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  • HP:0001367: Abnormal joint morphology
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    HP:0001367: Abnormal joint morphology

    Developed by Shray Alag, The Harker School
    Sections: Correlations, Clinical Trials, and HPO

    Correlations computed by analyzing all clinical trials.

    Navigate: Clinical Trials and HPO


    Correlated Drug Terms (4)


    Name (Synonyms) Correlation
    drug941 Clofazimine Wiki 0.71
    drug4740 some risk factors that might be correlated with TMD Wiki 0.71
    drug1963 Interferon beta-1b Wiki 0.50
    Name (Synonyms) Correlation
    drug2658 Observational Wiki 0.35

    Correlated MeSH Terms (5)


    Name (Synonyms) Correlation
    D007592 Joint Diseases NIH 1.00
    D002012 Bruxism NIH 0.71
    D013705 Temporomandibular Joint Disorders NIH 0.50
    Name (Synonyms) Correlation
    D013706 Temporomandibular Joint Dysfunction Syndrome NIH 0.50
    D006467 Hemophilia A NIH 0.41

    Correlated HPO Terms (2)


    Name (Synonyms) Correlation
    HP:0003763 Bruxism HPO 0.71
    HP:0003125 Reduced factor VIII activity HPO 0.41

    Clinical Trials

    Navigate: Correlations   HPO

    There are 2 clinical trials


    1 Effects of COVID-19 Quarantine on the Musculoskeletal Status of Adult Hemophilia Patients. An Observational Study

    Background. The recurrence of hemarthrosis in patients with congenital coagulopathies favors the development of a progressive, degenerative and intra-articular lesion (hemophilic arthropathy) that mainly affects the knees, ankles and elbows. Pain is one of the main clinical manifestations of hemophilic arthropathy. As a consequence of the COVID-19 pandemic, the Government of Spain, among others, established a total confinement for two months, in order to avoid contagion of the population Objective. To assess the effect of COVID-19 confinement on bleeding frequency, pain perception, and range of motion in patients with hemophilic arthropathy. Study design. Prospective observational study. Method. 27 patients with hemophilia A and B will be included in this study. Patients will be recruited from the Spanish Hemophilia Federation (Fishemo) specialized center for hemophilia patients. The dependent variables will be: the frequency of bleeding (through a self-report), the perception of pain (measured with the visual analog scale and a pressure algometer), the joint state (with the Hemophilia Joint Health Score), and the range of joint movement (measured with a goniometer). Two evaluations will be carried out: pre-treatment (carried out in the month of February, as a periodic evaluation) and post-treatment (at the end of the period of confinement in Spain). Expected results. The aim is to observe the sequelae caused by confinement and a sedentary lifestyle in patients with hemophilic arthropathy, through changes in joint status, pain and range of motion.

    NCT04491318
    Conditions
    1. Hemophilia Arthropathy
    Interventions
    1. Other: Observational
    MeSH:Joint Diseases Hemophilia A
    HPO:Abnormal joint morphology Arthropathy Reduced factor VIII activity

    Primary Outcomes

    Description: The frequency of joint bleeding was assessed using a self-assessment log provided to patients at the beginning of confinement electronically. This registry included a monthly calendar where the patients included the date, symptoms and location of the hemarthrosis.

    Measure: Change from baseline frequency of hemarthrosis after confinement period

    Time: Screening visit, within the first seven days after confinement

    Secondary Outcomes

    Description: Joint status was assessed with the Hemophilia Joint Health Score (HJHS) version 2.1. This tool, specific for hemophilia patients, evaluates joint deterioration in the ankle, knee and elbow joints. This scale measures 8 items: swelling, duration of swelling, atrophy and muscle strength, crepitus, mobility and joint pain. The scoring range for this additive scale is 0-20 points at each joint.

    Measure: Change from baseline joint health after confinement period

    Time: Screening visit, within the first seven days after confinement

    Description: Joint pain perception was measured with the visual analog scale. This scale has shown moderate reliability. The scoring range is from 0 to 10 points (from no pain to maximum perceived pain).

    Measure: Change from baseline joint pain after confinement period

    Time: Screening visit, within the first seven days after confinement

    Description: Range of motion was measured with a goniometer to assess flexion and extension of the elbow, knee, and ankle joints. This measuring instrument has shown good intra and inter-observer reliability in the joints evaluated. The measurement protocols described by Cleffken, Green and Gerhardt were used to measure mobility in the elbow, knee and ankle joints, respectively.

    Measure: Change from baseline range of motion after confinement period

    Time: Screening visit, within the first seven days after confinement

    Description: The pressure algometer measures the pressure, bilaterally, at which the patient perceives pressure pain on the evaluation point, as the pressure increases at a speed of approximately 50kPa / s. The unit of measurement is in Newton / cm2. The perception of joint pain in the elbow was measured on the lateral epicondyle, in the knee at a distance of 3 cm from the midpoint of the internal edge of the patella, and in the ankle it was measured in the ventral region of the lateral malleolus.

    Measure: Change from baseline joint pain after confinement period

    Time: Screening visit, within the first seven days after confinement
    2 Prevalence of Temporomandibular Joint Disorders Among Egyptian University Undergraduate Students

    This study will take place in Egypt. Undergraduate students from different faculties of the Egyptian Universities will participate. The study will begin in December 2020.

    NCT04618445
    Conditions
    1. TMD
    2. Bruxism
    Interventions
    1. Behavioral: some risk factors that might be correlated with TMD
    MeSH:Joint Diseases Temporomandibular Joint Disorders Temporomandibular Joint Dysfunction Syndrome Bruxism
    HPO:Abnormal joint morphology Arthropathy Bruxism

