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D007592: Joint Diseases

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 (1)


Name (Synonyms) Correlation
drug2284 Observational Wiki 0.50

Correlated MeSH Terms (1)


Name (Synonyms) Correlation
D006467 Hemophilia A NIH 1.00

Correlated HPO Terms (2)


Name (Synonyms) Correlation
HP:0003125 Reduced factor VIII activity HPO 1.00
HP:0001367 Abnormal joint morphology HPO 1.00

Clinical Trials

Navigate: Correlations   HPO

There is one clinical trial.


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

HPO Nodes


HP:0001367: Abnormal joint morphology
Genes 1668
SMARCB1 COL2A1 GLRA1 B3GLCT GNPTAB MEGF8 CUL7 GDF5 KAT6B OFD1 NTN1 NTRK1 ATP6V1A PSAT1 ARVCF FIG4 RREB1 GJC2 HPGD NALCN SPG11 ALG14 CYP26B1 IFT172 MAFB CANT1 PAX3 AP4B1 CYP3A4 GJB6 HRAS HYAL1 CDC45 ERCC5 IL2RA GDF5 LMBR1 PCNT FOXH1 TARS1 CCR6 BRIP1 LAMC2 VPS13B BRAF RAB18 SEC24C IHH ERCC1 UROS MECOM ZIC1 B3GALT6 SLC37A4 FGFR3 FANCG GHR PTPN2 COL9A1 ENPP1 EVC2 FGFR3 FLNB ATP6V0A2 TPM2 COL6A1 FLNB NOD2 EFEMP2 SLC26A2 KRAS RYR1 ECE1 MYOT HAMP GJA1 KMT2A BMPER PIGT VPS13B PRKCD FLNB CCR6 DNAJB11 SLC10A7 COL1A2 COL2A1 SCN1B CBL ATP6V1E1 COL5A1 MAP2K2 SMC3 SNORD115-1 THRA PPP2R5D FANCL CPLX1 COL6A2 RAB23 MKRN3-AS1 FA2H RINT1 FGF9 HRAS GLI2 MAF TPM2 F8 IL2RA SMG9 TBX15 MVK CAV1 SOX2 PUF60 COL11A2 HOXA13 CCBE1 AGA NLRP3 COL12A1 FANCF PWRN1 LACC1 MYBPC1 KAT6A FLI1 MBTPS2 FGFR3 NT5C2 DISP1 MYD88 TP63 KRAS PITX1 KRAS ERMARD SIX3 C19ORF12 FN1 BTK NOTCH3 NIN CCBE1 ZIC2 TIMM22 PSMB9 NADSYN1 ERCC2 FLNA FGF8 NTRK1 CAPN3 SHH POMT2 KIF22 MCFD2 SCARB2 HACD1 CREBBP MMP2 NODAL NOTCH2 SKI PORCN ZFYVE27 RAD21 EZH2 GNAS IDUA DLL1 COL2A1 SLC35A3 TCTN3 NLRP1 IL10 EED SLC6A9 SSR4 SOS1 TONSL IL12A-AS1 PTPN11 CYP2R1 LPIN2 CCN2 MAP3K7 HLA-DRB1 UGP2 ATL3 PPP2R5D TBX4 FDFT1 GPKOW ANK1 SYNE2 SHOX CTLA4 PRG4 SLC26A2 WDR73 GDF5 CARS1 SLC18A3 DSE PEX1 RMRP DHODH CHSY1 FERMT1 KIF5A GALC FGFR3 FGA CUL4B DYNC2LI1 NT5E MMP13 EBP CSGALNACT1 BRAF FBN2 CHSY1 FBN1 ATP6AP2 ACVR1 CLCN5 SLC2A10 COMP PLEC ACTA1 XPA TNFRSF11B GDF5 COL2A1 INPP5K COMP LOXL3 PSMD12 COLEC11 KIF22 DCLRE1C FANCC LMNA WAS CCN2 GGCX ATP7B GLI2 RNU4ATAC COL6A3 SPTA1 MLX RMRP COL1A2 MCTP2 WNK1 SMAD3 IGLL1 BHLHA9 TPM3 SMOC1 PDGFRB FBLN1 COL12A1 PUF60 NDUFAF6 MUSK CDH3 NLRP3 HLA-DRB1 ANKRD55 NKX3-2 VWF COL11A1 CHST3 FOXH1 NOG PTPN11 GLRB TNNI2 EXOC6B TMTC3 GNPTAB TREX1 GFPT1 TFR2 FLNA SLC26A2 GHR ITGA6 PLEKHG5 FANCB STAT3 KY FA2H TBX5 CLCNKB F7 UBA1 TPM2 GAS1 PSAP ERCC5 COLEC11 CFI COL9A2 SLC29A3 KAT6B MEFV GNA11 MYH7 GJB2 ACTG2 IL1RN IRAK1 DLL3 FHL1 RYR1 FUT8 UBE2A CD247 SRD5A3 SLC34A3 PITX1 TGIF1 NSDHL BPNT2 SERPINH1 EYA1 SELENON MTHFD1 NOG ALX3 SETD2 PSTPIP1 SMARCD1 