Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Osteochondrodysplasia TRPV4 group C0029422 GeneticVariation 0.47 disgenet
Osteochondrodysplasia TRPV4 group C0029422 AlteredExpression 0.47 disgenet
Osteochondrodysplasia TRPV4 group C0029422 Biomarker 0.47 disgenet
Osteochondrodysplasia COL2A1 group C0029422 GeneticVariation 0.44 disgenet
Osteochondrodysplasia COL2A1 group C0029422 Biomarker 0.44 disgenet
Osteochondrodysplasia FLNA group C0029422 GeneticVariation 0.44 disgenet
Osteochondrodysplasia FLNA group C0029422 Biomarker 0.44 disgenet
Osteochondrodysplasia HSPG2 group C0029422 Biomarker 0.41 disgenet
Osteochondrodysplasia HSPG2 group C0029422 GeneticVariation 0.41 disgenet
Osteochondrodysplasia TRAPPC2 group C0029422 Biomarker 0.36 disgenet
Osteochondrodysplasia TRAPPC2 group C0029422 GeneticVariation 0.36 disgenet
Osteochondrodysplasia TRAPPC2 group C0029422 AlteredExpression 0.36 disgenet
Osteochondrodysplasia THRA group C0029422 Biomarker 0.32 disgenet
Osteochondrodysplasia THRA group C0029422 GeneticVariation 0.32 disgenet
Osteochondrodysplasia COL11A1 group C0029422 Biomarker 0.31 disgenet
Osteochondrodysplasia COL9A1 group C0029422 GeneticVariation 0.31 disgenet
Osteochondrodysplasia COL9A1 group C0029422 Biomarker 0.31 disgenet
Osteochondrodysplasia SLC10A7 group C0029422 Biomarker 0.31 disgenet
Osteochondrodysplasia DLL3 group C0029422 GeneticVariation 0.31 disgenet
Osteochondrodysplasia DLL3 group C0029422 Biomarker 0.31 disgenet
Osteochondrodysplasia SLC10A7 group C0029422 GeneticVariation 0.31 disgenet
Osteochondrodysplasia COL11A1 group C0029422 GeneticVariation 0.31 disgenet
Osteochondrodysplasia FLT1 group C0029422 Biomarker 0.3 disgenet
Osteochondrodysplasia ADAMTSL2 group C0029422 Biomarker 0.3 disgenet
Osteochondrodysplasia CHST3 group C0029422 Biomarker 0.3 orphanet , disgenet
Osteochondrodysplasia SOST group C0029422 Biomarker 0.3 disgenet
Osteochondrodysplasia VEGFA group C0029422 Therapeutic 0.3 disgenet
Osteochondrodysplasia PISD group C0029422 Biomarker 0.3 orphanet , disgenet
Osteochondrodysplasia KDR group C0029422 Biomarker 0.3 disgenet
Osteochondrodysplasia BCL2 group C0029422 Biomarker 0.3 disgenet
Osteochondrodysplasia GLB1 group C0029422 Biomarker 0.3 disgenet
Osteochondrodysplasia FGFR3 group C0029422 Biomarker 0.2 disgenet
Osteochondrodysplasia TGFBR1 group C0029422 Biomarker 0.2 disgenet
Osteochondrodysplasia FGFR3 group C0029422 GeneticVariation 0.2 disgenet
Osteochondrodysplasia ATF2 group C0029422 Biomarker 0.2 disgenet
Osteochondrodysplasia FGFR3 group C0029422 AlteredExpression 0.2 disgenet
Osteochondrodysplasia TGFB2 group C0029422 Biomarker 0.2 disgenet
Osteochondrodysplasia RUNX2 group C0029422 Biomarker 0.13 disgenet
Osteochondrodysplasia RUNX2 group C0029422 GeneticVariation 0.13 disgenet
Osteochondrodysplasia SLC26A2 group C0029422 AlteredExpression 0.12 disgenet
Osteochondrodysplasia CTSK group C0029422 GeneticVariation 0.12 disgenet
Osteochondrodysplasia SLC26A2 group C0029422 GeneticVariation 0.12 disgenet
Osteochondrodysplasia CTSK group C0029422 Biomarker 0.12 disgenet
Osteochondrodysplasia SLC26A2 group C0029422 CausalMutation 0.12 disgenet
Osteochondrodysplasia LIFR group C0029422 GeneticVariation 0.11 disgenet
Osteochondrodysplasia GDF5 group C0029422 GeneticVariation 0.11 disgenet
Osteochondrodysplasia GDF5 group C0029422 Biomarker 0.11 disgenet
Osteochondrodysplasia PTH1R group C0029422 Biomarker 0.11 disgenet
Osteochondrodysplasia DYM group C0029422 GeneticVariation 0.11 disgenet
Osteochondrodysplasia LIFR group C0029422 Biomarker 0.11 disgenet
Osteochondrodysplasia LEMD3 group C0029422 GeneticVariation 0.11 disgenet
Osteochondrodysplasia DMP1 group C0029422 GeneticVariation 0.11 disgenet
Osteochondrodysplasia LEMD3 group C0029422 Biomarker 0.11 disgenet
Osteochondrodysplasia ALG9 group C0029422 GeneticVariation 0.11 disgenet
Osteochondrodysplasia DYM group C0029422 Biomarker 0.11 disgenet
Osteochondrodysplasia DMP1 group C0029422 Biomarker 0.11 disgenet
Osteochondrodysplasia ALG9 group C0029422 Biomarker 0.11 disgenet
Osteochondrodysplasia KIF22 group C0029422 Biomarker 0.11 disgenet
Osteochondrodysplasia PTH1R group C0029422 GeneticVariation 0.11 disgenet
Osteochondrodysplasia SOX10 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia GLI3 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia CEP120 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia ALDH3A2 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia FGF17 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX10 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX19 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX26 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia CTSA group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia TREM2 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia IFT140 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia SPRY4 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia KCNJ8 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia LMX1B group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia GJA1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PTEN group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia COL3A1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia NSMF group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX2 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia SEC24D group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia CHD7 