    Primary Outcomes

    Description: Fonseca Questionnaire

    Measure: prevalence of TMDs in Egyptian university students

    Time: 3 months

    HPO Nodes


    HP:0001367: Abnormal joint morphology
    Genes 1641
    SMARCA4 SPG11 AEBP1 LPIN2 NLRP3 OBSL1 VEGFC PEX1 CAPN1 FXYD2 NTRK1 XYLT1 COL2A1 GAN GP1BB COL2A1 SH3PXD2B EXTL3 SEC61A1 SEC24C DKK1 FGFR3 GFPT1 RYR1 MMP14 CHN1 APOE AP4E1 POLR1A COL6A1 THRA NSD2 HGD KRAS PTH1R ERCC1 IL2RA RNU4ATAC FOXH1 IKBKG GTF2E2 NF1 EIF2AK3 RAD51 MMP13 ERCC4 ASXL1 LBR DVL3 IHH PSTPIP1 SEC31A HOXA11 FGFR3 NSD1 EIF4A3 FANCL EXOC6B GUSB PTPN2 COL9A2 SHROOM4 EVC C12ORF57 TPM3 SIL1 UCHL1 GNPTG FLNB HOXD10 DAG1 BRAF FBLN5 ACP5 ATP6V0A2 MAP2K1 TRIM2 HJV TIMM8A BRAF MECOM FLNA KIF1A PUF60 CHEK2 RASGRP1 FLNB FGFR2 PTDSS1 COL11A1 SCN2A CHST11 SOS1 ATP6V1A RAG2 PHGDH FGFR3 WNK1 GLI3 SBDS DYM NPAP1 RERE FANCM COL6A1 TNFAIP3 SNORD116-1 MEFV PTEN SLC2A10 OSGEP VPS13B GLI2 TBX15 TPM2 TRAPPC12 IL2RA HPGD COL1A1 NT5E HLA-DRB1 SIX6 GFM2 HOXA13 VANGL1 LMNA MATN3 GNPTAB SALL4 FANCG MKRN3 ASPN HPGD VDR LACC1 DNAJB11 MYH3 MYBPC1 F8 FGFR3 CDON ZFYVE27 RAF1 FGFR1 EVC2 NEDD4L SIX3 MUC1 TRPV4 TOR1A PDGFRB ADAMTSL2 RAB23 FAT4 ORC4 ZIC2 HFE PYCR1 ALDH18A1 MYD88 FGF8 SELENON MYOT SHH PSMB4 NODAL COL11A1 SKI HEPHL1 TRIP11 ERAP1 SMC1A GAS1 DLL3 CHRND TWIST1 LRP6 SHOX PAX3 TIMM22 COL2A1 DYRK1A COL1A1 BCOR RAB23 SCARF2 PTPN22 UBE3B CHRNG NSD1 KRAS IL12A COL11A2 GNAS NOD2 IRF5 DNAJC21 CCN2 WNT7A C19ORF12 EFNB1 GMNN FBN2 RMRP ALX1 ROR2 CYP7B1 TRPV4 RIPK4 FANCB EPB42 CCN6 KIF22 COL1A2 NUP107 SMAD3 IHH F2 NALCN CENPT REEP1 COL13A1 GJA1 SOD1 GNA11 CUL7 DDRGK1 TRPV4 IRF6 ANKRD11 FGB PLEC PLOD3 COL6A1 HUWE1 COL11A1 CD96 TGFB3 PSAT1 SLC39A13 LMBR1 ACAN FBN1 MIR140 HPRT1 HAMP LMNA COL2A1 MMP2 CDH3 PQBP1 IDUA HINT1 XPA ANKH PTH1R OFD1 IGHMBP2 SETD5 LRBA FERMT1 COMP MAN2B1 PRG4 ALDH18A1 FANCD2 IRF5 HOXA13 RMRP RFC2 MEOX1 TDGF1 ATR SOX9 GNPTAB PHEX SPTB IL6ST LRRC8A SLC35A2 HK1 NLRP3 MYL2 SOX2 TBR1 NT5C2 MED12 HLA-DRB1 ANKRD55 DKC1 ITGB4 MMP13 SHH SMG9 COL11A2 ALDH18A1 FOXH1 BMP2 MEFV DYSF PTH1R COL11A1 CBL GPHN TNNI2 SLC26A2 ARF1 DPAGT1 RRAS FGA TUBB3 ITGA6 FANCC DHCR7 ADAMTS2 AARS1 CDC73 CLCNKB ARSB COLQ F7 RAC3 BPTF OTULIN UBA1 TPM2 GAS1 SOS1 GALC ERCC5 CRTAP ERLIN2 HGD DONSON LIFR AEBP1 MEFV NFIX PIGL ATP6V1E1 COL6A3 IFT52 PTPN11 FLNA CD247 FA2H TGIF1 PHEX SMC3 EYA1 COL6A1 APC2 NTN1 CTNS TCTN3 SMARCC2 F10 TPRKB GLRB TDGF1 COL6A3 SCN9A DVL1 TGIF1 ZNF687 WDR4 COL9A2 TGDS COMP ANO10 SF3B4 UBE2A LFNG GDF5 FGFR2 MEOX1 ZIC1 SRY WNT5A NPR2 DHCR24 NALCN SMC1A GHR HPRT1 TFR2 SLC39A14 F8 COL2A1 TPM3 TFAP2B COL3A1 IFT57 RMRP DLL1 NXN SALL4 TBX22 IFITM5 KDM6A UNC80 CASP10 UFSP2 PTPN22 RAB3GAP2 HES7 ZDHHC9 SUFU F8 NOTCH2 COL5A1 NODAL ANKRD11 ANTXR2 F13B BMPR1B ORC6 ENPP1 SMARCB1 CSGALNACT1 SF3B4 PIEZO2 BCOR MCOLN1 MLXIPL HLA-DRB1 CHMP1A SLC37A4 TF CYP27B1 CPLX1 ATP6V0A2 SLC16A2 CHST3 DPF2 TFAP2B TMEM43 F9 SUFU HPRT1 DISP1 GAS1 GPC3 PRPS1 RB1 SLC29A3 CLCF1 ANKLE2 LARGE1 UFD1 CANT1 ALPL ANKH RAG1 FHL1 LMNA LMNA ERCC2 DLL1 TP53 EIF2AK3 GMPPB AKT1 SCN9A BMPR1B RNU4ATAC MMP2 ARID1A WAS HYAL1 G6PC ORC6 SPRTN MAFB ACTG2 DHODH CDON DAG1 ALX3 CD79A GDF5 CCBE1 TWIST2 LIFR COL5A2 FGF9 PWAR1 SMARCA2 SOX9 SLC40A1 TMTC3 TRPV4 SMARCAD1 BTK APC PIK3CD BRAF PIEZO2 PSMB8 VAMP1 FANCE FCGR2A RAD21 GPC4 COL11A1 AIP SERPINH1 GLI2 FANCI BAG3 DISP1 SMARCAL1 FGD1 SLC18A3 FGF8 BMP1 AP4M1 CD247 PSAP CENPJ SMARCE1 CHST14 WRN BCR COL2A1 