Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pterygium syndrome, multiple CHRNG disease C0265261 Biomarker 0.78 orphanet , disgenet
Pterygium syndrome, multiple CHRNG disease C0265261 GermlineCausalMutation 0.78 orphanet , disgenet
Pterygium syndrome, multiple CHRNG disease C0265261 GeneticVariation 0.78 orphanet , disgenet
Pterygium syndrome, multiple CHRNG disease C0265261 CausalMutation 0.78 orphanet , disgenet
Pterygium syndrome, multiple TPM2 disease C0265261 Biomarker 0.31 disgenet
Pterygium syndrome, multiple MYH3 disease C0265261 GeneticVariation 0.31 orphanet , disgenet
Pterygium syndrome, multiple MYH3 disease C0265261 GermlineCausalMutation 0.31 orphanet , disgenet
Pterygium syndrome, multiple RYR1 disease C0265261 Biomarker 0.3 disgenet
Pterygium syndrome, multiple PTPN11 disease C0265261 Biomarker 0.2 disgenet
Pterygium syndrome, multiple RAPSN disease C0265261 Biomarker 0.01 disgenet
Pterygium syndrome, multiple GBE1 disease C0265261 GeneticVariation 0.01 disgenet
Pterygium syndrome, multiple ACHE disease C0265261 Biomarker 0.01 disgenet
Pterygium syndrome, multiple IRF6 disease C0265261 GeneticVariation 0.01 disgenet
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