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia TCOF1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia ERF group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia HBB group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia P4HB group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia POLR1D group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia BMPR1B group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia IL17RD group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia IDUA group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia IFT80 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia FAT4 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia HESX1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia FGFR1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PROKR2 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia HS6ST1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia ENPP1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia ACTB group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia IFT172 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX11B group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia TMEM67 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia DYNC2LI1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia SLC39A13 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia FGF8 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia DCC group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia CCDC141 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia NEU1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia GNAS group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX13 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PHYH group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia DYNC2H1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia ABCC9 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia B4GALT7 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia NLRC4 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia WDR11 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia SEMA3A group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia SF3B4 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia NLRP3 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia FEZF1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia AKT1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX7 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia POLR1C group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia TACR3 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX12 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX3 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia TYROBP group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia TRIP11 group C0029422 CausalMutation 0.1 disgenet
Osteochondrodysplasia PEX6 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia KRAS group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX5 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia SEC23A group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia IHH group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia WDR34 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia FLRT3 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX14 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia NOTCH2 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia CDH3 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia RECQL4 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia WDR60 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia WDR19 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia KISS1R group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia ANOS1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX16 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia DCHS1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PROK2 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia DUSP6 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia ANKH group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia TTC21B group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia ACTG1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia PEX1 group C0029422 Biomarker 0.1 disgenet
Osteochondrodysplasia SHOX group C0029422 Biomarker 0.09 disgenet
Osteochondrodysplasia SHOX group C0029422 AlteredExpression 0.09 disgenet
Osteochondrodysplasia SHOX group C0029422 GeneticVariation 0.09 disgenet
Osteochondrodysplasia RMRP group C0029422 Biomarker 0.06 disgenet
Osteochondrodysplasia RMRP group C0029422 GeneticVariation 0.06 disgenet
Osteochondrodysplasia COMP group C0029422 GeneticVariation 0.05 disgenet
Osteochondrodysplasia FLNB group C0029422 GeneticVariation 0.04 disgenet
Osteochondrodysplasia CSGALNACT1 group C0029422 Biomarker 0.04 disgenet
Osteochondrodysplasia CSGALNACT1 group C0029422 GeneticVariation 0.04 disgenet
Osteochondrodysplasia MATN3 group C0029422 GeneticVariation 0.04 disgenet
Osteochondrodysplasia NPR2 group C0029422 GeneticVariation 0.03 disgenet
Osteochondrodysplasia EBP group C0029422 Biomarker 0.03 disgenet
Osteochondrodysplasia COL10A1 group C0029422 AlteredExpression 0.03 disgenet
Osteochondrodysplasia NPR2 group C0029422 Biomarker 0.03 disgenet
Osteochondrodysplasia PGM3 group C0029422 Biomarker 0.03 disgenet
Osteochondrodysplasia COL10A1 group C0029422 Biomarker 0.03 disgenet
Osteochondrodysplasia EBP group C0029422 GeneticVariation 0.03 disgenet