ATAD1 DNASE1 NIPBL PCNT MYO9A MRAS AP4B1 SCN1A CLCN7 DPM1 IDUA IFIH1 GDF5 MYH7 ANKRD55 NOD2 GNE PLEKHG5 ZEB2 IFIH1 LETM1 USP9X GBA2 COL7A1 MAFB PSMB9 PLAU LMOD3 COL2A1 ZNF469 OCRL UBAC2 LMNA LBR NGLY1 FKBP10 SLC35A3 LMBR1 F13A1 COL2A1 ACAN SLC26A2 MORC2 TP53 HDAC8 GTF2H5 ERCC6 POMT1 PUF60 PTCH2 FLT4 ASAH1 ARID1B FLVCR1 MIF CSPP1 CCBE1 WNT7A SLC6A9 IRAK1 STAG2 EVC DDR2 ECE1 MMP13 POLR3A FGFR3 FGFR2 FGFR1 B3GAT3 ITGB4 PIEZO2 BTK SETD2 DCLRE1C SPART KNSTRN CBS CDON ZMPSTE24 ALG14 PTCH2 TCF3 ZMPSTE24 FHL1 KMT2D SLC40A1 MEGF10 RIPK4 FZD2 MYH7 MKRN3-AS1 B4GALT7 CCDC47 SLC25A1 ERCC4 GPC4 IL36RN BPNT2 SELENON COL9A1 PTPN22 RYR1 TPM2 HPGD SMC1A TGFBR1 PADI4 TRPV4 KLRC4 DNAJC21 B3GALT6 SAMHD1 GDF6 FLNB USP9X SMC1A COL9A3 NLRP3 ESCO2 SHH TBC1D7 AP2S1 ADAMTS2 TRPV4 LMBR1 WNT7A CCR6 EFNB1 HLA-B RAB33B STAT4 FGFR3 SETD2 CYP19A1 CHST3 AMER1 PITX1 FBN1 ATP6V0A2 ARVCF ERCC5 GCH1 SLC26A2 BMPR1B RECQL4 XRCC2 KLHL7 RECQL4 GGCX SDHD ADAR WHCR MMP13 UFSP2 TNNI2 MAP3K7 NOG CEP120 ESCO2 KY HOXD13 EXT1 COL2A1 NF1 FLNB PHGDH HRAS POP1 FLNA CD79B KDM6A FIG4 ALDH18A1 MTHFD1 FDFT1 MAP2K2 MIR140 MKKS PIK3R2 GLRA1 MCFD2 CAV1 PFKM IL10 FZD2 COL9A1 SLC4A1 ORC4 OFD1 EZH2 MCTP2 PIK3C2A FGF8 MAGEL2 SLC34A3 RAB18 EP300 GLRA1 SH3KBP1 SDHAF1 HACE1 TDGF1 LGI4 SOX11 IARS2 MAP3K7 EBP HCN1 MYH3 STAT3 F11 PITX1 BHLHA9 CHRM3 RIT1 BGN WIPF1 F2 NANS HNF4A FAS RNASEH2A TGIF1 NOG FN1 OSGEP SMAD4 ALG2 GTF2IRD1 LAGE3 DONSON SLC5A7 COL10A1 GDF5 MYH3 TP53RK ADAT3 CDC45 SMC3 STAG1 FKRP SHOX CUL4B STAT4 ADA2 SMAD3 FGFR2 COL6A2 ESCO2 FBN2 KDM6A SFRP4 GDF5 MYH8 MAD2L2 COL6A2 RFWD3 FGFR1 SLC6A5 COL12A1 TLR4 UPF3B MYBPC1 PTCH1 PORCN PLOD2 ERCC6 MED12 CTBP1 ADGRV1 NEB TBCD PWRN1 TNFRSF1A TRPS1 BRCA2 MYH8 C4A TREX1 UROS KANSL1 MMP1 PRKAR1A F13A1 ELN A2ML1 SHOX SETBP1 FLNA MVK GDF5 LMX1B ELP1 SALL4 RNF113A MAF SCN1A ALG9 TBL2 EMG1 IL10 MED12 AIFM1 LONP1 COL9A2 SRCAP BHLHA9 POMT2 STX1B ZC4H2 L1CAM PEX5 GLB1 GTF2H5 PLOD1 DYNC2I1 PRDM16 HS6ST1 COL6A2 CYP2R1 COL9A1 TRPV4 CIITA DISP1 HOXD13 CDC45 TBX4 OPA3 EXT1 COL7A1 GNPTAB LIMK1 HYAL1 NRAS BICD2 HLA-DRB1 FGFR2 FGFR3 SOS2 HBB PSAT1 PTPN22 FANCI LEMD3 TARS1 NOTCH2 TGFB1 DYNC2LI1 BMP4 NLRP3 EXT1 HJV MAP3K20 ZBTB20 SYNE2 RINT1 LZTR1 COL1A2 PIEZO2 SYNE1 EMD GJB6 SCN1B COL1A2 OCRL SPAST ORC1 POMT2 TPM2 COL11A2 KRAS HPRT1 RMRP GDF5 LAMA3 TUBB3 MMP14 SELENOI EZH2 KIF7 CFL2 FOXH1 CD244 PTPN11 CDT1 MUSK HERC2 ATP6V0A2 GAS1 BCOR KCNJ1 F10 COL6A3 ERCC3 HLA-B COL5A2 GDF5 FKBP10 TWIST1 COL12A1 NODAL GATA1 EFEMP2 KMT2A DISP1 ADGRG1 PTPN2 CYP26B1 TMEM70 LARGE1 COL12A1 PEX1 NALCN COL1A1 CYP2R1 NIPA1 ARID2 TBX15 ACTA1 BHLHA9 FGFR3 FASLG TNNI2 TDGF1 PPP2R3C PYCR1 SELENOI FGF8 BRAF TNNT3 POU3F4 PCDH19 RPS15A PAX3 FLNA ERCC2 ACAN NEB WDR73 MATN3 NIPBL SNORD115-1 PHF6 COL7A1 RAF1 RPL10 PEX2 STAG2 STXBP1 FLI1 STAT4 NOG SIL1 DSTYK HLA-B RNASEH2C STXBP1 RBM8A GRIA3 LONP1 GPC6 PALB2 FGFR2 SHOX FA2H TGFBR1 TPM2 ZIC2 TBX22 PRMT7 CTCF CTLA4 EFL1 AP3B1 GPC3 FLNB AGA RETREG1 NDN FOXP3 HNF1B COG5 PCYT1A FGFR2 FANCB DMP1 ENPP1 FBXL3 RPL26 COL9A3 PTCH1 CRLF1 EMG1 BGN COL1A2 STUB1 GLI2 EPCAM TRPV4 LRP4 COL9A3 COLEC10 ATP7B MESP2 CHST14 IL23R CHRM3 DHODH CTC1 DHCR7 LMBR1 XPC CHD4 SNRPN BMPR1B INPPL1 CHAT MASP1 KRAS PTDSS1 HFE ANO5 ERLIN1 CYP27A1 SLC18A3 MYH3 COL12A1 B3GALT6 ROR2 KAT6B ACTA1 PITX1 GLI3 NLRP12 RTTN PIEZO2 ABCG8 IL2RB MED25 TRAPPC2 MVK COG1 IRF6 RREB1 COL2A1 SLC10A7 CFI RAD51C FBLN1 MLX TNNT3 PKDCC TBX1 HOXD13 CNTN1 GEMIN4 