TELO2 F10 SLC52A3 COL10A1 EMG1 SHROOM4 NUP107 GLRA1 TDGF1 KY CDC73 ADA2 RIPK4 SCN1B POLR1A WNT5A KLHL9 SIX3 HOXD13 OPA3 LAGE3 SOX9 COL9A1 COL1A1 COMP FBN1 NPR2 HES7 DDRGK1 BMPR1B SLC39A14 FGFR2 GDF6 GLB1 ORC1 DPM1 TCF12 TOR1AIP1 MYH3 HSPG2 ALDH18A1 DVL3 SLC12A1 SELENOI ALG9 NALCN GDF6 GDF5 CYP27B1 SPTBN4 ANKRD11 TRPV4 COL5A2 NODAL SPRTN ROR2 KDM6A F9 NALCN PSMB4 RIPPLY2 NXN SUFU FGFR2 SOD1 NODAL BAG3 UCHL1 DHCR7 F13B HOXA11 PHF6 ARID2 ASXL1 PIEZO2 PLAU CAV1 BMP2 ABCG8 ACAN TF FZD2 ATP6V1E1 BTK GATA1 CTBP1 BHLHA9 COL11A2 MEGF10 PTEN CHST3 IRF6 SOX4 PSAT1 HINT1 SYNE1 BCOR FUZ SUFU CRTAP FGF8 GAS1 BMP4 CHEK2 ELN FGFR2 CRLF1 SMARCA2 FKRP RTL1 GP1BB GLI3 ADAMTS2 TPM2 EMD ZMPSTE24 DLL1 RB1 MYO9A LARGE1 PTEN ARID1B F8 NLRP12 TGFBR1 HFE ORC4 SIK3 COL11A1 SLC40A1 P4HTM AP4M1 MYH3 CDON UMOD TCF3 GPX4 CA2 TWIST2 SDHAF1 AP2S1 COL1A1 WNT4 COL2A1 CREBBP NPAP1 SOX9 MYH8 ESCO2 SLC40A1 NEDD4L GJA1 ZC4H2 KNSTRN IRF6 PIEZO2 SLC5A7 FANCD2 PTPN22 MMP13 IFIH1 GPC4 SMARCAL1 PUS3 CAPN1 ZIC2 DNAJC21 COL27A1 DISP1 SLC35A3 XYLT1 FGD1 CTC1 MED25 FOXH1 FLNA AP4E1 CD247 HJV IKBKG ARID1A EPB42 RSPRY1 FLNB FCGR2B RRAS AP4S1 SALL4 HCN1 DSTYK COMP FANCI LMNA TREX1 BMPR1B DDR2 IFIH1 ANKRD55 FGFRL1 FHL1 RMRP WNT7A MASP1 COL7A1 XYLT1 SALL4 COL12A1 LMOD3 TRPV4 CDC45 C4A DNAJC21 COLEC10 ZMPSTE24 YWHAE PLOD2 LBR SHH RAB33B VCP CHRM3 ACAN LGI4 TP53 PRMT7 TNFAIP3 ERCC2 COL2A1 PTCH2 MAP1B RAG2 SMARCA4 GUSB DHCR7 KDM5C MIF HES7 KIAA0586 C12ORF57 AMER1 SPP1 DYM LBR MKKS MYH3 TBCD FGFR3 PTPN22 FOXP3 FGFR2 THOC2 SOX5 ZNF469 RETREG1 CHST3 CDC73 KANSL1 PIEZO2 SATB2 IL6ST FKBP10 ACP5 TRAPPC12 HYAL1 ATP7A HOXD10 FANCB MMP14 BTK SCARF2 KLHL7 CDON GMPPB PTCH2 LRRC8A PHGDH ACAN RMRP ACTG1 AEBP1 KDM6A RYR1 SHH TBX15 ANAPC1 PWAR1 LONP1 AGRN CTCF TGDS ERCC4 FBLN5 MATN3 ACTA1 NIPBL SMAD4 TPM2 SLCO2A1 FGFR1 TGFBR2 SETD2 SLC37A4 PTPN22 TBR1 SRP54 FLNB TRPV4 FLVCR1 FRZB RAD51 COL9A2 FGFR3 COL1A2 MMP14 MED12 TGDS CCDC47 ADAT3 COL9A3 NOG EIF2AK3 APC2 PFKM DYM B3GALT6 VEGFC TNFRSF1A KIAA0319L CRLF1 TP53 NSD1 SMC1A PIEZO2 CREBBP ATP6V1A TBX1 ERCC6 IL10 DONSON COL2A1 LRP6 SPG11 CTNS FLNB WASF1 DDRGK1 PSTPIP1 SLC40A1 SDHB RYR1 PPP2R3C RNASEH2C NSD2 SAMD9L CYP2R1 NF1 NOP10 PEX5 F13A1 B3GALT6 TRPS1 NOG COL2A1 COL1A2 FBLN1 TRPV4 CCDC8 COL1A1 DNAL4 KIF1A ARFGEF2 IDS SSR4 MYH14 CD79A PIK3R1 LAMA3 MAP2K1 MKKS ATAD1 LMAN1 FLNA AFF4 ALDH18A1 RAB3GAP2 COL2A1 IL23R DVL1 F8 FBXW11 OFD1 TFAP2B ALDH18A1 FGF8 SNRPN LMNA ENPP1 GLI3 SDHD TDGF1 MATN3 DYSF SMARCE1 GCM2 POU3F4 SIX6 MYH3 F11 NOG HACE1 ANO5 SLC35D1 TBX4 KIF5A SOS1 NRAS WAS DHODH F2 DYRK1A FAS SAMHD1 TGIF1 GDF5 COL2A1 DPAGT1 G6PC1 GTF2I TNFRSF1A FBN2 ANKH TPRKB EFNB1 RIPK4 MYO9A SMARCAL1 COL13A1 GDF5 OSGEP GMNN SETD5 CSPP1 CCR1 