Osteochondrodysplasia PGM3 group C0029422 GeneticVariation 0.03 disgenet
Osteochondrodysplasia ACAN group C0029422 Biomarker 0.03 disgenet
Osteochondrodysplasia ACAN group C0029422 GeneticVariation 0.03 disgenet
Osteochondrodysplasia POP1 group C0029422 GeneticVariation 0.02 disgenet
Osteochondrodysplasia CSF1R group C0029422 GeneticVariation 0.02 orphanet , disgenet
Osteochondrodysplasia EXTL3 group C0029422 GeneticVariation 0.02 orphanet , disgenet
Osteochondrodysplasia COL9A2 group C0029422 GeneticVariation 0.02 disgenet
Osteochondrodysplasia MAB21L2 group C0029422 Biomarker 0.02 disgenet
Osteochondrodysplasia GOLGB1 group C0029422 Biomarker 0.02 disgenet
Osteochondrodysplasia MAB21L2 group C0029422 GeneticVariation 0.02 disgenet
Osteochondrodysplasia NPPC group C0029422 GeneticVariation 0.02 disgenet
Osteochondrodysplasia NPPC group C0029422 Biomarker 0.02 disgenet
Osteochondrodysplasia GOLGB1 group C0029422 AlteredExpression 0.02 disgenet
Osteochondrodysplasia XYLT1 group C0029422 GeneticVariation 0.02 disgenet
Osteochondrodysplasia GH1 group C0029422 Biomarker 0.02 disgenet
Osteochondrodysplasia SOX9 group C0029422 AlteredExpression 0.02 disgenet
Osteochondrodysplasia EFTUD2 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia NEPRO group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia SLC35A3 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia CYP26B1 group C0029422 Biomarker 0.01 orphanet , disgenet
Osteochondrodysplasia GYPA group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia TRAPPC2B group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia KIAA0753 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia ALPL group C0029422 AlteredExpression 0.01 disgenet
Osteochondrodysplasia EIF2AK3 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia SMUG1 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia IGF1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia AFF4 group C0029422 GeneticVariation 0.01 orphanet , disgenet
Osteochondrodysplasia ATF4 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia SLC13A1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia COL1A1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia MIR140 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia PTH group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia COL11A2 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia IARS2 group C0029422 Biomarker 0.01 orphanet , disgenet
Osteochondrodysplasia GALNS group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia ROR2 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia GYPB group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia BMP2 group C0029422 AlteredExpression 0.01 disgenet
Osteochondrodysplasia SH3PXD2B group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia GYPE group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia ACVR1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia HSPA9 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia PRKAR1A group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia DDRGK1 group C0029422 AlteredExpression 0.01 disgenet
Osteochondrodysplasia SGMS2 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia TRPS1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia AMER1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia LTBP3 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia NTRK1 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia NAGLU group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia PDE4D group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia SLC35D1 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia FGD3 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia STAT1 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia NKX3-2 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia LFNG group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia C2CD3 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia MBTPS1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia RSPRY1 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia NANS group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia CCN6 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia B3GAT3 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia NEK1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia FBN1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia FZD2 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia BGLAP group C0029422 AlteredExpression 0.01 disgenet
Osteochondrodysplasia CHST1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia PAPSS2 group C0029422 Biomarker 0.01 disgenet
Osteochondrodysplasia MMDK group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia SMARCAL1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia ACP5 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia FST group C0029422 AlteredExpression 0.01 disgenet
Osteochondrodysplasia TAPT1 group C0029422 GeneticVariation 0.01 orphanet , disgenet
Osteochondrodysplasia MATN1 group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia PTHLH group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia THRA1/BTR group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia SBDS group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia GNPTAB group C0029422 GeneticVariation 0.01 disgenet
Osteochondrodysplasia NEK9 NA C0029422 NA NA orphanet
Osteochondrodysplasia MYSM1 NA C0029422 NA NA orphanet
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