ERMARD NIN SUZ12 SPG11 KIAA0586 PTEN PTRH2 TBX5 GCDH NUP88 CHSY1 GALNS AFF4 MATN3 KAT6B RUNX2 HNF1B IFT172 RIPPLY2 NDUFAF6 LOXL3 GLB1 PTRH2 SPP1 NSDHL KAT6B EED GLI3 BRIP1 PTCH1 NUP133 ERCC3 PTPN11 IGLL1 NOTCH3 PRKCD SLC18A3 PORCN FLNA PTPN11 FLNC SLCO2A1 SCN1B HES7 CRLF1 MEGF8 MAP3K7 HDAC8 COL2A1 ATP6V1A CDC6 KAT6A PEX6 COL10A1 PSMD12 FGFR2 ATP6AP2 RNF168 TBX5 TRPS1 TOR1AIP1 NADSYN1 NAA10 SHROOM4 COL5A1 GDF6 SLC12A3 CLTCL1 GABRG2 TGIF1 ARID1B PIGN ERLIN2 BCOR GDF6 ARFGEF2 UBE2T MUSK CDC6 RASA2 CARS1 THOC2 RPL13 DHX16 BTK SKI ACTA1 SCN9A TRAPPC2 AP4S1 FLNA GSC TFAP2A ECEL1 LMBR1 SSR4 COL2A1 COMT ITGA6 NLRP3 CDC73 ASAH1 IHH MYH3 COL6A3 BRAF PIGV DYM TNNT3 FKRP MBTPS1 PIEZO2 ACTB PTCH1 C12ORF57 FRZB IL1RN FOXH1 SLC40A1 TGFB1 EXT2 MBTPS2 COL1A1 SALL1 VPS13B EBP IHH FANCA ROR2 NLRP1 COL2A1 TCF12 ACP5 TWIST1 FLNA FLNB DLL1 COLEC11 CCN2 SHH EP300 DDRGK1 TREX1 ITGA7 HSPG2 ATP7A GLI3 FGFR1 CHRNG SRP54 ATP7B GABRG2 NF1 GLI1 ARID1B SELENON WAS MAPK1 SOX5 F7 PSTPIP1 SYT2 TWIST2 DLL1 CCR1 ERGIC1 HIRA SLC26A2 PIK3R1 RECQL4 COL11A2 KIAA0319L GDF5 TELO2 DYM SSR4 FGFR3 RTN2 KIF5A CTLA4 GJC2 ERCC2 KDM5C HLA-DRB1 PYCR1 CHST3 RBM8A ZIC2 KIF7 LMNA TBX3 COL5A1 MYO18B YWHAE VWF DDB2 FCGR2B SIX3 SALL4 GBA GJB2 CYP27B1 ALG3 CLCN5 PNPT1 COL2A1 TPM2 WDR35 HLA-C EXOSC3 SNRPB SLX4 ACAN KY ACTA1 CDC73 ELN NOTCH3 KMT2D PPP2R5D SMARCAL1 RYR1 RYR1 JMJD1C VPS33A NIN CREBBP CCR6 HRAS LMX1B COLEC10 FKBP10 SIX3 SDHA ORC1 GTF2I MATN3 VWF ACTG1 SOX4 KLHL41 PTPN22 POR TNFSF11 VDR GABRD IGHM LAMB2 NALCN MATN3 MASP1 DOK7 COMP SERPINF2 GDF3 FGG COL2A1 HOXA11 LMNA GLA GMPPB SHH DSE RNU4ATAC ERCC1 ALX3 FLNA B3GLCT ATL3 ATP6V1E1 ITCH FBLN1 GJB2 IDUA TBX6 MECOM EXT2 COL2A1 NOG PAX3 F8 PPP1CB YY1 MAP2K1 COL2A1 FLNB FGFR1 PTH1R CREBBP TBX4 CDT1 EVC2 HBB MBTPS2 CTDP1 NAA10 ATP7A FAS GJA1 INPP5K FLVCR1 MAF GDF5 WASF1 RAF1 EXTL3 ZDHHC9 RRAS2 PUS3 TRPV4 MYOD1 VAC14 ATRX FGF16 TGFBR2 AUTS2 SPTA1 SERPINF1 GHR B3GALT6 ATP7A SMARCD1 ZC4H2 FLNA CCN6 C19ORF12 PTCH1 ACVR1 CA2 SYNE1 LMX1B NTRK1 IL2RB CHRNA1 COL2A1 EMD GMNN DYNC2H1 COL2A1 RSPRY1 UFSP2 RNASEH2B FKTN ANK1 PIGY BTNL2 NOP10 SMOC1 TP63 GDF5 PEPD FIG4 MAFB SAMHD1 SLC35D1 CAV1 WNT4 PYCR2 SLC26A2 MAP3K7 BICD2 NUP107 FGFR2 SALL4 SHH SHOC2 NOG FUZ FN1 RAD51 NFKBIL1 CRKL GORAB SLC12A3 DLL3 GLI3 MACROH2A1 CLCF1 NALCN SPART DYRK1A IL12A-AS1 RECQL4 L1CAM EXOC6B SIK3 MKKS SHOX CHRNG GABRA1 TONSL MYH3 ITGB4 SCARB2 PLOD2 FKRP XYLT1 NOG KIF1A NOG CD96 STAT4 GPHN NEPRO AP4B1 COL2A1 SLC52A3 CLIP2 CANT1 PIGT GLI1 FGFR3 FANCF UMOD TGDS POR MYH14 IARS2 GPC6 BAZ1B P4HTM UGP2 IL6 SIX3 GCM2 XRCC2 DNASE1L3 COLEC11 SIX1 FZD2 MEN1 LAMB3 MYH3 SLC39A8 SRD5A3 PAFAH1B1 CDON KMT2A MAP1B NRAS BLNK COL2A1 SMOC1 COL17A1 TNXB ZIC2 HACD1 NLRP3 MPLKIP FKBP10 NONO CAPN3 SPTBN4 COL6A2 FGFR3 GDF5 GABRD TGFBR2 ZSWIM6 BRCA1 SLC22A4 LMBR1 KCNAB2 RAPSN PTCH1 KIF5A VCP LARS2 F5 AGRN GLE1 MEFV SERPINF2 SNAP25 TRPS1 SHH FIG4 GJA1 ASXL1 GLI2 KIF22 SLC39A14 SCN2A TBX4 CTDP1 KLHL9 DDR2 DCC CCDC8 LAMC2 FUT8 TBX1 CLCN5 CHSY1 GPKOW GPX4 FAS GDF3 CNTNAP1 SKI ERCC2 ADAMTS3 PIGL ATL1 PUF60 SAMD9L KCNK9 NOD2 HSPG2 COL27A1 CBL SLC12A1 SLC37A4 IPW VPS13A PPP2R5D STUB1 NHP2 COL1A2 BMPER TNFRSF11B NOG CLCN7 SLC35A3 COPA ACVR1 NSD1 TRPV4 NKX3-2 WDR73 MYO9A DNAL4 FGFRL1 CUL7 IL12B FGFR2 CREBBP HTT HACE1 COL11A2 COL9A1 SMO NODAL COMP ARNT2 CPT2 XYLT1 MFN2 GPR101 MESP2 ARL6IP1 LMAN1 ZEB2 COL2A1 EFL1 UMOD FBXW11 CANT1 SDHB
    Protein Mutations 0
    SNP 0

