 disease C0012236 GeneticVariation 0.03 disgenet
DiGeorge Syndrome GSC2 disease C0012236 Biomarker 0.03 disgenet
DiGeorge Syndrome HTRA2 disease C0012236 GeneticVariation 0.02 disgenet
DiGeorge Syndrome SLC25A1 disease C0012236 GeneticVariation 0.02 disgenet
DiGeorge Syndrome SLC25A1 disease C0012236 Biomarker 0.02 disgenet
DiGeorge Syndrome TBX5 disease C0012236 GeneticVariation 0.02 disgenet
DiGeorge Syndrome ZNF74 disease C0012236 AlteredExpression 0.02 disgenet
DiGeorge Syndrome CDC45 disease C0012236 Biomarker 0.02 disgenet
DiGeorge Syndrome SEPTIN5 disease C0012236 Biomarker 0.02 disgenet
DiGeorge Syndrome FBXO7 disease C0012236 AlteredExpression 0.02 disgenet
DiGeorge Syndrome ZNF74 disease C0012236 Biomarker 0.02 disgenet
DiGeorge Syndrome FBXO7 disease C0012236 Biomarker 0.02 disgenet
DiGeorge Syndrome DVL1P1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome NPLOC4 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome BCR disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome TNF disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome MAP3K8 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome IGLC5 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome EDN1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome ARSA disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome CELF2 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome ATXN2 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome C19orf12 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome IGLC3 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome CECR2 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome GBA disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome DGCR6L disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome EYA1 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome LZTR1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome SNCA disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome ZAP70 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome LRRK2 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome APOL1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome NKX2-6 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome RAC2 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome BCL2 disease C0012236 AlteredExpression 0.01 disgenet
DiGeorge Syndrome DERL3 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome IGLC4 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome BCRP2 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome FOXI3 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome CECR7 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome DGCR5 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome CD27 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome SHANK3 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome PRDM9 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome GCOM1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome IGLC2 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome POLR2M disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome CPO disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome MIR185 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome CLTC disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome ALB disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome TJP1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome RANBP1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome CIC disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome TBX3 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome DNAJC13 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome IL2 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome MIR132 disease C0012236 AlteredExpression 0.01 disgenet
DiGeorge Syndrome IGLC1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome IGLC6 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome MED15 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome GATA3 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome GNB1L disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome CHRNA7 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome BMP4 disease C0012236 PosttranslationalModification 0.01 disgenet
DiGeorge Syndrome RAB39B disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome SULT1E1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome CTNNB1 disease C0012236 AlteredExpression 0.01 disgenet
DiGeorge Syndrome PINK1 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome SLC7A4 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome SYVN1 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome SCZD12 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome ELN disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome NAAA disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome LAMC1 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome MYZAP disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome SIX1 disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome PLA2G6 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome TCL6 disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome AFP disease C0012236 Biomarker 0.01 disgenet
DiGeorge Syndrome SPECC1L disease C0012236 GeneticVariation 0.01 disgenet
DiGeorge Syndrome CDR3 disease C0012236 Biomarker 0.01 disgenet
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