Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ablepharon macrostomia syndrome TWIST2 disease C1860224 GermlineCausalMutation 0.73 orphanet , disgenet
Ablepharon macrostomia syndrome TWIST2 disease C1860224 Biomarker 0.73 orphanet , disgenet
Ablepharon macrostomia syndrome TWIST2 disease C1860224 GeneticVariation 0.73 orphanet , disgenet
Ablepharon macrostomia syndrome TWIST2 disease C1860224 CausalMutation 0.73 orphanet , disgenet
Ablepharon macrostomia syndrome HIF1A disease C1860224 GeneticVariation 0.05 disgenet
Ablepharon macrostomia syndrome HIF1A disease C1860224 Biomarker 0.05 disgenet
Ablepharon macrostomia syndrome ACE disease C1860224 GeneticVariation 0.04 disgenet
Ablepharon macrostomia syndrome VEGFA disease C1860224 Biomarker 0.03 disgenet
Ablepharon macrostomia syndrome EGLN1 disease C1860224 Biomarker 0.03 disgenet
Ablepharon macrostomia syndrome EGLN1 disease C1860224 GeneticVariation 0.03 disgenet
Ablepharon macrostomia syndrome SETD2 disease C1860224 GeneticVariation 0.03 disgenet
Ablepharon macrostomia syndrome VEGFA disease C1860224 GeneticVariation 0.03 disgenet
Ablepharon macrostomia syndrome SETD2 disease C1860224 Biomarker 0.03 disgenet
Ablepharon macrostomia syndrome NOS3 disease C1860224 GeneticVariation 0.02 disgenet
Ablepharon macrostomia syndrome EPAS1 disease C1860224 GeneticVariation 0.02 disgenet
Ablepharon macrostomia syndrome EPO disease C1860224 GeneticVariation 0.02 disgenet
Ablepharon macrostomia syndrome EPO disease C1860224 Biomarker 0.02 disgenet
Ablepharon macrostomia syndrome NFE2L2 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome HP disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome FOXO4 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome IL6 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome ADRB2 disease C1860224 GeneticVariation 0.01 disgenet
Ablepharon macrostomia syndrome SPP1 disease C1860224 AlteredExpression 0.01 disgenet
Ablepharon macrostomia syndrome MDM2 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome SAT1 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome TNF disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome TRIM23 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome NAA10 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome COPD disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome GTF2H5 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome BDKRB2 disease C1860224 GeneticVariation 0.01 disgenet
Ablepharon macrostomia syndrome IL10 disease C1860224 AlteredExpression 0.01 disgenet
Ablepharon macrostomia syndrome GABPA disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome PPP1R8 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome BDKRB1 disease C1860224 GeneticVariation 0.01 disgenet
Ablepharon macrostomia syndrome AGT disease C1860224 GeneticVariation 0.01 disgenet
Ablepharon macrostomia syndrome FAM149A disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome RACK1 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome ERCC2 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome GNB3 disease C1860224 GeneticVariation 0.01 disgenet
Ablepharon macrostomia syndrome MIR4791 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome MIR15B disease C1860224 AlteredExpression 0.01 disgenet
Ablepharon macrostomia syndrome MIR136 disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome HIF1AN disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome MIR134 disease C1860224 AlteredExpression 0.01 disgenet
Ablepharon macrostomia syndrome HSPA4 disease C1860224 GeneticVariation 0.01 disgenet
Ablepharon macrostomia syndrome CCL8 disease C1860224 AlteredExpression 0.01 disgenet
Ablepharon macrostomia syndrome MBP disease C1860224 Biomarker 0.01 disgenet
Ablepharon macrostomia syndrome KNG1 disease C1860224 GeneticVariation 0.01 disgenet
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