Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Coffin Lowry Syndrome RPS6KA3 disease C0265252 Biomarker 1 orphanet , disgenet
Coffin Lowry Syndrome RPS6KA3 disease C0265252 AlteredExpression 1 orphanet , disgenet
Coffin Lowry Syndrome RPS6KA3 disease C0265252 CausalMutation 1 orphanet , disgenet
Coffin Lowry Syndrome RPS6KA3 disease C0265252 GeneticVariation 1 orphanet , disgenet
Coffin Lowry Syndrome RPS6 disease C0265252 Biomarker 0.03 disgenet
Coffin Lowry Syndrome LRP4 disease C0265252 GeneticVariation 0.03 disgenet
Coffin Lowry Syndrome RPS6 disease C0265252 GeneticVariation 0.03 disgenet
Coffin Lowry Syndrome HSD17B6 disease C0265252 AlteredExpression 0.01 disgenet
Coffin Lowry Syndrome PQBP1 disease C0265252 GeneticVariation 0.01 disgenet
Coffin Lowry Syndrome MUC6 disease C0265252 AlteredExpression 0.01 disgenet
Coffin Lowry Syndrome KRT20 disease C0265252 AlteredExpression 0.01 disgenet
Coffin Lowry Syndrome COL2A1 disease C0265252 GeneticVariation 0.01 disgenet
Coffin Lowry Syndrome HSF1 disease C0265252 AlteredExpression 0.01 disgenet
Coffin Lowry Syndrome MAPKAP1 disease C0265252 GeneticVariation 0.01 disgenet
Coffin Lowry Syndrome DMD disease C0265252 Biomarker 0.01 disgenet
Coffin Lowry Syndrome IL1RAPL1 disease C0265252 GeneticVariation 0.01 disgenet
Coffin Lowry Syndrome C17orf97 disease C0265252 AlteredExpression 0.01 disgenet
Coffin Lowry Syndrome AFF2 disease C0265252 GeneticVariation 0.01 disgenet
Coffin Lowry Syndrome PDHA1 disease C0265252 GeneticVariation 0.01 disgenet
Coffin Lowry Syndrome WRN disease C0265252 GeneticVariation 0.01 disgenet
Coffin Lowry Syndrome MBTPS2 disease C0265252 Biomarker 0.01 disgenet
Coffin Lowry Syndrome MUC5AC disease C0265252 AlteredExpression 0.01 disgenet
Coffin Lowry Syndrome EDNRB disease C0265252 GeneticVariation 0.01 disgenet
Coffin Lowry Syndrome DLG3 disease C0265252 Biomarker 0.01 disgenet
Coffin Lowry Syndrome CRLS1 disease C0265252 Biomarker 0.01 disgenet
Coffin Lowry Syndrome CREB1 disease C0265252 Biomarker 0.01 disgenet
Coffin Lowry Syndrome ARX disease C0265252 GeneticVariation 0.01 disgenet
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