Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Fibromatosis, Congenital Generalized PDGFRB disease C0432284 Biomarker 1 orphanet , disgenet
Fibromatosis, Congenital Generalized PDGFRB disease C0432284 GeneticVariation 1 orphanet , disgenet
Fibromatosis, Congenital Generalized PDGFRB disease C0432284 GermlineCausalMutation 1 orphanet , disgenet
Fibromatosis, Congenital Generalized PDGFRB disease C0432284 CausalMutation 1 orphanet , disgenet
Fibromatosis, Congenital Generalized NOTCH3 disease C0432284 GermlineCausalMutation 0.61 orphanet , disgenet
Fibromatosis, Congenital Generalized NOTCH3 disease C0432284 Biomarker 0.61 orphanet , disgenet
Fibromatosis, Congenital Generalized SMUG1 disease C0432284 Biomarker 0.02 disgenet
Fibromatosis, Congenital Generalized ACTB disease C0432284 GeneticVariation 0.02 disgenet
Fibromatosis, Congenital Generalized ACTB disease C0432284 Biomarker 0.02 disgenet
Fibromatosis, Congenital Generalized COX8A disease C0432284 Biomarker 0.01 disgenet
Fibromatosis, Congenital Generalized CD34 disease C0432284 Biomarker 0.01 disgenet
Fibromatosis, Congenital Generalized NDRG4 disease C0432284 GeneticVariation 0.01 disgenet
Fibromatosis, Congenital Generalized VIM disease C0432284 Biomarker 0.01 disgenet
Fibromatosis, Congenital Generalized ACVR1 disease C0432284 GeneticVariation 0.01 disgenet
Fibromatosis, Congenital Generalized DES disease C0432284 Biomarker 0.01 disgenet
Fibromatosis, Congenital Generalized PAM disease C0432284 Biomarker 0.01 disgenet
Fibromatosis, Congenital Generalized SHCBP1 disease C0432284 Biomarker 0.01 disgenet
Fibromatosis, Congenital Generalized PECAM1 disease C0432284 Biomarker 0.01 disgenet
Fibromatosis, Congenital Generalized SMS disease C0432284 GeneticVariation 0.01 disgenet
Fibromatosis, Congenital Generalized S100B disease C0432284 Biomarker 0.01 disgenet
Fibromatosis, Congenital Generalized ACAN disease C0432284 AlteredExpression 0.01 disgenet
Fibromatosis, Congenital Generalized LRIT1 disease C0432284 Biomarker 0.01 disgenet
Fibromatosis, Congenital Generalized S100A1 disease C0432284 Biomarker 0.01 disgenet
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