Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Brachydactyly GNAS disease C0221357 Biomarker 0.45 disgenet
Brachydactyly GNAS disease C0221357 GeneticVariation 0.45 disgenet
Brachydactyly GNAS disease C0221357 CausalMutation 0.45 disgenet
Brachydactyly HDAC4 disease C0221357 GeneticVariation 0.44 disgenet
Brachydactyly HDAC4 disease C0221357 Biomarker 0.44 disgenet
Brachydactyly TCTEX1D2 disease C0221357 Biomarker 0.4 disgenet
Brachydactyly SMAD4 disease C0221357 Biomarker 0.4 disgenet
Brachydactyly PTHLH disease C0221357 Biomarker 0.18 disgenet
Brachydactyly PTHLH disease C0221357 GeneticVariation 0.18 disgenet
Brachydactyly PTHLH disease C0221357 AlteredExpression 0.18 disgenet
Brachydactyly ROR2 disease C0221357 GeneticVariation 0.16 disgenet
Brachydactyly ROR2 disease C0221357 Biomarker 0.16 disgenet
Brachydactyly HOXD13 disease C0221357 Biomarker 0.15 orphanet , disgenet
Brachydactyly HOXD13 disease C0221357 GeneticVariation 0.15 orphanet , disgenet
Brachydactyly FBN1 disease C0221357 GeneticVariation 0.14 disgenet
Brachydactyly FBN1 disease C0221357 Biomarker 0.14 disgenet
Brachydactyly TRPS1 disease C0221357 CausalMutation 0.13 disgenet
Brachydactyly COL2A1 disease C0221357 Biomarker 0.13 disgenet
Brachydactyly GDF5 disease C0221357 GeneticVariation 0.13 orphanet , disgenet
Brachydactyly BMPR1B disease C0221357 Biomarker 0.13 orphanet , disgenet
Brachydactyly GDF5 disease C0221357 Biomarker 0.13 orphanet , disgenet
Brachydactyly TRPS1 disease C0221357 Biomarker 0.13 disgenet
Brachydactyly COL2A1 disease C0221357 GeneticVariation 0.13 disgenet
Brachydactyly TRPS1 disease C0221357 GeneticVariation 0.13 disgenet
Brachydactyly BMPR1B disease C0221357 GeneticVariation 0.13 orphanet , disgenet
Brachydactyly IHH disease C0221357 Biomarker 0.13 disgenet
Brachydactyly PRMT7 disease C0221357 CausalMutation 0.12 orphanet , disgenet
Brachydactyly CHSY1 disease C0221357 Biomarker 0.12 disgenet
Brachydactyly PRMT7 disease C0221357 GeneticVariation 0.12 orphanet , disgenet
Brachydactyly PRMT7 disease C0221357 Biomarker 0.12 orphanet , disgenet
Brachydactyly PDE3A disease C0221357 GeneticVariation 0.12 orphanet , disgenet
Brachydactyly PDE3A disease C0221357 Biomarker 0.12 orphanet , disgenet
Brachydactyly PRKAR1A disease C0221357 Biomarker 0.11 disgenet
Brachydactyly B3GLCT disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly FGFR3 disease C0221357 Biomarker 0.11 disgenet
Brachydactyly NOG disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly B3GLCT disease C0221357 Biomarker 0.11 disgenet
Brachydactyly RUNX2 disease C0221357 Biomarker 0.11 disgenet
Brachydactyly ACAN disease C0221357 Biomarker 0.11 disgenet
Brachydactyly FGFR3 disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly RUNX2 disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly FGFR3 disease C0221357 CausalMutation 0.11 disgenet
Brachydactyly PRKAR1A disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly PDE4D disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly TWIST1 disease C0221357 Biomarker 0.11 disgenet
Brachydactyly NOG disease C0221357 Biomarker 0.11 disgenet
Brachydactyly HOXA13 disease C0221357 Biomarker 0.11 disgenet
Brachydactyly ACAN disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly PDE4D disease C0221357 Biomarker 0.11 disgenet
Brachydactyly HOXA13 disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly LMNA disease C0221357 Biomarker 0.11 disgenet
Brachydactyly TWIST1 disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly PTCH1 disease C0221357 CausalMutation 0.11 disgenet
Brachydactyly PTH1R disease C0221357 Biomarker 0.11 disgenet
Brachydactyly PTCH1 disease C0221357 Biomarker 0.11 disgenet
Brachydactyly PTH1R disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly LMNA disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly PTCH1 disease C0221357 GeneticVariation 0.11 disgenet
Brachydactyly SMARCA2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PDE6D disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KLLN disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RPL10 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GATA5 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NPR2 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly SRCAP disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FLII disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CANT1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IFT43 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MIR17HG disease C0221357 Biomarker 0.1 disgenet
Brachydactyly POC1A disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CHN1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ANTXR2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly REV3L disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PTEN disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PAH disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CITED2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KAT6B disease C0221357 Biomarker 0.1 disgenet
Brachydactyly BRAF disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ITGB6 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RAB23 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RIT1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly A2ML1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DOCK6 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CEP120 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ARL6 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly BMP4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PTCH2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CCDC22 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RRAS disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GJA1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TMEM256 disease C0221357 GeneticVariation 0.1 disgenet
Brachydactyly TBX15 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NPR2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GLI3 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly IFT81 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KIF7 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly WDR35 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FGF9 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ZDHHC24 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly NKX2-5 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CTSK disease C0221357 Biomarker 0.1 disgenet
Brachydactyly INSR disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ALX3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PAPSS2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ANKRD11 disease C0221357 GeneticVariation 0.1 disgenet
Brachydactyly DLL4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PCYT1A disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SPART disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SNX14 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly COL25A1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly BGN disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DHCR7 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DYNC2LI1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IFT80 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SCAPER disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly EHMT1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TMEM216 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IMPAD1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CSNK2A1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TTC21B disease C0221357 Biomarker 0.1 disgenet
Brachydactyly INPPL1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PPM1D disease C0221357 Biomarker 0.1 disgenet
