Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Thumb absent or hypoplastic FIG4 phenotype C3179508 Biomarker 0.3 disgenet
Thumb absent or hypoplastic RB1 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic RECQL4 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic COL25A1 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic TBX5 phenotype C3179508 CausalMutation 0.1 disgenet
Thumb absent or hypoplastic REV3L phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic BHLHA9 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic PLXND1 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic SF3B4 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic FGFR2 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic ESCO2 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic TP63 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic SHH phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic MAFB phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic LIG4 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic FGFR1 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic LMBR1 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic NSUN2 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic BMPR1B phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic CHN1 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic GDF5 phenotype C3179508 Biomarker 0.1 disgenet
Thumb absent or hypoplastic FRAS1 phenotype C3179508 Biomarker 0.1 disgenet
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