Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Thumb hypoplastic RPL11 disease C0431890 Biomarker 0.4 disgenet
Thumb hypoplastic RPS19 disease C0431890 Biomarker 0.4 disgenet
Thumb hypoplastic SALL4 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic DHCR7 disease C0431890 CausalMutation 0.1 disgenet
Thumb hypoplastic LTBP2 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic FANCA disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic LRP4 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic FANCE disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic RECQL4 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic MGP disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic MIR17HG disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic COL2A1 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic UBE2T disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic RPL5 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic DHCR7 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic PTCH1 disease C0431890 CausalMutation 0.1 disgenet
Thumb hypoplastic FBN1 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic GDF5 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic CHD7 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic FLNA disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic HOXA13 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic SIN3A disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic BMPR1B disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic ESCO2 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic LETM1 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic NSD2 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic ADAMTS10 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic LMNB2 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic WIPI2 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic BHLHA9 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic RAD51C disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic BCOR disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic FANCC disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic TFAP2A disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic APC disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic NELFA disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic SEMA3E disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic IHH disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic EIF4A3 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic PALB2 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic ACAN disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic CHST11 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic FANCD2 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic KDM1A disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic EHMT1 disease C0431890 GeneticVariation 0.1 disgenet
Thumb hypoplastic DHODH disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic ATP6V1B2 disease C0431890 Biomarker 0.1 disgenet
Thumb hypoplastic RGS6 disease C0431890 GeneticVariation 0.01 disgenet
Thumb hypoplastic CUP2Q35 disease C0431890 AlteredExpression 0.01 disgenet
Thumb hypoplastic RASA1 disease C0431890 GeneticVariation 0.01 disgenet
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