Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Aarskog Syndrome FGD1 disease C0175701 Biomarker 0.8 orphanet , disgenet
Aarskog Syndrome FGD1 disease C0175701 GermlineCausalMutation 0.8 orphanet , disgenet
Aarskog Syndrome FGD1 disease C0175701 AlteredExpression 0.8 orphanet , disgenet
Aarskog Syndrome FGD1 disease C0175701 GeneticVariation 0.8 orphanet , disgenet
Aarskog Syndrome FGD1 disease C0175701 CausalMutation 0.8 orphanet , disgenet
Aarskog Syndrome SOS1 disease C0175701 GeneticVariation 0.23 disgenet
Aarskog Syndrome SOS1 disease C0175701 AlteredExpression 0.23 disgenet
Aarskog Syndrome SOS1 disease C0175701 Biomarker 0.23 disgenet
Aarskog Syndrome KRAS disease C0175701 Biomarker 0.2 disgenet
Aarskog Syndrome RIT1 disease C0175701 Biomarker 0.2 disgenet
Aarskog Syndrome ATR disease C0175701 Biomarker 0.2 disgenet
Aarskog Syndrome CEP63 disease C0175701 Biomarker 0.2 disgenet
Aarskog Syndrome PTPN11 disease C0175701 Biomarker 0.2 disgenet
Aarskog Syndrome LZTR1 disease C0175701 Biomarker 0.2 disgenet
Aarskog Syndrome CENPJ disease C0175701 Biomarker 0.2 disgenet
Aarskog Syndrome RAF1 disease C0175701 Biomarker 0.2 disgenet
Aarskog Syndrome TSR2 disease C0175701 GeneticVariation 0.1 disgenet
Aarskog Syndrome POMC disease C0175701 GeneticVariation 0.1 disgenet
Aarskog Syndrome MC2R disease C0175701 Biomarker 0.1 disgenet
Aarskog Syndrome POMC disease C0175701 AlteredExpression 0.1 disgenet
Aarskog Syndrome MC2R disease C0175701 GeneticVariation 0.1 disgenet
Aarskog Syndrome POMC disease C0175701 Biomarker 0.1 disgenet
Aarskog Syndrome MRAP disease C0175701 GeneticVariation 0.08 disgenet
Aarskog Syndrome MRAP disease C0175701 Biomarker 0.08 disgenet
Aarskog Syndrome NNT disease C0175701 GeneticVariation 0.06 disgenet
Aarskog Syndrome STAR disease C0175701 GeneticVariation 0.06 disgenet
Aarskog Syndrome NNT disease C0175701 Biomarker 0.06 disgenet
Aarskog Syndrome TXNRD2 disease C0175701 Biomarker 0.04 disgenet
Aarskog Syndrome TXNRD2 disease C0175701 GeneticVariation 0.04 disgenet
Aarskog Syndrome RASGRF1 disease C0175701 GeneticVariation 0.03 disgenet
Aarskog Syndrome SLC2A4RG disease C0175701 GeneticVariation 0.03 disgenet
Aarskog Syndrome ARHGEF2 disease C0175701 GeneticVariation 0.03 disgenet
Aarskog Syndrome RASGRF1 disease C0175701 AlteredExpression 0.03 disgenet
Aarskog Syndrome FGD5 disease C0175701 GeneticVariation 0.02 disgenet
Aarskog Syndrome CYP11A1 disease C0175701 Biomarker 0.02 disgenet
Aarskog Syndrome CYP11A1 disease C0175701 GeneticVariation 0.02 disgenet
Aarskog Syndrome FGD5 disease C0175701 Biomarker 0.02 disgenet
Aarskog Syndrome SGPL1 disease C0175701 GeneticVariation 0.02 disgenet
Aarskog Syndrome GLI3 disease C0175701 GeneticVariation 0.02 disgenet
Aarskog Syndrome PLEK disease C0175701 GeneticVariation 0.02 disgenet
Aarskog Syndrome SGPL1 disease C0175701 Biomarker 0.02 disgenet
Aarskog Syndrome MCM4 disease C0175701 Biomarker 0.02 disgenet
Aarskog Syndrome TRGC1 disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome DECR1 disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome TRG disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome PGAM2 disease C0175701 Biomarker 0.01 disgenet
Aarskog Syndrome SMOC1 disease C0175701 Biomarker 0.01 disgenet
Aarskog Syndrome GH1 disease C0175701 Biomarker 0.01 disgenet
Aarskog Syndrome FGD3 disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome TXNRD3 disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome MC1R disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome CDC42 disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome AAAS disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome TARP disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome CDKN1C disease C0175701 AlteredExpression 0.01 disgenet
Aarskog Syndrome BCL2 disease C0175701 AlteredExpression 0.01 disgenet
Aarskog Syndrome ACTB disease C0175701 GeneticVariation 0.01 disgenet
Aarskog Syndrome PGK1P1 disease C0175701 GeneticVariation 0.01 disgenet
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