Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Holt-Oram syndrome TBX5 disease C0265264 Biomarker 1 orphanet , disgenet
Holt-Oram syndrome TBX5 disease C0265264 AlteredExpression 1 orphanet , disgenet
Holt-Oram syndrome TBX5 disease C0265264 GeneticVariation 1 orphanet , disgenet
Holt-Oram syndrome TBX5 disease C0265264 CausalMutation 1 orphanet , disgenet
Holt-Oram syndrome SALL4 disease C0265264 Biomarker 0.35 disgenet
Holt-Oram syndrome SALL4 disease C0265264 GeneticVariation 0.35 disgenet
Holt-Oram syndrome SMOC1 disease C0265264 Biomarker 0.2 disgenet
Holt-Oram syndrome TGFB2 disease C0265264 GeneticVariation 0.1 disgenet
Holt-Oram syndrome TGFB2 disease C0265264 CausalMutation 0.1 disgenet
Holt-Oram syndrome TBX1 disease C0265264 Biomarker 0.02 disgenet
Holt-Oram syndrome GJA5 disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome ATN1 disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome PCNA disease C0265264 AlteredExpression 0.01 disgenet
Holt-Oram syndrome KLF13 disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome TRIM66 disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome RAC1 disease C0265264 GeneticVariation 0.01 disgenet
Holt-Oram syndrome PPARG disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome BMP4 disease C0265264 GeneticVariation 0.01 disgenet
Holt-Oram syndrome NFE2L2 disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome VDR disease C0265264 AlteredExpression 0.01 disgenet
Holt-Oram syndrome SRSF2 disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome PECAM1 disease C0265264 AlteredExpression 0.01 disgenet
Holt-Oram syndrome ERG disease C0265264 GeneticVariation 0.01 disgenet
Holt-Oram syndrome TBX3 disease C0265264 GeneticVariation 0.01 disgenet
Holt-Oram syndrome BCL2 disease C0265264 AlteredExpression 0.01 disgenet
Holt-Oram syndrome LMNA disease C0265264 GeneticVariation 0.01 orphanet , disgenet
Holt-Oram syndrome MET disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome TAZ disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome RASSF1 disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome NKX2-5 disease C0265264 GeneticVariation 0.01 disgenet
Holt-Oram syndrome TFAP2B disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome SERPINA1 disease C0265264 Biomarker 0.01 disgenet
Holt-Oram syndrome TPR disease C0265264 Biomarker 0.01 disgenet
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