HK1 POR AIP XYLT1 COL6A3 EFL1 BICD2 LMBR1 FAS MBTPS1 COL9A1 TWIST2 SKI RAD51 UPF3B ANTXR2 SYNE1 ANKH CHRND XRCC2 FGFR1 GPHN COL6A3 ERAP1 ZDHHC9 PTCH1 CHST11 BMPR1B NIN GDF3 GLI3 LETM1 STX1B TBX4 NEB HERC2 AIFM1 RFWD3 MBTPS2 IHH GPC4 HPRT1 KLRC4 DNASE1 PHEX RECQL4 MMP1 PRKAR1A F13A1 MLXIPL LZTR1 HLA-DRB1 ADAMTS2 CHMP1A DCC MIR140 MVK MEG3 DLK1 ITGB4 APOE GTF2E2 BAZ1B CIITA MED12 GRIA3 POMT1 GABRG2 ERCC3 RNU4ATAC TGFB3 KCNAB2 COL6A1 COL11A1 COL2A1 GALNS NFKBIL1 TRPV4 DISP1 ANKLE2 UBE3B KMT2D SLC6A5 LMNA COL7A1 HSPG2 ERCC6 HS6ST1 C12ORF57 GTF2IRD1 KRAS IARS2 PIGY WNT7A VWF FGFR3 RASA2 PHGDH NGLY1 PUF60 PTPN22 STAG1 FANCM FKRP HLA-C GDF5 ANO10 NOTCH2 ALPL NAA10 NLRP3 GLI1 FXYD2 PIK3CD EXT1 USP9X TBX5 WDR35 SERPINF1 TMEM43 LMNA RIT1 PIEZO2 CLCF1 CYP27A1 GNPTAB NLRP3 GJA1 GJB2 SCN1A TBX3 ATL1 CDC6 LAMB2 TPM2 RPL26 RAC3 ATP6V0A2 MORC2 TRPV4 GDF5 FIG4 COL11A1 IL36RN FGFR1 NSD1 COL3A1 KIF7 IFT57 CD96 SHOX CFL2 MYH8 PEX2 FOXH1 SLC22A4 COL12A1 RRAS2 CCN6 NIPBL PTRH2 GAS1 IHH ATP7A GMNN TUBB3 ADAMTS3 GLB1 COL6A2 COL2A1 ERCC3 F7 HLA-B COL5A1 FGFR2 CDON GNE KCNJ1 RAG1 DISP1 NLRP3 PTPN2 TMEM70 NEPRO COL11A2 FLNA NALCN FLNB CYP27B1 ERCC1 COL11A2 GLE1 MAP3K20 SIL1 FKTN NF1 UMOD SRY FAS TNNI2 LIFR TDGF1 GORAB ZNF687 SLC35A2 FGF8 CDC6 TNNT3 PTH1R STXBP1 CTLA4 TRIM2 GPHN ERCC2 AP4B1 ESCO2 ARL6IP1 MATN3 KMT2A ORC4 STXBP1 IPW TBC1D7 COL7A1 SERPINF2 UFSP2 PAX3 ELP1 GDF5 TGFBR2 STAG2 LMX1B GPR101 COL6A3 SALL4 COL2A1 TNNT3 LONP1 ZBTB20 STAT4 HOXD13 UNC80 HPGD MEFV UFSP2 RNASEH2B PTDSS1 GABRG2 PADI4 PHEX MAF ALG3 CYP7B1 FANCI CHRNG HBB CANT1 SPART CNTN1 TFAP2B SALL4 SELENON HTT ZIC2 TBX22 DOK7 SBDS WNT7A KDM6A GPC3 MAFB CYP19A1 LEMD3 MAGEL2 PQBP1 HNF4A COG5 DNASE1L3 FBXL3 RASGRP1 FANCA ASPN DMP1 MESP2 FLT4 MAN2B1 PTCH1 STUB1 GLI2 ARID1B APC BRAF CBL IDUA COL9A2 BCOR CNTNAP1 IL12A CHRM3 PLOD3 SHH TRPS1 XPC MKRN3 CD96 MYH7 ACP5 MIR140 DKK1 LIFR BRAF VAMP1 RTL1 DONSON WRN RBM8A MYH3 EXOC6B MACROH2A1 HPRT1 PIEZO2 PIGL IL2RB SHOX JMJD1C COL2A1 PALB2 SHROOM4 IL12B TNNT3 GEMIN4 TBX1 KAT6B FLNA EZH2 COL11A1 MPLKIP HPRT1 MADD GCDH LIMK1 MYO18B CLCN7 EP300 SPART STUB1 COL9A3 STAT4 MAP3K7 VAC14 MEOX1 COL7A1 BRCA2 NUP107 PTCH1 NOG WDR4 RNF113A BRAF IGHM COL6A1 FASLG SLC39A8 MUSK PYCR1 ATRX COL10A1 FLNC TNXB SMARCC2 SCN1A SLC39A14 TNNI2 RAB23 TRPV4 CENPJ PEX1 TRPV4 CHRNA1 PIK3R2 BPTF RPL13 ORC6 FGFR2 CUL7 RNF168 ESCO2 TGFBR1 PIGV IDUA GLI1 COL5A2 BCOR EFNB1 LPIN2 SLC12A3 GABRA1 TGIF1 SETBP1 ALG2 ERLIN2 FZD2 SLX4 CDT1 RECQL4 ATP6V0A2 ATR A2ML1 RPL10 PKDCC FGFR2 MEFV GDF5 GABRD ITCH ACTA1 SCN2A TFAP2A LARS2 GLI3 UFD1 PCYT1A ZDHHC9 RAF1 HNF1B ASAH1 INPPL1 DHX16 SERPINF2 UBE2T DKC1 CHRNG CDT1 SF3B4 NOG COL2A1 FGFR3 RUNX2 GLI3 KANSL1 PTCH1 EIF2AK3 