Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dystrophies, Oculopharyngeal Muscular PABPN1 disease C0270952 CausalMutation 0.9 orphanet , disgenet
Dystrophies, Oculopharyngeal Muscular PABPN1 disease C0270952 AlteredExpression 0.9 orphanet , disgenet
Dystrophies, Oculopharyngeal Muscular PABPN1 disease C0270952 GeneticVariation 0.9 orphanet , disgenet
Dystrophies, Oculopharyngeal Muscular PABPN1 disease C0270952 Biomarker 0.9 orphanet , disgenet
Dystrophies, Oculopharyngeal Muscular NUTM2B-AS1 disease C0270952 Biomarker 0.3 disgenet
Dystrophies, Oculopharyngeal Muscular LRP12 disease C0270952 Biomarker 0.3 disgenet
Dystrophies, Oculopharyngeal Muscular BCL2L2-PABPN1 disease C0270952 GeneticVariation 0.1 disgenet
Dystrophies, Oculopharyngeal Muscular BCL2L2-PABPN1 disease C0270952 CausalMutation 0.1 disgenet
Dystrophies, Oculopharyngeal Muscular PABPC1P2 disease C0270952 Biomarker 0.1 disgenet
Dystrophies, Oculopharyngeal Muscular PABPC1P2 disease C0270952 GeneticVariation 0.1 disgenet
Dystrophies, Oculopharyngeal Muscular GCG disease C0270952 Biomarker 0.1 disgenet
Dystrophies, Oculopharyngeal Muscular GCG disease C0270952 GeneticVariation 0.1 disgenet
Dystrophies, Oculopharyngeal Muscular PABPC1P2 disease C0270952 AlteredExpression 0.1 disgenet
Dystrophies, Oculopharyngeal Muscular NRL disease C0270952 GeneticVariation 0.02 disgenet
Dystrophies, Oculopharyngeal Muscular SYNM disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular BCL2 disease C0270952 AlteredExpression 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular DNAJA1 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular PAX7 disease C0270952 AlteredExpression 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular PRKAA2 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular HNRNPA1 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular HNRNPA2B1 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular SIRT2 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular IL6 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular GCA disease C0270952 GeneticVariation 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular LTBP3 disease C0270952 GeneticVariation 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular SACS disease C0270952 AlteredExpression 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular TGM2 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular PABPC1 disease C0270952 GeneticVariation 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular MSTN disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular TNNT3 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular PRKAB1 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular OPTN disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular PRKAA1 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular FKBP1A disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular MLF1 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular CTNNB1 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular SOD1 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular DNAJB6 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular SIRT1 disease C0270952 Biomarker 0.01 disgenet
Dystrophies, Oculopharyngeal Muscular TARDBP disease C0270952 Biomarker 0.01 disgenet
click here to return to the previous page