Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Distal arthrogryposis type 2B TNNI2 disease C1834523 GeneticVariation 0.96 orphanet , disgenet
Distal arthrogryposis type 2B TNNI2 disease C1834523 CausalMutation 0.96 orphanet , disgenet
Distal arthrogryposis type 2B TNNI2 disease C1834523 Biomarker 0.96 orphanet , disgenet
Distal arthrogryposis type 2B TNNI2 disease C1834523 GermlineCausalMutation 0.96 orphanet , disgenet
Distal arthrogryposis type 2B MYH3 disease C1834523 GermlineCausalMutation 0.69 orphanet , disgenet
Distal arthrogryposis type 2B MYH3 disease C1834523 Biomarker 0.69 orphanet , disgenet
Distal arthrogryposis type 2B MYH3 disease C1834523 GeneticVariation 0.69 orphanet , disgenet
Distal arthrogryposis type 2B TPM2 disease C1834523 Biomarker 0.55 orphanet , disgenet
Distal arthrogryposis type 2B TPM2 disease C1834523 GermlineCausalMutation 0.55 orphanet , disgenet
Distal arthrogryposis type 2B TPM2 disease C1834523 GeneticVariation 0.55 orphanet , disgenet
Distal arthrogryposis type 2B TNNT3 disease C1834523 GeneticVariation 0.52 orphanet , disgenet
Distal arthrogryposis type 2B TNNT3 disease C1834523 GermlineCausalMutation 0.52 orphanet , disgenet
Distal arthrogryposis type 2B TNNT3 disease C1834523 Biomarker 0.52 orphanet , disgenet
Distal arthrogryposis type 2B PIEZO2 disease C1834523 GermlineCausalMutation 0.3 disgenet
Distal arthrogryposis type 2B NALCN disease C1834523 GermlineCausalMutation 0.3 orphanet , disgenet
Distal arthrogryposis type 2B ECEL1 disease C1834523 Biomarker 0.2 disgenet
Distal arthrogryposis type 2B FBN2 disease C1834523 Biomarker 0.2 disgenet
Distal arthrogryposis type 2B SIRT1 disease C1834523 AlteredExpression 0.01 disgenet
Distal arthrogryposis type 2B CRK disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B MAPK14 disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B HIF3A disease C1834523 AlteredExpression 0.01 disgenet
Distal arthrogryposis type 2B RNF19A disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B TNF disease C1834523 AlteredExpression 0.01 disgenet
Distal arthrogryposis type 2B HSP90AA1 disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B RUNX2 disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B MAPK1 disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B HIF1A disease C1834523 AlteredExpression 0.01 disgenet
Distal arthrogryposis type 2B IL1B disease C1834523 AlteredExpression 0.01 disgenet
Distal arthrogryposis type 2B GRAP2 disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B AHSA1 disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B GSTM2 disease C1834523 GeneticVariation 0.01 disgenet
Distal arthrogryposis type 2B STS disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B POLDIP2 disease C1834523 Biomarker 0.01 disgenet
Distal arthrogryposis type 2B AIMP2 disease C1834523 Biomarker 0.01 disgenet
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