    HPO

    Alphabetical listing of all HPO terms. Navigate: Correlations   Clinical Trials


    HPO Nodes


    HP:0001367: Abnormal joint morphology
    Genes 1641
    SMARCA4 SPG11 AEBP1 LPIN2 NLRP3 OBSL1 VEGFC PEX1 CAPN1 FXYD2 NTRK1 XYLT1 COL2A1 GAN GP1BB COL2A1 SH3PXD2B EXTL3 SEC61A1 SEC24C DKK1 FGFR3 GFPT1 RYR1 MMP14 CHN1 APOE AP4E1 POLR1A COL6A1 THRA NSD2 HGD KRAS PTH1R ERCC1 IL2RA RNU4ATAC FOXH1 IKBKG GTF2E2 NF1 EIF2AK3 RAD51 MMP13 ERCC4 ASXL1 LBR DVL3 IHH PSTPIP1 SEC31A HOXA11 FGFR3 NSD1 EIF4A3 FANCL EXOC6B GUSB PTPN2 COL9A2 SHROOM4 EVC C12ORF57 TPM3 SIL1 UCHL1 GNPTG FLNB HOXD10 DAG1 BRAF FBLN5 ACP5 ATP6V0A2 MAP2K1 TRIM2 HJV TIMM8A BRAF MECOM FLNA KIF1A PUF60 CHEK2 RASGRP1 FLNB FGFR2 PTDSS1 COL11A1 SCN2A CHST11 SOS1 ATP6V1A RAG2 PHGDH FGFR3 WNK1 GLI3 SBDS DYM NPAP1 RERE FANCM COL6A1 TNFAIP3 SNORD116-1 MEFV PTEN SLC2A10 OSGEP VPS13B GLI2 TBX15 TPM2 TRAPPC12 IL2RA HPGD COL1A1 NT5E HLA-DRB1 SIX6 GFM2 HOXA13 VANGL1 LMNA MATN3 GNPTAB SALL4 FANCG MKRN3 ASPN HPGD VDR LACC1 DNAJB11 MYH3 MYBPC1 F8 FGFR3 CDON ZFYVE27 RAF1 FGFR1 EVC2 NEDD4L SIX3 MUC1 TRPV4 TOR1A PDGFRB ADAMTSL2 RAB23 FAT4 ORC4 ZIC2 HFE PYCR1 ALDH18A1 MYD88 FGF8 SELENON MYOT SHH PSMB4 NODAL COL11A1 SKI HEPHL1 TRIP11 ERAP1 SMC1A GAS1 DLL3 CHRND TWIST1 LRP6 SHOX PAX3 TIMM22 COL2A1 DYRK1A COL1A1 BCOR RAB23 SCARF2 PTPN22 UBE3B CHRNG NSD1 KRAS IL12A COL11A2 GNAS NOD2 IRF5 DNAJC21 CCN2 WNT7A C19ORF12 EFNB1 GMNN FBN2 RMRP ALX1 ROR2 CYP7B1 TRPV4 RIPK4 FANCB EPB42 CCN6 KIF22 COL1A2 NUP107 SMAD3 IHH F2 NALCN CENPT REEP1 COL13A1 GJA1 SOD1 GNA11 CUL7 DDRGK1 TRPV4 IRF6 ANKRD11 FGB PLEC PLOD3 COL6A1 HUWE1 COL11A1 CD96 TGFB3 PSAT1 SLC39A13 LMBR1 ACAN FBN1 MIR140 HPRT1 HAMP LMNA COL2A1 MMP2 CDH3 PQBP1 IDUA HINT1 XPA ANKH PTH1R OFD1 IGHMBP2 SETD5 LRBA FERMT1 COMP MAN2B1 PRG4 ALDH18A1 FANCD2 IRF5 HOXA13 RMRP RFC2 MEOX1 TDGF1 ATR SOX9 GNPTAB PHEX SPTB IL6ST LRRC8A SLC35A2 HK1 NLRP3 MYL2 SOX2 TBR1 NT5C2 MED12 HLA-DRB1 ANKRD55 DKC1 ITGB4 MMP13 SHH SMG9 COL11A2 ALDH18A1 FOXH1 BMP2 MEFV DYSF PTH1R COL11A1 CBL GPHN TNNI2 SLC26A2 ARF1 DPAGT1 RRAS FGA TUBB3 ITGA6 FANCC DHCR7 ADAMTS2 AARS1 CDC73 CLCNKB ARSB COLQ F7 RAC3 BPTF OTULIN UBA1 TPM2 GAS1 SOS1 GALC ERCC5 CRTAP ERLIN2 HGD DONSON LIFR AEBP1 MEFV NFIX PIGL ATP6V1E1 COL6A3 IFT52 PTPN11 FLNA CD247 FA2H TGIF1 PHEX SMC3 EYA1 COL6A1 APC2 NTN1 CTNS TCTN3 SMARCC2 F10 TPRKB GLRB TDGF1 COL6A3 SCN9A DVL1 TGIF1 ZNF687 WDR4 COL9A2 TGDS COMP ANO10 SF3B4 UBE2A LFNG GDF5 FGFR2 MEOX1 ZIC1 SRY WNT5A NPR2 DHCR24 NALCN SMC1A GHR HPRT1 TFR2 SLC39A14 F8 COL2A1 TPM3 TFAP2B COL3A1 IFT57 RMRP DLL1 NXN SALL4 TBX22 IFITM5 KDM6A UNC80 CASP10 UFSP2 PTPN22 RAB3GAP2 HES7 ZDHHC9 SUFU F8 NOTCH2 COL5A1 NODAL ANKRD11 ANTXR2 F13B BMPR1B ORC6 ENPP1 SMARCB1 CSGALNACT1 SF3B4 PIEZO2 BCOR MCOLN1 MLXIPL HLA-DRB1 CHMP1A SLC37A4 TF CYP27B1 