Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Arterial Tortuosity Syndrome SLC2A10 disease C1859726 Biomarker 0.8 orphanet , disgenet
Arterial Tortuosity Syndrome SLC2A10 disease C1859726 AlteredExpression 0.8 orphanet , disgenet
Arterial Tortuosity Syndrome SLC2A10 disease C1859726 GermlineCausalMutation 0.8 orphanet , disgenet
Arterial Tortuosity Syndrome SLC2A10 disease C1859726 CausalMutation 0.8 orphanet , disgenet
Arterial Tortuosity Syndrome SLC2A10 disease C1859726 GeneticVariation 0.8 orphanet , disgenet
Arterial Tortuosity Syndrome MUS81 disease C1859726 Biomarker 0.2 disgenet
Arterial Tortuosity Syndrome TGFBR1 disease C1859726 GeneticVariation 0.13 disgenet
Arterial Tortuosity Syndrome TGFBR1 disease C1859726 Biomarker 0.13 disgenet
Arterial Tortuosity Syndrome TGFBR2 disease C1859726 GeneticVariation 0.12 disgenet
Arterial Tortuosity Syndrome TGFBR2 disease C1859726 Biomarker 0.12 disgenet
Arterial Tortuosity Syndrome TGFB2 disease C1859726 GeneticVariation 0.11 disgenet
Arterial Tortuosity Syndrome SMAD3 disease C1859726 Biomarker 0.11 disgenet
Arterial Tortuosity Syndrome SMAD3 disease C1859726 GeneticVariation 0.11 disgenet
Arterial Tortuosity Syndrome TGFB2 disease C1859726 Biomarker 0.11 disgenet
Arterial Tortuosity Syndrome NT5E disease C1859726 Biomarker 0.1 disgenet
Arterial Tortuosity Syndrome COL4A4 disease C1859726 GeneticVariation 0.08 disgenet
Arterial Tortuosity Syndrome SLC2A11 disease C1859726 Biomarker 0.08 disgenet
Arterial Tortuosity Syndrome COL4A4 disease C1859726 Biomarker 0.08 disgenet
Arterial Tortuosity Syndrome SLC2A11 disease C1859726 AlteredExpression 0.08 disgenet
Arterial Tortuosity Syndrome SLC2A11 disease C1859726 GeneticVariation 0.08 disgenet
Arterial Tortuosity Syndrome COL4A3 disease C1859726 GeneticVariation 0.06 disgenet
Arterial Tortuosity Syndrome COL4A5 disease C1859726 Biomarker 0.06 disgenet
Arterial Tortuosity Syndrome COL4A3 disease C1859726 Biomarker 0.06 disgenet
Arterial Tortuosity Syndrome COL4A5 disease C1859726 GeneticVariation 0.06 disgenet
Arterial Tortuosity Syndrome UBE2I disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome H3P12 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome SUB1 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome PON1 disease C1859726 GeneticVariation 0.01 disgenet
Arterial Tortuosity Syndrome CDKN2C disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome ZNF197 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome ATRAID disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome MAFK disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome TNXB disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome FN1 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome H3P9 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome COL4A1 disease C1859726 GeneticVariation 0.01 orphanet , disgenet
Arterial Tortuosity Syndrome EEF1E1 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome LAMTOR1 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome APOE disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome SLC2A1 disease C1859726 GeneticVariation 0.01 disgenet
Arterial Tortuosity Syndrome CDKN2B disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome MRPL28 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome TPPP2 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome MYH9 disease C1859726 GeneticVariation 0.01 disgenet
Arterial Tortuosity Syndrome P4HB disease C1859726 GeneticVariation 0.01 disgenet
Arterial Tortuosity Syndrome MTHFR disease C1859726 GeneticVariation 0.01 disgenet
Arterial Tortuosity Syndrome NXT1 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome CFL1 disease C1859726 Biomarker 0.01 disgenet
Arterial Tortuosity Syndrome EFEMP2 disease C1859726 GeneticVariation 0.01 disgenet
Arterial Tortuosity Syndrome ELN disease C1859726 Biomarker 0.01 disgenet
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