Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndrome, CHARGE CHD7 disease C0265354 PosttranslationalModification 1 orphanet , disgenet
Syndrome, CHARGE CHD7 disease C0265354 AlteredExpression 1 orphanet , disgenet
Syndrome, CHARGE CHD7 disease C0265354 CausalMutation 1 orphanet , disgenet
Syndrome, CHARGE CHD7 disease C0265354 GeneticVariation 1 orphanet , disgenet
Syndrome, CHARGE CHD7 disease C0265354 Biomarker 1 orphanet , disgenet
Syndrome, CHARGE SEMA3E disease C0265354 Biomarker 0.73 orphanet , disgenet
Syndrome, CHARGE SEMA3E disease C0265354 GeneticVariation 0.73 orphanet , disgenet
Syndrome, CHARGE SEMA3E disease C0265354 CausalMutation 0.73 orphanet , disgenet
Syndrome, CHARGE CHD2 disease C0265354 Biomarker 0.22 disgenet
Syndrome, CHARGE TP53 disease C0265354 Biomarker 0.21 disgenet
Syndrome, CHARGE CHD8 disease C0265354 Biomarker 0.03 disgenet
Syndrome, CHARGE GALNT3 disease C0265354 GeneticVariation 0.02 disgenet
Syndrome, CHARGE KMT2D disease C0265354 GeneticVariation 0.02 disgenet
Syndrome, CHARGE GLUD1 disease C0265354 GeneticVariation 0.02 disgenet
Syndrome, CHARGE KMT2D disease C0265354 Biomarker 0.02 disgenet
Syndrome, CHARGE ZNF385B disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE GADL1 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE FGF8 disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE FAM172A disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE BRD2 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE PAX2 disease C0265354 AlteredExpression 0.01 disgenet
Syndrome, CHARGE SMARCA4 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE KDM2B disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE FMR1 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE IGFALS disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE SEMA3A disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE CHDH disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE TCHP disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE NR0B1 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE FOXN1 disease C0265354 AlteredExpression 0.01 disgenet
Syndrome, CHARGE SLC12A3 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE SOD1 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE SALL4 disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE FOXE1 disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE MTG1 disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE SCN2A disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE MBD2 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE ZIC1 disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE FAM124B disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE PECAM1 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE VIP disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE CAPRIN1 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE STATH disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE IL6 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE KCNQ2 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE WASHC5 disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE AZIN2 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE SMARCA2 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE HTC2 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE RERE disease C0265354 GeneticVariation 0.01 disgenet
Syndrome, CHARGE SOX2 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE SMARCA1 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE NRXN1 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE COA1 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE AFF2 disease C0265354 Biomarker 0.01 disgenet
Syndrome, CHARGE LEP disease C0265354 Biomarker 0.01 disgenet
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