SLC18A3 RECQL4 ACAN TDGF1 FKBP10 GCH1 MYOD1 HFE IFT52 SALL1 ZEB2 SMC1A MAP2K1 L1CAM GDF5 ERCC4 OCRL COL9A1 ROR2 COL9A3 TWIST1 PAX3 CDC73 TWIST1 SMC3 COG1 DAG1 MYBPC1 FLNA RAPSN DLL1 MASP1 HLA-DRB1 SHH TPM3 CPT2 ADAR DAG1 MYL2 HDAC8 STAG2 EFL1 NSD1 FGFR2 GABRD MEG3 ADGRV1 ATP7B KIF1A BCR SNAP25 NOTCH3 DLL1 EXTL3 ERGIC1 COMT EXOSC3 BLNK LMBR1 EMG1 IRF5 FCGR2A AUTS2 BTNL2 ABCD1 ADAMTSL2 PYCR1 OCA2 SHOX TGIF1 PIGN VDR SFRP4 HGD COL1A1 ATP6V0A2 PAFAH1B1 BGN DDB2 SHH TRPS1 ARID1B COL6A2 HACE1 OSGEP FKRP PLOD1 PTDSS1 YY1 PIK3C2A NOG AKT1 AARS1 UFSP2 COPA PEPD EVC2 SNRPB PNPT1 MYH3 MFN2 SLC26A2 RAD51C LARGE1 PLOD1 COL6A1 MUC1 DYM CLIP2 SPAST HIRA IRF5 GPC6 POP1 SIX3 TIMM8A LAMB3 ELN EXTL3 HJV ARSB PEX6 PORCN ACTB SOX11 FLVCR1 KLHL41 HPGD USP9X SHOC2 PTPN22 IGHMBP2 AP3B1 COL2A1 SCN9A COLQ MAFB COL2A1 COLEC10 HNF1B ALX1 GNPTG PTPN11 MEOX1 NRAS FGB DDR2 RPS15A GLA SELENON SMARCAD1 RAF1 NF1 SHH CHST14 MEN1 FLNA COL2A1 NFIX SLC12A3 PTH1R OCRL GMPPB FZD2 IFITM5 ALDH18A1 VPS13A EXT2 MEFV NOD2 COL11A2 NHP2 CLCN7 NOD2 FGF16 BHLHA9 ECEL1 LMBR1 TGFB1 PTPN11 SCN2A SLC26A2 FGFR1 HUWE1 ORC6 CBS KMT2D SOS2 WDR73 LMBR1 TRAPPC2 CASP10 SIL1 DLK1 ZEB2 BMPR1B CHN1 COL2A1 B3GAT3 CTDP1 MECOM EXT1 MED12 MRAS SCN9A COL2A1 TNFSF11 CHRNG MATN3 NUP88 FIG4 SHOX FLNA SMO CLCF1 SLC4A1 RTN2 ASXL1 GDF3 EVC ROR2 DPF2 FLNA CCN6 PTCH1 MMP2 LMNA IL2RB NLRP3 FN1 CHD4 ORC1 ZSWIM6 FGG HOXA11 MCOLN1 EXT2 RNASEH2A SPTB POLR3A TWIST1 SMOC1 REEP1 PRKCD HOXD13 BGN GSC COX8A PYCR2 LMBR1 PPP1CB VANGL1 TRIP11 CD244 KANSL1 MAP3K7 MAPK1 COL1A2 MESP2 HOXA13 IDS NLRP3 KIF7 BMP1 NANS DYRK1A ARNT2 L1CAM MMP13 NONO SCN9A GPC6 NALCN LMX1B PTRH2 ITGB4 GBA POMT2 CEP120 CANT1 SELENOI PIGL FGFR1 RECQL4 PITX1 AEBP1 STAT4 COL6A2 TOR1A TBL2 EVC FANCE TRPV4 WIPF1 TGFB1 MMP13 RFC2 SNORD116-1 GBA2 SALL4 BICD2 TRAPPC2 NEB IL6 LMNA EPCAM SIX3 BRCA1 PSMB8 CRKL PTH1R EXT1 SIX1 SH3PXD2B ALX3 SAMHD1 COL5A1 FKBP10 CDON B4GALT7 SLC18A3 PRPS1 SMC1A ARF1 RAF1 CD79B XRCC2 TRPV4 PRDM16 FGFR2 UBE3A ASAH1 ADGRG1 ZIC2 ITGA7 ERCC2 DYNC2H1 FKBP10 MATN3 IARS2 CLCN5 ACTA1 KCNK9 NUP133 GPC3 EIF4A3 DYNC2I1 HBB LRP4 RERE MAD2L2 RNU4ATAC ZC4H2 SKI POR EBP COL2A1 ANKRD11 SMC1A RTTN HGD F5 CHAT CHST14 SEC31A ITGA6 TLR4 TUBB3 TBX6 SLC25A1 PTCH1 TBX22 B3GALT6 SF3B4 GLI2 SRCAP OTULIN GAS1 F8 PCDH19 FGFR3 OBSL1 ATP7A SH3KBP1 BCOR STAT4 LMX1B ERLIN1 SMAD3 IHH FGFR3 GTF2H5 GTF2H5 FAT4 HPRT1 MYH3 UBAC2 NIPA1 RBM8A F10 NDN EMD COL17A1 DHCR24 SLC16A2 RECQL4 PRPS1 DLL3 ACVR1 GDF6 FGFR2 COL2A1 F2 TP53RK ERLIN2 SYT2 HEPHL1 CENPT WHCR GFM2 NAA10 GAN HLA-B FGFR3 EP300 PTH1R MAP3K7 HLA-DRB1 PLOD2 NODAL LRBA VDR PYCR1 ITGB4 CTDP1 HDAC8 SEC61A1 CLTCL1 LFNG C19ORF12 SLC39A13 VPS33A SUZ12 HLA-B SDHA
Protein Mutations 0
SNP 0