CPLX1 ATP6V0A2 SLC16A2 CHST3 DPF2 TFAP2B TMEM43 F9 SUFU HPRT1 DISP1 GAS1 GPC3 PRPS1 RB1 SLC29A3 CLCF1 ANKLE2 LARGE1 UFD1 CANT1 ALPL ANKH RAG1 FHL1 LMNA LMNA ERCC2 DLL1 TP53 EIF2AK3 GMPPB AKT1 SCN9A BMPR1B RNU4ATAC MMP2 ARID1A WAS HYAL1 G6PC ORC6 SPRTN MAFB ACTG2 DHODH CDON DAG1 ALX3 CD79A GDF5 CCBE1 TWIST2 LIFR COL5A2 FGF9 PWAR1 SMARCA2 SOX9 SLC40A1 TMTC3 TRPV4 SMARCAD1 BTK APC PIK3CD BRAF PIEZO2 PSMB8 VAMP1 FANCE FCGR2A RAD21 GPC4 COL11A1 AIP SERPINH1 GLI2 FANCI BAG3 DISP1 SMARCAL1 FGD1 SLC18A3 FGF8 BMP1 AP4M1 CD247 PSAP CENPJ SMARCE1 CHST14 WRN BCR COL2A1 ATAD1 DNASE1 NIPBL PCNT MYO9A MRAS AP4B1 SCN1A CLCN7 DPM1 IDUA IFIH1 GDF5 MYH7 ANKRD55 NOD2 GNE PLEKHG5 ZEB2 IFIH1 LETM1 USP9X GBA2 COL7A1 MAFB PSMB9 PLAU LMOD3 COL2A1 ZNF469 OCRL UBAC2 LMNA LBR NGLY1 FKBP10 SLC35A3 LMBR1 F13A1 COL2A1 ACAN SLC26A2 MORC2 TP53 HDAC8 GTF2H5 ERCC6 POMT1 PUF60 PTCH2 FLT4 ASAH1 ARID1B FLVCR1 MIF CSPP1 CCBE1 WNT7A SLC6A9 IRAK1 STAG2 EVC DDR2 ECE1 MMP13 POLR3A FGFR3 FGFR2 FGFR1 B3GAT3 ITGB4 PIEZO2 BTK SETD2 DCLRE1C SPART KNSTRN CBS CDON ZMPSTE24 ALG14 PTCH2 TCF3 ZMPSTE24 FHL1 KMT2D SLC40A1 MEGF10 RIPK4 FZD2 MYH7 MKRN3-AS1 B4GALT7 CCDC47 SLC25A1 ERCC4 GPC4 IL36RN BPNT2 SELENON COL9A1 PTPN22 RYR1 TPM2 HPGD SMC1A TGFBR1 PADI4 TRPV4 KLRC4 DNAJC21 B3GALT6 SAMHD1 GDF6 FLNB USP9X SMC1A COL9A3 NLRP3 ESCO2 SHH TBC1D7 AP2S1 ADAMTS2 TRPV4 LMBR1 WNT7A CCR6 EFNB1 HLA-B RAB33B STAT4 FGFR3 SETD2 CYP19A1 CHST3 AMER1 PITX1 FBN1 ATP6V0A2 ARVCF ERCC5 GCH1 SLC26A2 BMPR1B RECQL4 XRCC2 KLHL7 RECQL4 GGCX SDHD ADAR WHCR MMP13 UFSP2 TNNI2 MAP3K7 NOG CEP120 ESCO2 KY HOXD13 EXT1 COL2A1 NF1 FLNB PHGDH HRAS POP1 FLNA CD79B KDM6A FIG4 ALDH18A1 MTHFD1 FDFT1 MAP2K2 MIR140 MKKS PIK3R2 GLRA1 MCFD2 CAV1 PFKM IL10 FZD2 COL9A1 SLC4A1 ORC4 OFD1 EZH2 MCTP2 PIK3C2A FGF8 MAGEL2 SLC34A3 RAB18 EP300 GLRA1 SH3KBP1 SDHAF1 HACE1 TDGF1 LGI4 SOX11 IARS2 MAP3K7 EBP HCN1 MYH3 STAT3 F11 PITX1 BHLHA9 CHRM3 RIT1 BGN WIPF1 F2 NANS HNF4A FAS RNASEH2A TGIF1 NOG FN1 OSGEP SMAD4 ALG2 GTF2IRD1 LAGE3 DONSON SLC5A7 COL10A1 GDF5 MYH3 TP53RK ADAT3 CDC45 SMC3 STAG1 FKRP SHOX CUL4B STAT4 ADA2 SMAD3 FGFR2 COL6A2 ESCO2 FBN2 KDM6A SFRP4 GDF5 MYH8 MAD2L2 COL6A2 RFWD3 FGFR1 SLC6A5 COL12A1 TLR4 UPF3B MYBPC1 PTCH1 PORCN PLOD2 ERCC6 MED12 CTBP1 ADGRV1 NEB TBCD PWRN1 TNFRSF1A TRPS1 BRCA2 MYH8 C4A TREX1 UROS KANSL1 MMP1 PRKAR1A F13A1 ELN A2ML1 SHOX SETBP1 FLNA MVK GDF5 LMX1B ELP1 SALL4 RNF113A MAF SCN1A ALG9 TBL2 EMG1 IL10 MED12 AIFM1 LONP1 COL9A2 SRCAP BHLHA9 POMT2 STX1B ZC4H2 L1CAM PEX5 GLB1 GTF2H5 PLOD1 DYNC2I1 PRDM16 HS6ST1 COL6A2 CYP2R1 COL9A1 TRPV4 CIITA DISP1 HOXD13 CDC45 TBX4 OPA3 EXT1 COL7A1 GNPTAB LIMK1 HYAL1 NRAS BICD2 HLA-DRB1 FGFR2 FGFR3 SOS2 HBB PSAT1 PTPN22 FANCI LEMD3 TARS1 NOTCH2 TGFB1 DYNC2LI1 BMP4 NLRP3 EXT1 HJV MAP3K20 ZBTB20 SYNE2 RINT1 LZTR1 COL1A2 PIEZO2 SYNE1 EMD GJB6 