Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Atrioventricular Septal Defect GATA6 disease C1389018 Biomarker 0.4 orphanet , disgenet
Atrioventricular Septal Defect GATA4 disease C1389018 GeneticVariation 0.32 orphanet , disgenet
Atrioventricular Septal Defect GATA4 disease C1389018 Biomarker 0.32 orphanet , disgenet
Atrioventricular Septal Defect GJA1 disease C1389018 Biomarker 0.3 disgenet
Atrioventricular Septal Defect GDF1 disease C1389018 GeneticVariation 0.11 disgenet
Atrioventricular Septal Defect TBX1 disease C1389018 GeneticVariation 0.11 disgenet
Atrioventricular Septal Defect TBX5 disease C1389018 GeneticVariation 0.11 disgenet
Atrioventricular Septal Defect TBX1 disease C1389018 Biomarker 0.11 disgenet
Atrioventricular Septal Defect GDF1 disease C1389018 Biomarker 0.11 disgenet
Atrioventricular Septal Defect PTPN11 disease C1389018 CausalMutation 0.1 disgenet
Atrioventricular Septal Defect GATA1 disease C1389018 Biomarker 0.1 disgenet
Atrioventricular Septal Defect NKX2-6 disease C1389018 Biomarker 0.1 disgenet
Atrioventricular Septal Defect HDAC8 disease C1389018 CausalMutation 0.1 disgenet
Atrioventricular Septal Defect CDC45 disease C1389018 Biomarker 0.1 disgenet
Atrioventricular Septal Defect NKX2-5 disease C1389018 Biomarker 0.1 orphanet , disgenet
Atrioventricular Septal Defect INTU disease C1389018 Biomarker 0.1 disgenet
Atrioventricular Septal Defect SMARCA4 disease C1389018 GeneticVariation 0.1 disgenet
Atrioventricular Septal Defect WDPCP disease C1389018 Biomarker 0.1 disgenet
Atrioventricular Septal Defect SMARCAL1 disease C1389018 CausalMutation 0.1 disgenet
Atrioventricular Septal Defect ANKRD11 disease C1389018 GeneticVariation 0.1 disgenet
Atrioventricular Septal Defect TRIO disease C1389018 Biomarker 0.1 disgenet
Atrioventricular Septal Defect HYLS1 disease C1389018 Biomarker 0.1 disgenet
Atrioventricular Septal Defect PUF60 disease C1389018 Biomarker 0.1 disgenet
Atrioventricular Septal Defect CRELD1 disease C1389018 GeneticVariation 0.05 orphanet , disgenet
Atrioventricular Septal Defect CRELD1 disease C1389018 Biomarker 0.05 orphanet , disgenet
Atrioventricular Septal Defect BMP4 disease C1389018 Biomarker 0.02 disgenet
Atrioventricular Septal Defect HEY2 disease C1389018 AlteredExpression 0.02 disgenet
Atrioventricular Septal Defect HEY2 disease C1389018 Biomarker 0.02 disgenet
Atrioventricular Septal Defect BMP2 disease C1389018 AlteredExpression 0.02 disgenet
Atrioventricular Septal Defect TBX2 disease C1389018 AlteredExpression 0.02 disgenet
Atrioventricular Septal Defect PITX2 disease C1389018 AlteredExpression 0.02 disgenet
Atrioventricular Septal Defect PITX2 disease C1389018 Biomarker 0.02 disgenet
Atrioventricular Septal Defect BMP4 disease C1389018 AlteredExpression 0.02 disgenet
Atrioventricular Septal Defect MYL7 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect BAZ2B disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect FOXP1 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect NPNT disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect ACVR1 disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect HAND2 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect MED12 disease C1389018 AlteredExpression 0.01 disgenet
Atrioventricular Septal Defect MDM4 disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect HTC2 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect ACE disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect TFAP2B disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect CEMIP2 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect SLC19A1 disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect AUTS2 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect RUNX2 disease C1389018 AlteredExpression 0.01 disgenet
Atrioventricular Septal Defect CHDH disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect IFT172 disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect SNAI1 disease C1389018 AlteredExpression 0.01 disgenet
Atrioventricular Septal Defect SALL4 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect CASP3 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect ETV5 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect SOX9 disease C1389018 AlteredExpression 0.01 disgenet
Atrioventricular Septal Defect IFT27 disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect CHD7 disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect ZIC3 disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect NEXMIF disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect IL1B disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect AVSD1 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect TAMM41 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect MTR disease C1389018 GeneticVariation 0.01 disgenet
Atrioventricular Septal Defect RBM24 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect NFATC1 disease C1389018 Biomarker 0.01 disgenet
Atrioventricular Septal Defect NR2F2 NA C1389018 NA NA orphanet
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