HPO

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


HPO Nodes


HP:0001367: Abnormal joint morphology
Genes 1668
SMARCB1 COL2A1 GLRA1 B3GLCT GNPTAB MEGF8 CUL7 GDF5 KAT6B OFD1 NTN1 NTRK1 ATP6V1A PSAT1 ARVCF FIG4 RREB1 GJC2 HPGD NALCN SPG11 ALG14 CYP26B1 IFT172 MAFB CANT1 PAX3 AP4B1 CYP3A4 GJB6 HRAS HYAL1 CDC45 ERCC5 IL2RA GDF5 LMBR1 PCNT FOXH1 TARS1 CCR6 BRIP1 LAMC2 VPS13B BRAF RAB18 SEC24C IHH ERCC1 UROS MECOM ZIC1 B3GALT6 SLC37A4 FGFR3 FANCG GHR PTPN2 COL9A1 ENPP1 EVC2 FGFR3 FLNB ATP6V0A2 TPM2 COL6A1 FLNB NOD2 EFEMP2 SLC26A2 KRAS RYR1 ECE1 MYOT HAMP GJA1 KMT2A BMPER PIGT VPS13B PRKCD FLNB CCR6 DNAJB11 SLC10A7 COL1A2 COL2A1 SCN1B CBL ATP6V1E1 COL5A1 MAP2K2 SMC3 SNORD115-1 THRA PPP2R5D FANCL CPLX1 COL6A2 RAB23 MKRN3-AS1 FA2H RINT1 FGF9 HRAS GLI2 MAF TPM2 F8 IL2RA SMG9 TBX15 MVK CAV1 SOX2 PUF60 COL11A2 HOXA13 CCBE1 AGA NLRP3 COL12A1 FANCF PWRN1 LACC1 MYBPC1 KAT6A FLI1 MBTPS2 FGFR3 NT5C2 DISP1 MYD88 TP63 KRAS PITX1 KRAS ERMARD SIX3 C19ORF12 FN1 BTK NOTCH3 NIN CCBE1 ZIC2 TIMM22 PSMB9 NADSYN1 ERCC2 FLNA FGF8 NTRK1 CAPN3 SHH POMT2 KIF22 MCFD2 SCARB2 HACD1 CREBBP MMP2 NODAL NOTCH2 SKI PORCN ZFYVE27 RAD21 EZH2 GNAS IDUA DLL1 COL2A1 SLC35A3 TCTN3 NLRP1 IL10 EED SLC6A9 SSR4 SOS1 TONSL IL12A-AS1 PTPN11 CYP2R1 LPIN2 CCN2 MAP3K7 HLA-DRB1 UGP2 ATL3 PPP2R5D TBX4 FDFT1 GPKOW ANK1 SYNE2 SHOX CTLA4 PRG4 SLC26A2 WDR73 GDF5 CARS1 SLC18A3 DSE PEX1 RMRP DHODH CHSY1 FERMT1 KIF5A GALC FGFR3 FGA CUL4B DYNC2LI1 NT5E MMP13 EBP CSGALNACT1 BRAF FBN2 CHSY1 FBN1 ATP6AP2 ACVR1 CLCN5 SLC2A10 COMP PLEC ACTA1 XPA TNFRSF11B GDF5 COL2A1 INPP5K COMP LOXL3 PSMD12 COLEC11 KIF22 DCLRE1C FANCC LMNA WAS CCN2 GGCX ATP7B GLI2 RNU4ATAC COL6A3 SPTA1 MLX RMRP COL1A2 MCTP2 WNK1 SMAD3 IGLL1 BHLHA9 TPM3 SMOC1 PDGFRB FBLN1 COL12A1 PUF60 NDUFAF6 MUSK CDH3 NLRP3 HLA-DRB1 ANKRD55 NKX3-2 VWF COL11A1 CHST3 FOXH1 NOG PTPN11 GLRB TNNI2 EXOC6B TMTC3 GNPTAB TREX1 GFPT1 TFR2 FLNA SLC26A2 GHR ITGA6 PLEKHG5 FANCB STAT3 KY FA2H TBX5 CLCNKB F7 UBA1 TPM2 GAS1 PSAP ERCC5 COLEC11 CFI COL9A2 SLC29A3 KAT6B MEFV GNA11 MYH7 GJB2 ACTG2 IL1RN IRAK1 DLL3 FHL1 RYR1 FUT8 UBE2A CD247 SRD5A3 SLC34A3 PITX1 TGIF1 NSDHL BPNT2 SERPINH1 EYA1 SELENON MTHFD1 NOG ALX3 SETD2 PSTPIP1 SMARCD1 TELO2 F10 SLC52A3 COL10A1 EMG1 SHROOM4 NUP107 GLRA1 TDGF1 KY CDC73 ADA2 RIPK4 SCN1B POLR1A WNT5A KLHL9 SIX3 HOXD13 OPA3 LAGE3 SOX9 COL9A1 COL1A1 COMP FBN1 NPR2 HES7 DDRGK1 BMPR1B SLC39A14 FGFR2 GDF6 GLB1 ORC1 DPM1 TCF12 TOR1AIP1 MYH3 HSPG2 ALDH18A1 DVL3 SLC12A1 SELENOI ALG9 NALCN GDF6 GDF5 CYP27B1 SPTBN4 ANKRD11 TRPV4 