SCN1B COL1A2 OCRL SPAST ORC1 POMT2 TPM2 COL11A2 KRAS HPRT1 RMRP GDF5 LAMA3 TUBB3 MMP14 SELENOI EZH2 KIF7 CFL2 FOXH1 CD244 PTPN11 CDT1 MUSK HERC2 ATP6V0A2 GAS1 BCOR KCNJ1 F10 COL6A3 ERCC3 HLA-B COL5A2 GDF5 FKBP10 TWIST1 COL12A1 NODAL GATA1 EFEMP2 KMT2A DISP1 ADGRG1 PTPN2 CYP26B1 TMEM70 LARGE1 COL12A1 PEX1 NALCN COL1A1 CYP2R1 NIPA1 ARID2 TBX15 ACTA1 BHLHA9 FGFR3 FASLG TNNI2 TDGF1 PPP2R3C PYCR1 SELENOI FGF8 BRAF TNNT3 POU3F4 PCDH19 RPS15A PAX3 FLNA ERCC2 ACAN NEB WDR73 MATN3 NIPBL SNORD115-1 PHF6 COL7A1 RAF1 RPL10 PEX2 STAG2 STXBP1 FLI1 STAT4 NOG SIL1 DSTYK HLA-B RNASEH2C STXBP1 RBM8A GRIA3 LONP1 GPC6 PALB2 FGFR2 SHOX FA2H TGFBR1 TPM2 ZIC2 TBX22 PRMT7 CTCF CTLA4 EFL1 AP3B1 GPC3 FLNB AGA RETREG1 NDN FOXP3 HNF1B COG5 PCYT1A FGFR2 FANCB DMP1 ENPP1 FBXL3 RPL26 COL9A3 PTCH1 CRLF1 EMG1 BGN COL1A2 STUB1 GLI2 EPCAM TRPV4 LRP4 COL9A3 COLEC10 ATP7B MESP2 CHST14 IL23R CHRM3 DHODH CTC1 DHCR7 LMBR1 XPC CHD4 SNRPN BMPR1B INPPL1 CHAT MASP1 KRAS PTDSS1 HFE ANO5 ERLIN1 CYP27A1 SLC18A3 MYH3 COL12A1 B3GALT6 ROR2 KAT6B ACTA1 PITX1 GLI3 NLRP12 RTTN PIEZO2 ABCG8 IL2RB MED25 TRAPPC2 MVK COG1 IRF6 RREB1 COL2A1 SLC10A7 CFI RAD51C FBLN1 MLX TNNT3 PKDCC TBX1 HOXD13 CNTN1 GEMIN4 ERMARD NIN SUZ12 SPG11 KIAA0586 PTEN PTRH2 TBX5 GCDH NUP88 CHSY1 GALNS AFF4 MATN3 KAT6B RUNX2 HNF1B IFT172 RIPPLY2 NDUFAF6 LOXL3 GLB1 PTRH2 SPP1 NSDHL KAT6B EED GLI3 BRIP1 PTCH1 NUP133 ERCC3 PTPN11 IGLL1 NOTCH3 PRKCD SLC18A3 PORCN FLNA PTPN11 FLNC SLCO2A1 SCN1B HES7 CRLF1 MEGF8 MAP3K7 HDAC8 COL2A1 ATP6V1A CDC6 KAT6A PEX6 COL10A1 PSMD12 FGFR2 ATP6AP2 RNF168 TBX5 TRPS1 TOR1AIP1 NADSYN1 NAA10 SHROOM4 COL5A1 GDF6 SLC12A3 CLTCL1 GABRG2 TGIF1 ARID1B PIGN ERLIN2 BCOR GDF6 ARFGEF2 UBE2T MUSK CDC6 RASA2 CARS1 THOC2 RPL13 DHX16 BTK SKI ACTA1 SCN9A TRAPPC2 AP4S1 FLNA GSC TFAP2A ECEL1 LMBR1 SSR4 COL2A1 COMT ITGA6 NLRP3 CDC73 ASAH1 IHH MYH3 COL6A3 BRAF PIGV DYM TNNT3 FKRP MBTPS1 PIEZO2 ACTB PTCH1 C12ORF57 FRZB IL1RN FOXH1 SLC40A1 TGFB1 EXT2 MBTPS2 COL1A1 SALL1 VPS13B EBP IHH FANCA ROR2 NLRP1 COL2A1 TCF12 ACP5 TWIST1 FLNA FLNB DLL1 COLEC11 CCN2 SHH EP300 DDRGK1 TREX1 ITGA7 HSPG2 ATP7A GLI3 FGFR1 CHRNG SRP54 ATP7B GABRG2 NF1 GLI1 ARID1B SELENON WAS MAPK1 SOX5 F7 PSTPIP1 SYT2 TWIST2 DLL1 CCR1 ERGIC1 HIRA SLC26A2 PIK3R1 RECQL4 COL11A2 KIAA0319L GDF5 TELO2 DYM SSR4 FGFR3 RTN2 KIF5A CTLA4 GJC2 ERCC2 KDM5C HLA-DRB1 PYCR1 CHST3 RBM8A ZIC2 KIF7 LMNA TBX3 COL5A1 MYO18B YWHAE VWF DDB2 FCGR2B SIX3 SALL4 GBA GJB2 CYP27B1 ALG3 CLCN5 PNPT1 COL2A1 TPM2 WDR35 HLA-C EXOSC3 SNRPB SLX4 ACAN KY ACTA1 CDC73 ELN NOTCH3 KMT2D PPP2R5D SMARCAL1 RYR1 RYR1 JMJD1C VPS33A NIN CREBBP CCR6 HRAS LMX1B COLEC10 FKBP10 SIX3 SDHA ORC1 GTF2I MATN3 VWF ACTG1 SOX4 KLHL41 PTPN22 POR TNFSF11 VDR GABRD IGHM LAMB2 NALCN MATN3 MASP1 DOK7 COMP SERPINF2 GDF3 FGG COL2A1 HOXA11 LMNA GLA GMPPB SHH DSE RNU4ATAC