Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Aortic Stenosis, Supravalvular ELN disease C0003499 CausalMutation 0.8 orphanet , disgenet
Aortic Stenosis, Supravalvular ELN disease C0003499 Biomarker 0.8 orphanet , disgenet
Aortic Stenosis, Supravalvular ELN disease C0003499 GeneticVariation 0.8 orphanet , disgenet
Aortic Stenosis, Supravalvular ELN disease C0003499 GermlineCausalMutation 0.8 orphanet , disgenet
Aortic Stenosis, Supravalvular CASQ2 disease C0003499 ModifyingMutation 0.2 disgenet
Aortic Stenosis, Supravalvular GTF2IRD1 disease C0003499 Biomarker 0.11 disgenet
Aortic Stenosis, Supravalvular TBL2 disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular MLXIPL disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular ABCG5 disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular BAZ1B disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular RFC2 disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular GTF2I disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular LDLRAP1 disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular CLIP2 disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular ABCG8 disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular PTPN11 disease C0003499 CausalMutation 0.1 disgenet
Aortic Stenosis, Supravalvular LDLR disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular APOB disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular ELN-AS1 disease C0003499 CausalMutation 0.1 disgenet
Aortic Stenosis, Supravalvular PCSK9 disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular ELN-AS1 disease C0003499 GeneticVariation 0.1 disgenet
Aortic Stenosis, Supravalvular FBLN5 disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular LIMK1 disease C0003499 Biomarker 0.1 disgenet
Aortic Stenosis, Supravalvular FBN1 disease C0003499 GeneticVariation 0.02 disgenet
Aortic Stenosis, Supravalvular FBN1 disease C0003499 Biomarker 0.02 disgenet
Aortic Stenosis, Supravalvular CALCA disease C0003499 Biomarker 0.01 disgenet
Aortic Stenosis, Supravalvular ITGB3 disease C0003499 Biomarker 0.01 disgenet
Aortic Stenosis, Supravalvular PDLIM1 disease C0003499 GeneticVariation 0.01 disgenet
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