COL5A2 NODAL SPRTN ROR2 KDM6A F9 NALCN PSMB4 RIPPLY2 NXN SUFU FGFR2 SOD1 NODAL BAG3 UCHL1 DHCR7 F13B HOXA11 PHF6 ARID2 ASXL1 PIEZO2 PLAU CAV1 BMP2 ABCG8 ACAN TF FZD2 ATP6V1E1 BTK GATA1 CTBP1 BHLHA9 COL11A2 MEGF10 PTEN CHST3 IRF6 SOX4 PSAT1 HINT1 SYNE1 BCOR FUZ SUFU CRTAP FGF8 GAS1 BMP4 CHEK2 ELN FGFR2 CRLF1 SMARCA2 FKRP RTL1 GP1BB GLI3 ADAMTS2 TPM2 EMD ZMPSTE24 DLL1 RB1 MYO9A LARGE1 PTEN ARID1B F8 NLRP12 TGFBR1 HFE ORC4 SIK3 COL11A1 SLC40A1 P4HTM AP4M1 MYH3 CDON UMOD TCF3 GPX4 CA2 TWIST2 SDHAF1 AP2S1 COL1A1 WNT4 COL2A1 CREBBP NPAP1 SOX9 MYH8 ESCO2 SLC40A1 NEDD4L GJA1 ZC4H2 KNSTRN IRF6 PIEZO2 SLC5A7 FANCD2 PTPN22 MMP13 IFIH1 GPC4 SMARCAL1 PUS3 CAPN1 ZIC2 DNAJC21 COL27A1 DISP1 SLC35A3 XYLT1 FGD1 CTC1 MED25 FOXH1 FLNA AP4E1 CD247 HJV IKBKG ARID1A EPB42 RSPRY1 FLNB FCGR2B RRAS AP4S1 SALL4 HCN1 DSTYK COMP FANCI LMNA TREX1 BMPR1B DDR2 IFIH1 ANKRD55 FGFRL1 FHL1 RMRP WNT7A MASP1 COL7A1 XYLT1 SALL4 COL12A1 LMOD3 TRPV4 CDC45 C4A DNAJC21 COLEC10 ZMPSTE24 YWHAE PLOD2 LBR SHH RAB33B VCP CHRM3 ACAN LGI4 TP53 PRMT7 TNFAIP3 ERCC2 COL2A1 PTCH2 MAP1B RAG2 SMARCA4 GUSB DHCR7 KDM5C MIF HES7 KIAA0586 C12ORF57 AMER1 SPP1 DYM LBR MKKS MYH3 TBCD FGFR3 PTPN22 FOXP3 FGFR2 THOC2 SOX5 ZNF469 RETREG1 CHST3 CDC73 KANSL1 PIEZO2 SATB2 IL6ST FKBP10 ACP5 TRAPPC12 HYAL1 ATP7A HOXD10 FANCB MMP14 BTK SCARF2 KLHL7 CDON GMPPB PTCH2 LRRC8A PHGDH ACAN RMRP ACTG1 AEBP1 KDM6A RYR1 SHH TBX15 ANAPC1 PWAR1 LONP1 AGRN CTCF TGDS ERCC4 FBLN5 MATN3 ACTA1 NIPBL SMAD4 TPM2 SLCO2A1 FGFR1 TGFBR2 SETD2 SLC37A4 PTPN22 TBR1 SRP54 FLNB TRPV4 FLVCR1 FRZB RAD51 COL9A2 FGFR3 COL1A2 MMP14 MED12 TGDS CCDC47 ADAT3 COL9A3 NOG EIF2AK3 APC2 PFKM DYM B3GALT6 VEGFC TNFRSF1A KIAA0319L CRLF1 TP53 NSD1 SMC1A PIEZO2 CREBBP ATP6V1A TBX1 ERCC6 IL10 DONSON COL2A1 LRP6 SPG11 CTNS FLNB WASF1 DDRGK1 PSTPIP1 SLC40A1 SDHB RYR1 PPP2R3C RNASEH2C NSD2 SAMD9L CYP2R1 NF1 NOP10 PEX5 F13A1 B3GALT6 TRPS1 NOG COL2A1 COL1A2 FBLN1 TRPV4 CCDC8 COL1A1 DNAL4 KIF1A ARFGEF2 IDS SSR4 MYH14 CD79A PIK3R1 LAMA3 MAP2K1 MKKS ATAD1 LMAN1 FLNA AFF4 ALDH18A1 RAB3GAP2 COL2A1 IL23R DVL1 F8 FBXW11 OFD1 TFAP2B ALDH18A1 FGF8 SNRPN LMNA ENPP1 GLI3 SDHD TDGF1 MATN3 DYSF SMARCE1 GCM2 POU3F4 SIX6 MYH3 F11 NOG HACE1 ANO5 SLC35D1 TBX4 KIF5A SOS1 NRAS WAS DHODH F2 DYRK1A FAS SAMHD1 TGIF1 GDF5 COL2A1 DPAGT1 G6PC1 GTF2I TNFRSF1A FBN2 ANKH TPRKB EFNB1 RIPK4 MYO9A SMARCAL1 COL13A1 GDF5 OSGEP GMNN SETD5 CSPP1 CCR1 HK1 POR AIP XYLT1 COL6A3 EFL1 BICD2 LMBR1 FAS MBTPS1 COL9A1 TWIST2 SKI RAD51 UPF3B ANTXR2 SYNE1 ANKH CHRND XRCC2 FGFR1 GPHN COL6A3 ERAP1 ZDHHC9 