Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cyanoses CYB5R3 phenotype C0010520 Biomarker 0.43 disgenet
Cyanoses TGFB2 phenotype C0010520 Biomarker 0.3 disgenet
Cyanoses ADRA2B phenotype C0010520 Biomarker 0.3 disgenet
Cyanoses HBB phenotype C0010520 Biomarker 0.3 disgenet
Cyanoses HBG2 phenotype C0010520 AlteredExpression 0.15 disgenet
Cyanoses HBG2 phenotype C0010520 GeneticVariation 0.15 disgenet
Cyanoses HBG2 phenotype C0010520 Biomarker 0.15 disgenet
Cyanoses CHAT phenotype C0010520 Biomarker 0.11 disgenet
Cyanoses CHAT phenotype C0010520 GeneticVariation 0.11 disgenet
Cyanoses SCN4A phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SLC18A3 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses ENG phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses RBM10 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SLC25A3 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses DOK7 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SNAP25 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses AK9 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses ACVRL1 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SLC25A1 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses MUSK phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses COL13A1 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses PCK1 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SYT2 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses ZMPSTE24 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses GJA1 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses MMP21 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses AGRN phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses VAMP1 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses MYO9A phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses CYB5A phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses PRKAG2 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses LRP4 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses RAPSN phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses CHRNA1 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SLC25A20 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses ALG8 phenotype C0010520 CausalMutation 0.1 disgenet
Cyanoses LMNA phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SLC2A1 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses TMEM260 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses CHRNB1 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SCN2A phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses CHRNE phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SFTPB phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SFTPC phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses SLC5A7 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses ZIC3 phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses CHRND phenotype C0010520 Biomarker 0.1 disgenet
Cyanoses ASXL1 phenotype C0010520 Biomarker 0.01 disgenet
Cyanoses BRCA2 phenotype C0010520 GeneticVariation 0.01 disgenet
Cyanoses HBA1 phenotype C0010520 GeneticVariation 0.01 disgenet
Cyanoses PPARGC1A phenotype C0010520 AlteredExpression 0.01 disgenet
Cyanoses ALDH2 phenotype C0010520 AlteredExpression 0.01 disgenet
Cyanoses PSEN1 phenotype C0010520 GeneticVariation 0.01 disgenet
Cyanoses HBA2 phenotype C0010520 GeneticVariation 0.01 disgenet
Cyanoses MYH10 phenotype C0010520 GeneticVariation 0.01 disgenet
Cyanoses CRP phenotype C0010520 AlteredExpression 0.01 disgenet
Cyanoses FANCD2 phenotype C0010520 GeneticVariation 0.01 disgenet
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