Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cayler cardiofacial syndrome EYA1 disease C0431406 Biomarker 0.31 disgenet
Cayler cardiofacial syndrome EYA1 disease C0431406 GeneticVariation 0.31 disgenet
Cayler cardiofacial syndrome TBX1 disease C0431406 ChromosomalRearrangement 0.3 disgenet
Cayler cardiofacial syndrome JMJD1C disease C0431406 GermlineModifyingMutation 0.3 disgenet
Cayler cardiofacial syndrome RREB1 disease C0431406 GermlineModifyingMutation 0.3 disgenet
Cayler cardiofacial syndrome COMT disease C0431406 ChromosomalRearrangement 0.3 disgenet
Cayler cardiofacial syndrome ARVCF disease C0431406 ChromosomalRearrangement 0.3 disgenet
Cayler cardiofacial syndrome UFD1 disease C0431406 ChromosomalRearrangement 0.3 disgenet
Cayler cardiofacial syndrome SEC24C disease C0431406 GermlineModifyingMutation 0.3 disgenet
Cayler cardiofacial syndrome GP1BB disease C0431406 ChromosomalRearrangement 0.3 disgenet
Cayler cardiofacial syndrome HIRA disease C0431406 ChromosomalRearrangement 0.3 disgenet
Cayler cardiofacial syndrome TBX1 disease C0431406 GermlineCausalMutation 0.3 disgenet
Cayler cardiofacial syndrome CHD7 disease C0431406 CausalMutation 0.1 disgenet
Cayler cardiofacial syndrome KCNMA1 disease C0431406 CausalMutation 0.1 disgenet
Cayler cardiofacial syndrome KCNMA1-AS1 disease C0431406 CausalMutation 0.1 disgenet
Cayler cardiofacial syndrome PIGN disease C0431406 Biomarker 0.1 disgenet
Cayler cardiofacial syndrome MMP9 disease C0431406 AlteredExpression 0.01 disgenet
Cayler cardiofacial syndrome DES disease C0431406 Biomarker 0.01 disgenet
Cayler cardiofacial syndrome FASN disease C0431406 AlteredExpression 0.01 disgenet
Cayler cardiofacial syndrome MMP2 disease C0431406 AlteredExpression 0.01 disgenet
Cayler cardiofacial syndrome CRYAB disease C0431406 GeneticVariation 0.01 disgenet
Cayler cardiofacial syndrome AR disease C0431406 Biomarker 0.01 disgenet
Cayler cardiofacial syndrome CMA1 disease C0431406 Biomarker 0.01 disgenet
Cayler cardiofacial syndrome CASP3 disease C0431406 AlteredExpression 0.01 disgenet
Cayler cardiofacial syndrome FOXO4 disease C0431406 Biomarker 0.01 disgenet
Cayler cardiofacial syndrome MIR122 disease C0431406 AlteredExpression 0.01 disgenet
Cayler cardiofacial syndrome BAX disease C0431406 AlteredExpression 0.01 disgenet
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