Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Coffin-Siris syndrome ARID1B disease C0265338 Biomarker 1 orphanet , disgenet
Coffin-Siris syndrome ARID1B disease C0265338 GeneticVariation 1 orphanet , disgenet
Coffin-Siris syndrome ARID1A disease C0265338 GeneticVariation 0.73 orphanet , disgenet
Coffin-Siris syndrome ARID1A disease C0265338 Biomarker 0.73 orphanet , disgenet
Coffin-Siris syndrome SMARCE1 disease C0265338 GermlineCausalMutation 0.67 orphanet , disgenet
Coffin-Siris syndrome SMARCE1 disease C0265338 Biomarker 0.67 orphanet , disgenet
Coffin-Siris syndrome SMARCE1 disease C0265338 GeneticVariation 0.67 orphanet , disgenet
Coffin-Siris syndrome SOX11 disease C0265338 Biomarker 0.66 orphanet , disgenet
Coffin-Siris syndrome SOX11 disease C0265338 AlteredExpression 0.66 orphanet , disgenet
Coffin-Siris syndrome SOX11 disease C0265338 GermlineCausalMutation 0.66 orphanet , disgenet
Coffin-Siris syndrome SOX11 disease C0265338 GeneticVariation 0.66 orphanet , disgenet
Coffin-Siris syndrome SMARCA1 disease C0265338 Biomarker 0.57 disgenet
Coffin-Siris syndrome SMARCB1 disease C0265338 GeneticVariation 0.57 orphanet , disgenet
Coffin-Siris syndrome SMARCA1 disease C0265338 GeneticVariation 0.57 disgenet
Coffin-Siris syndrome SMARCA4 disease C0265338 Biomarker 0.57 orphanet , disgenet
Coffin-Siris syndrome SMARCB1 disease C0265338 Biomarker 0.57 orphanet , disgenet
Coffin-Siris syndrome SMARCA4 disease C0265338 GeneticVariation 0.57 orphanet , disgenet
Coffin-Siris syndrome SMARCA4 disease C0265338 AlteredExpression 0.57 orphanet , disgenet
Coffin-Siris syndrome SMARCA2 disease C0265338 GeneticVariation 0.53 disgenet
Coffin-Siris syndrome SMARCA2 disease C0265338 Biomarker 0.53 disgenet
Coffin-Siris syndrome ARID2 disease C0265338 GermlineCausalMutation 0.33 orphanet , disgenet
Coffin-Siris syndrome PHF6 disease C0265338 Biomarker 0.33 disgenet
Coffin-Siris syndrome ARID2 disease C0265338 GeneticVariation 0.33 orphanet , disgenet
Coffin-Siris syndrome PHF6 disease C0265338 GeneticVariation 0.33 disgenet
Coffin-Siris syndrome DPF2 disease C0265338 GermlineCausalMutation 0.33 orphanet , disgenet
Coffin-Siris syndrome DPF2 disease C0265338 GeneticVariation 0.33 orphanet , disgenet
Coffin-Siris syndrome SMARCC2 disease C0265338 GermlineCausalMutation 0.3 orphanet , disgenet
Coffin-Siris syndrome SOX4 disease C0265338 GermlineCausalMutation 0.3 orphanet , disgenet
Coffin-Siris syndrome BANF1 disease C0265338 Biomarker 0.1 disgenet
Coffin-Siris syndrome BANF1 disease C0265338 GeneticVariation 0.1 disgenet
Coffin-Siris syndrome WG disease C0265338 Biomarker 0.05 disgenet
Coffin-Siris syndrome WG disease C0265338 GeneticVariation 0.05 disgenet
Coffin-Siris syndrome SDHD disease C0265338 GeneticVariation 0.03 disgenet
Coffin-Siris syndrome SDHD disease C0265338 Biomarker 0.03 disgenet
Coffin-Siris syndrome IL10 disease C0265338 GeneticVariation 0.02 disgenet
Coffin-Siris syndrome SDHC disease C0265338 Biomarker 0.02 disgenet
Coffin-Siris syndrome IL10 disease C0265338 Biomarker 0.02 disgenet
Coffin-Siris syndrome CMAS disease C0265338 AlteredExpression 0.02 disgenet
Coffin-Siris syndrome SDHC disease C0265338 GeneticVariation 0.02 disgenet
Coffin-Siris syndrome CMAS disease C0265338 Biomarker 0.02 disgenet
Coffin-Siris syndrome SDHB disease C0265338 Biomarker 0.02 disgenet
Coffin-Siris syndrome SDHB disease C0265338 GeneticVariation 0.02 disgenet
Coffin-Siris syndrome NIPBL disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome FASLG disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome ITGB2 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome PGR disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome PRTN3 disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome MMP2 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome PTPN22 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome EDN1 disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome TGFB1 disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome TNF disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome IL25 disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome TNFRSF10C disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome MPO disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome IL5 disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome MMP9 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome IL17RB disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome ATR disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome SORD disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome SARDH disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome WNT16 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome CPED1 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome FAM3C disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome CD14 disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome TRBV20OR9-2 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome FAS disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome TGFB2 disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome TNFSF10 disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome SDS disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome PREP disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome ATM disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome SMARCAL1 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome HLA-DRB4 disease C0265338 Biomarker 0.01 disgenet
Coffin-Siris syndrome CCL26 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome MYDGF disease C0265338 AlteredExpression 0.01 disgenet
Coffin-Siris syndrome HLA-DRB1 disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome SET disease C0265338 GeneticVariation 0.01 disgenet
Coffin-Siris syndrome SMARCD1 NA C0265338 NA NA orphanet
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