PTCH1 CHST11 BMPR1B NIN GDF3 GLI3 LETM1 STX1B TBX4 NEB HERC2 AIFM1 RFWD3 MBTPS2 IHH GPC4 HPRT1 KLRC4 DNASE1 PHEX RECQL4 MMP1 PRKAR1A F13A1 MLXIPL LZTR1 HLA-DRB1 ADAMTS2 CHMP1A DCC MIR140 MVK MEG3 DLK1 ITGB4 APOE GTF2E2 BAZ1B CIITA MED12 GRIA3 POMT1 GABRG2 ERCC3 RNU4ATAC TGFB3 KCNAB2 COL6A1 COL11A1 COL2A1 GALNS NFKBIL1 TRPV4 DISP1 ANKLE2 UBE3B KMT2D SLC6A5 LMNA COL7A1 HSPG2 ERCC6 HS6ST1 C12ORF57 GTF2IRD1 KRAS IARS2 PIGY WNT7A VWF FGFR3 RASA2 PHGDH NGLY1 PUF60 PTPN22 STAG1 FANCM FKRP HLA-C GDF5 ANO10 NOTCH2 ALPL NAA10 NLRP3 GLI1 FXYD2 PIK3CD EXT1 USP9X TBX5 WDR35 SERPINF1 TMEM43 LMNA RIT1 PIEZO2 CLCF1 CYP27A1 GNPTAB NLRP3 GJA1 GJB2 SCN1A TBX3 ATL1 CDC6 LAMB2 TPM2 RPL26 RAC3 ATP6V0A2 MORC2 TRPV4 GDF5 FIG4 COL11A1 IL36RN FGFR1 NSD1 COL3A1 KIF7 IFT57 CD96 SHOX CFL2 MYH8 PEX2 FOXH1 SLC22A4 COL12A1 RRAS2 CCN6 NIPBL PTRH2 GAS1 IHH ATP7A GMNN TUBB3 ADAMTS3 GLB1 COL6A2 COL2A1 ERCC3 F7 HLA-B COL5A1 FGFR2 CDON GNE KCNJ1 RAG1 DISP1 NLRP3 PTPN2 TMEM70 NEPRO COL11A2 FLNA NALCN FLNB CYP27B1 ERCC1 COL11A2 GLE1 MAP3K20 SIL1 FKTN NF1 UMOD SRY FAS TNNI2 LIFR TDGF1 GORAB ZNF687 SLC35A2 FGF8 CDC6 TNNT3 PTH1R STXBP1 CTLA4 TRIM2 GPHN ERCC2 AP4B1 ESCO2 ARL6IP1 MATN3 KMT2A ORC4 STXBP1 IPW TBC1D7 COL7A1 SERPINF2 UFSP2 PAX3 ELP1 GDF5 TGFBR2 STAG2 LMX1B GPR101 COL6A3 SALL4 COL2A1 TNNT3 LONP1 ZBTB20 STAT4 HOXD13 UNC80 HPGD MEFV UFSP2 RNASEH2B PTDSS1 GABRG2 PADI4 PHEX MAF ALG3 CYP7B1 FANCI CHRNG HBB CANT1 SPART CNTN1 TFAP2B SALL4 SELENON HTT ZIC2 TBX22 DOK7 SBDS WNT7A KDM6A GPC3 MAFB CYP19A1 LEMD3 MAGEL2 PQBP1 HNF4A COG5 DNASE1L3 FBXL3 RASGRP1 FANCA ASPN DMP1 MESP2 FLT4 MAN2B1 PTCH1 STUB1 GLI2 ARID1B APC BRAF CBL IDUA COL9A2 BCOR CNTNAP1 IL12A CHRM3 PLOD3 SHH TRPS1 XPC MKRN3 CD96 MYH7 ACP5 MIR140 DKK1 LIFR BRAF VAMP1 RTL1 DONSON WRN RBM8A MYH3 EXOC6B MACROH2A1 HPRT1 PIEZO2 PIGL IL2RB SHOX JMJD1C COL2A1 PALB2 SHROOM4 IL12B TNNT3 GEMIN4 TBX1 KAT6B FLNA EZH2 COL11A1 MPLKIP HPRT1 MADD GCDH LIMK1 MYO18B CLCN7 EP300 SPART STUB1 COL9A3 STAT4 MAP3K7 VAC14 MEOX1 COL7A1 BRCA2 NUP107 PTCH1 NOG WDR4 RNF113A BRAF IGHM COL6A1 FASLG SLC39A8 MUSK PYCR1 ATRX COL10A1 FLNC TNXB SMARCC2 SCN1A SLC39A14 TNNI2 RAB23 TRPV4 CENPJ PEX1 TRPV4 CHRNA1 PIK3R2 BPTF RPL13 ORC6 FGFR2 CUL7 RNF168 ESCO2 TGFBR1 PIGV IDUA GLI1 COL5A2 BCOR EFNB1 LPIN2 SLC12A3 GABRA1 TGIF1 SETBP1 ALG2 ERLIN2 FZD2 SLX4 CDT1 RECQL4 ATP6V0A2 ATR A2ML1 RPL10 PKDCC FGFR2 MEFV GDF5 GABRD ITCH ACTA1 SCN2A TFAP2A LARS2 GLI3 UFD1 PCYT1A ZDHHC9 RAF1 HNF1B ASAH1 INPPL1 DHX16 SERPINF2 UBE2T DKC1 CHRNG CDT1 SF3B4 NOG COL2A1 