Brachydactyly LONP1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CHST11 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GATA6 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly BBS4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KIAA0753 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly AHSG disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KIF15 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SDHD disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NIPBL disease C0221357 GeneticVariation 0.1 disgenet
Brachydactyly TCF12 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SOS2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly POMP disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PIGN disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ATP7A disease C0221357 Biomarker 0.1 disgenet
Brachydactyly EHMT1 disease C0221357 GeneticVariation 0.1 disgenet
Brachydactyly SKI disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FAM149B1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly OFD1 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly RASA2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IQSEC2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NLRP3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TNNT3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CSPP1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FGFR2 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly CILK1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PCNT disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MAP2K1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TGFBR2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TMEM256-PLSCR3 disease C0221357 GeneticVariation 0.1 disgenet
Brachydactyly MRAS disease C0221357 Biomarker 0.1 disgenet
Brachydactyly BBIP1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly COL11A1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CAMK2G disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DVL1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly COL10A1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GJA5 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KRAS disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GPC4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GDF1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IFT57 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly COL11A2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MAP3K7 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly EFNB1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FAM111A disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ERF disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NRAS disease C0221357 Biomarker 0.1 disgenet
Brachydactyly WNT4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DYM disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SEC23B disease C0221357 Biomarker 0.1 disgenet
Brachydactyly JAG1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CPLANE1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IARS2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly EXOSC2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PPP1CB disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MEGF8 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly INPP5K disease C0221357 Biomarker 0.1 disgenet
Brachydactyly BBS5 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly LBR disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TRIP11 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly ADNP disease C0221357 Biomarker 0.1 disgenet
Brachydactyly WASHC5 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RAI1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PNPLA6 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ATRX disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TULP1 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly PIK3CA disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KDSR disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IFT140 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SIL1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DVL3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NOTCH1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PAX3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KAT6A disease C0221357 Biomarker 0.1 disgenet
Brachydactyly BBS1 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly SPECC1L disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ARID1A disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PITX1 disease C0221357 Biomarker 0.1 orphanet , disgenet
Brachydactyly TRIP11 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ARID2 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly SIN3A disease C0221357 Biomarker 0.1 disgenet
Brachydactyly AFF4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CHD7 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NXN disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MBTPS1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TBX1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PPP2R1A disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly FZD2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NEK1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SLURP1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MAFB disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PPP3CA disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IFT172 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly AKT1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GABRD disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DCPS disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GPX4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SLC35D1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly EOGT disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PGM3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CWC27 disease C0221357 Biomarker 0.1 orphanet , disgenet
Brachydactyly PRDM16 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RMRP disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IFT52 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly POGZ disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RLIM disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TRIO disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DEAF1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly COMP disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MAGEL2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SOS1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RPS6KA3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GJB2 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly WNT5A disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DONSON disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MED12 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly EVC disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ESCO2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SLC26A2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FLNA disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TCTN3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RIN2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SLC2A1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TBX22 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GHR disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TRPV4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FLNB disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CHST3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly LTBP2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SDHB disease C0221357 Biomarker 0.1 disgenet
