Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Arachnodactylies FBN1 disease C0003706 GeneticVariation 0.45 disgenet
Arachnodactylies FBN1 disease C0003706 CausalMutation 0.45 disgenet
Arachnodactylies FBN1 disease C0003706 Biomarker 0.45 disgenet
Arachnodactylies NPR3 disease C0003706 Biomarker 0.3 disgenet
Arachnodactylies FZD4 disease C0003706 Biomarker 0.3 disgenet
Arachnodactylies ABL1 disease C0003706 Biomarker 0.3 disgenet
Arachnodactylies EFEMP2 disease C0003706 Biomarker 0.12 disgenet
Arachnodactylies EFEMP2 disease C0003706 GeneticVariation 0.12 disgenet
Arachnodactylies FBN2 disease C0003706 GeneticVariation 0.12 disgenet
Arachnodactylies FBN2 disease C0003706 Biomarker 0.12 disgenet
Arachnodactylies CHRNG disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies CRKL disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies NSD2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies STRN4 disease C0003706 CausalMutation 0.1 disgenet
Arachnodactylies MYLK disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies ACTG2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies ASXL3 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies LETM1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PSMC3IP disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies CHN1 disease C0003706 GeneticVariation 0.1 disgenet
Arachnodactylies FLNA disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SEC24C disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies HERC1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies KANSL1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PRDM5 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies STUB1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies TGFB3 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies WFS1 disease C0003706 CausalMutation 0.1 disgenet
Arachnodactylies UBE3B disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies COL1A1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies VPS13B disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies NELFA disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PTCH1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies MED12 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies DSE disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies CNTN1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies UPF3B disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies CHST14 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SCARF2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies JMJD1C disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies FBLN5 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies NR5A1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies FGFR2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies CTSC disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies TRIM8 disease C0003706 GeneticVariation 0.1 disgenet
Arachnodactylies FSHR disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies OTUD6B disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies OSGEP disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PQBP1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies TGFBR1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SON disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies GP1BB disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SMS disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies BCR disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies CYP26B1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies ARVCF disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies MAPK1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies ACTA2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies ELN disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SKI disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SMAD3 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies LAGE3 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies CBS disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SIN3A disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies TMEM94 disease C0003706 CausalMutation 0.1 disgenet
Arachnodactylies COL2A1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies POR disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PSMB8 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies LOX disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies MAT2A disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PIEZO2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SPIDR disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies TBX1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies TGFBR2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies NUP107 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies BMP15 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies RREB1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SMARCE1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies MRPS22 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies UFD1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SUFU disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SATB2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies FOXE3 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PLOD1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PTCH2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies TGFBR1 disease C0003706 CausalMutation 0.1 disgenet
Arachnodactylies PRKG1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PYCR2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies MYH11 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies FKRP disease C0003706 CausalMutation 0.1 disgenet
Arachnodactylies COL5A1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies PEPD disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies COMT disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies HIRA disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies ZNF469 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SH2B1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies TGFB2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies FGFR3 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies ZDHHC9 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies MFAP5 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies MTM1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies COL5A2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies B4GALT7 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies NPR2 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies AMER1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies COL11A1 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies SLC2A10 disease C0003706 Biomarker 0.1 disgenet
Arachnodactylies B3GALT6 NA C0003706 NA NA orphanet
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