ERCC1 ALX3 FLNA B3GLCT ATL3 ATP6V1E1 ITCH FBLN1 GJB2 IDUA TBX6 MECOM EXT2 COL2A1 NOG PAX3 F8 PPP1CB YY1 MAP2K1 COL2A1 FLNB FGFR1 PTH1R CREBBP TBX4 CDT1 EVC2 HBB MBTPS2 CTDP1 NAA10 ATP7A FAS GJA1 INPP5K FLVCR1 MAF GDF5 WASF1 RAF1 EXTL3 ZDHHC9 RRAS2 PUS3 TRPV4 MYOD1 VAC14 ATRX FGF16 TGFBR2 AUTS2 SPTA1 SERPINF1 GHR B3GALT6 ATP7A SMARCD1 ZC4H2 FLNA CCN6 C19ORF12 PTCH1 ACVR1 CA2 SYNE1 LMX1B NTRK1 IL2RB CHRNA1 COL2A1 EMD GMNN DYNC2H1 COL2A1 RSPRY1 UFSP2 RNASEH2B FKTN ANK1 PIGY BTNL2 NOP10 SMOC1 TP63 GDF5 PEPD FIG4 MAFB SAMHD1 SLC35D1 CAV1 WNT4 PYCR2 SLC26A2 MAP3K7 BICD2 NUP107 FGFR2 SALL4 SHH SHOC2 NOG FUZ FN1 RAD51 NFKBIL1 CRKL GORAB SLC12A3 DLL3 GLI3 MACROH2A1 CLCF1 NALCN SPART DYRK1A IL12A-AS1 RECQL4 L1CAM EXOC6B SIK3 MKKS SHOX CHRNG GABRA1 TONSL MYH3 ITGB4 SCARB2 PLOD2 FKRP XYLT1 NOG KIF1A NOG CD96 STAT4 GPHN NEPRO AP4B1 COL2A1 SLC52A3 CLIP2 CANT1 PIGT GLI1 FGFR3 FANCF UMOD TGDS POR MYH14 IARS2 GPC6 BAZ1B P4HTM UGP2 IL6 SIX3 GCM2 XRCC2 DNASE1L3 COLEC11 SIX1 FZD2 MEN1 LAMB3 MYH3 SLC39A8 SRD5A3 PAFAH1B1 CDON KMT2A MAP1B NRAS BLNK COL2A1 SMOC1 COL17A1 TNXB ZIC2 HACD1 NLRP3 MPLKIP FKBP10 NONO CAPN3 SPTBN4 COL6A2 FGFR3 GDF5 GABRD TGFBR2 ZSWIM6 BRCA1 SLC22A4 LMBR1 KCNAB2 RAPSN PTCH1 KIF5A VCP LARS2 F5 AGRN GLE1 MEFV SERPINF2 SNAP25 TRPS1 SHH FIG4 GJA1 ASXL1 GLI2 KIF22 SLC39A14 SCN2A TBX4 CTDP1 KLHL9 DDR2 DCC CCDC8 LAMC2 FUT8 TBX1 CLCN5 CHSY1 GPKOW GPX4 FAS GDF3 CNTNAP1 SKI ERCC2 ADAMTS3 PIGL ATL1 PUF60 SAMD9L KCNK9 NOD2 HSPG2 COL27A1 CBL SLC12A1 SLC37A4 IPW VPS13A PPP2R5D STUB1 NHP2 COL1A2 BMPER TNFRSF11B NOG CLCN7 SLC35A3 COPA ACVR1 NSD1 TRPV4 NKX3-2 WDR73 MYO9A DNAL4 FGFRL1 CUL7 IL12B FGFR2 CREBBP HTT HACE1 COL11A2 COL9A1 SMO NODAL COMP ARNT2 CPT2 XYLT1 MFN2 GPR101 MESP2 ARL6IP1 LMAN1 ZEB2 COL2A1 EFL1 UMOD FBXW11 CANT1 SDHB
    Protein Mutations 0
    SNP 0

    Reports

    Data processed on September 26, 2020.

    An HTML report was created for each of the unique drugs, MeSH, and HPO terms associated with COVID-19 clinical trials. Each report contains a list of either the drug, the MeSH terms, or the HPO terms. All of the terms in a category are displayed on the left-hand side of the report to enable easy navigation, and the reports contain a list of correlated drugs, MeSH, and HPO terms. Further, all reports contain the details of the clinical trials in which the term is referenced. Every clinical trial report shows the mapped HPO and MeSH terms, which are also hyperlinked. Related HPO terms, with their associated genes, protein mutations, and SNPs are also referenced in the report.

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    691 reports on MeSH terms

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    263 reports on HPO terms

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