Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Arthrogryposis multiplex congenita, distal type 1 TPM2 disease C0220662 CausalMutation 0.73 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 TPM2 disease C0220662 GeneticVariation 0.73 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 TPM2 disease C0220662 GermlineCausalMutation 0.73 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 TPM2 disease C0220662 Biomarker 0.73 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 TNNI2 disease C0220662 GermlineCausalMutation 0.54 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 TNNI2 disease C0220662 Biomarker 0.54 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 TNNI2 disease C0220662 GeneticVariation 0.54 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 TNNT3 disease C0220662 GermlineCausalMutation 0.52 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 TNNT3 disease C0220662 Biomarker 0.52 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 TNNT3 disease C0220662 GeneticVariation 0.52 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 MYH3 disease C0220662 GeneticVariation 0.34 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 MYH3 disease C0220662 Biomarker 0.34 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 MYH3 disease C0220662 GermlineCausalMutation 0.34 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 MYBPC1 disease C0220662 GermlineCausalMutation 0.32 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 MYBPC1 disease C0220662 GeneticVariation 0.32 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 MYBPC1 disease C0220662 Biomarker 0.32 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 NALCN disease C0220662 GermlineCausalMutation 0.3 orphanet , disgenet
Arthrogryposis multiplex congenita, distal type 1 ECEL1 disease C0220662 Biomarker 0.2 disgenet
Arthrogryposis multiplex congenita, distal type 1 FBN2 disease C0220662 Biomarker 0.2 disgenet
Arthrogryposis multiplex congenita, distal type 1 CNTNAP1 disease C0220662 CausalMutation 0.1 disgenet
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