Brachydactyly EVC2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GLI3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PIK3R1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly LTBP3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly WDR19 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly C12orf57 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly BBS1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly STAMBP disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TBC1D24 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PLXND1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly UPF3B disease C0221357 Biomarker 0.1 disgenet
Brachydactyly EXTL3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly WDR60 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GJB3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SUFU disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RAF1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KCNAB2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SMC1A disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NOTCH2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MYMK disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GJB4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly OFD1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ZFPM2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MEFV disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly ZIC1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CCDC28B disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SDHC disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SHOX disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ARID2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MKKS disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ATRX disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly LIG4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PTPN11 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly PDGFRB disease C0221357 Biomarker 0.1 disgenet
Brachydactyly CRIPT disease C0221357 Biomarker 0.1 disgenet
Brachydactyly YY1AP1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ECEL1 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly KIAA0586 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FGFR2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RERE disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ADAMTS10 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KDM5C disease C0221357 Biomarker 0.1 disgenet
Brachydactyly IFT122 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly TMEM67 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MRPS16 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly LZTR1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly EIF2AK3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SIK3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NLRC4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly WDR19 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RERE disease C0221357 GeneticVariation 0.1 disgenet
Brachydactyly DYNC2H1 disease C0221357 GeneticVariation 0.1 disgenet
Brachydactyly SMC3 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ZDHHC9 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly KCNK4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RB1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly HDAC8 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly SMARCD2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PORCN disease C0221357 Biomarker 0.1 disgenet
Brachydactyly LZTFL1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ALX1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SH3PXD2B disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DYNC2H1 disease C0221357 CausalMutation 0.1 disgenet
Brachydactyly KCNJ2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FGFR1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PTPN11 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PIGS disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NSUN2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DYNC2H1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FTO disease C0221357 Biomarker 0.1 disgenet
Brachydactyly WDR34 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NBAS disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PTDSS1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SLC35C1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly RNU4ATAC disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MACROH2A1 disease C0221357 Biomarker 0.1 orphanet , disgenet
Brachydactyly RBPJ disease C0221357 Biomarker 0.1 disgenet
Brachydactyly BHLHA9 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SEMA3E disease C0221357 Biomarker 0.1 disgenet
Brachydactyly GATA4 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly FGD1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ATP6V1B2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly EXT1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly DPF2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly HUWE1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly POP1 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly SHOC2 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly MAF disease C0221357 Biomarker 0.1 disgenet
Brachydactyly NKX2-6 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly ARHGAP31 disease C0221357 Biomarker 0.1 disgenet
Brachydactyly PTH disease C0221357 Biomarker 0.06 disgenet
Brachydactyly PTH disease C0221357 GeneticVariation 0.06 disgenet
Brachydactyly TBCEL disease C0221357 Biomarker 0.02 disgenet
Brachydactyly GHRH disease C0221357 GeneticVariation 0.02 disgenet
Brachydactyly GHRH disease C0221357 Biomarker 0.02 disgenet
Brachydactyly TBCEL disease C0221357 GeneticVariation 0.02 disgenet
Brachydactyly PARK7 disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly BDA1B disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly QRSL1 disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly COL1A2 disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly PHPT1 disease C0221357 Biomarker 0.01 disgenet
Brachydactyly PADI4 disease C0221357 Biomarker 0.01 disgenet
Brachydactyly FRAS1 disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly KCNB2 disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly ASAH1 disease C0221357 Biomarker 0.01 disgenet
Brachydactyly ADAMTS17 disease C0221357 GeneticVariation 0.01 orphanet , disgenet
Brachydactyly SOX3 disease C0221357 Biomarker 0.01 disgenet
Brachydactyly GPC1 disease C0221357 Biomarker 0.01 disgenet
Brachydactyly FZD1 disease C0221357 Biomarker 0.01 disgenet
Brachydactyly ADAMTS12 disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly RTTN disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly CRYGD disease C0221357 Biomarker 0.01 disgenet
Brachydactyly SYK disease C0221357 Biomarker 0.01 disgenet
Brachydactyly PRPF31 disease C0221357 Biomarker 0.01 disgenet
Brachydactyly ACSL3 disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly TBL1XR1 disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly BRD2 disease C0221357 Biomarker 0.01 disgenet
Brachydactyly SACS disease C0221357 GeneticVariation 0.01 disgenet
Brachydactyly HLA-DRB1 disease C0221357 Biomarker 0.01 disgenet
Brachydactyly FOXC1 disease C0221357 AlteredExpression 0.01 disgenet
Brachydactyly HNRNPR disease C0221357 Biomarker 0.01 disgenet
Brachydactyly CERS3 NA C0221357 NA NA orphanet
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