FGFR3 RUNX2 GLI3 KANSL1 PTCH1 EIF2AK3 SLC18A3 RECQL4 ACAN TDGF1 FKBP10 GCH1 MYOD1 HFE IFT52 SALL1 ZEB2 SMC1A MAP2K1 L1CAM GDF5 ERCC4 OCRL COL9A1 ROR2 COL9A3 TWIST1 PAX3 CDC73 TWIST1 SMC3 COG1 DAG1 MYBPC1 FLNA RAPSN DLL1 MASP1 HLA-DRB1 SHH TPM3 CPT2 ADAR DAG1 MYL2 HDAC8 STAG2 EFL1 NSD1 FGFR2 GABRD MEG3 ADGRV1 ATP7B KIF1A BCR SNAP25 NOTCH3 DLL1 EXTL3 ERGIC1 COMT EXOSC3 BLNK LMBR1 EMG1 IRF5 FCGR2A AUTS2 BTNL2 ABCD1 ADAMTSL2 PYCR1 OCA2 SHOX TGIF1 PIGN VDR SFRP4 HGD COL1A1 ATP6V0A2 PAFAH1B1 BGN DDB2 SHH TRPS1 ARID1B COL6A2 HACE1 OSGEP FKRP PLOD1 PTDSS1 YY1 PIK3C2A NOG AKT1 AARS1 UFSP2 COPA PEPD EVC2 SNRPB PNPT1 MYH3 MFN2 SLC26A2 RAD51C LARGE1 PLOD1 COL6A1 MUC1 DYM CLIP2 SPAST HIRA IRF5 GPC6 POP1 SIX3 TIMM8A LAMB3 ELN EXTL3 HJV ARSB PEX6 PORCN ACTB SOX11 FLVCR1 KLHL41 HPGD USP9X SHOC2 PTPN22 IGHMBP2 AP3B1 COL2A1 SCN9A COLQ MAFB COL2A1 COLEC10 HNF1B ALX1 GNPTG PTPN11 MEOX1 NRAS FGB DDR2 RPS15A GLA SELENON SMARCAD1 RAF1 NF1 SHH CHST14 MEN1 FLNA COL2A1 NFIX SLC12A3 PTH1R OCRL GMPPB FZD2 IFITM5 ALDH18A1 VPS13A EXT2 MEFV NOD2 COL11A2 NHP2 CLCN7 NOD2 FGF16 BHLHA9 ECEL1 LMBR1 TGFB1 PTPN11 SCN2A SLC26A2 FGFR1 HUWE1 ORC6 CBS KMT2D SOS2 WDR73 LMBR1 TRAPPC2 CASP10 SIL1 DLK1 ZEB2 BMPR1B CHN1 COL2A1 B3GAT3 CTDP1 MECOM EXT1 MED12 MRAS SCN9A COL2A1 TNFSF11 CHRNG MATN3 NUP88 FIG4 SHOX FLNA SMO CLCF1 SLC4A1 RTN2 ASXL1 GDF3 EVC ROR2 DPF2 FLNA CCN6 PTCH1 MMP2 LMNA IL2RB NLRP3 FN1 CHD4 ORC1 ZSWIM6 FGG HOXA11 MCOLN1 EXT2 RNASEH2A SPTB POLR3A TWIST1 SMOC1 REEP1 PRKCD HOXD13 BGN GSC COX8A PYCR2 LMBR1 PPP1CB VANGL1 TRIP11 CD244 KANSL1 MAP3K7 MAPK1 COL1A2 MESP2 HOXA13 IDS NLRP3 KIF7 BMP1 NANS DYRK1A ARNT2 L1CAM MMP13 NONO SCN9A GPC6 NALCN LMX1B PTRH2 ITGB4 GBA POMT2 CEP120 CANT1 SELENOI PIGL FGFR1 RECQL4 PITX1 AEBP1 STAT4 COL6A2 TOR1A TBL2 EVC FANCE TRPV4 WIPF1 TGFB1 MMP13 RFC2 SNORD116-1 GBA2 SALL4 BICD2 TRAPPC2 NEB IL6 LMNA EPCAM SIX3 BRCA1 PSMB8 CRKL PTH1R EXT1 SIX1 SH3PXD2B ALX3 SAMHD1 COL5A1 FKBP10 CDON B4GALT7 SLC18A3 PRPS1 SMC1A ARF1 RAF1 CD79B XRCC2 TRPV4 PRDM16 FGFR2 UBE3A ASAH1 ADGRG1 ZIC2 ITGA7 ERCC2 DYNC2H1 FKBP10 MATN3 IARS2 CLCN5 ACTA1 KCNK9 NUP133 GPC3 EIF4A3 DYNC2I1 HBB LRP4 RERE MAD2L2 RNU4ATAC ZC4H2 SKI POR EBP COL2A1 ANKRD11 SMC1A RTTN HGD F5 CHAT CHST14 SEC31A ITGA6 TLR4 TUBB3 TBX6 SLC25A1 PTCH1 TBX22 B3GALT6 SF3B4 GLI2 SRCAP OTULIN GAS1 F8 PCDH19 FGFR3 OBSL1 ATP7A SH3KBP1 BCOR STAT4 LMX1B ERLIN1 SMAD3 IHH FGFR3 GTF2H5 GTF2H5 FAT4 HPRT1 MYH3 UBAC2 NIPA1 RBM8A F10 NDN EMD COL17A1 DHCR24 SLC16A2 RECQL4 PRPS1 DLL3 ACVR1 GDF6 FGFR2 COL2A1 F2 TP53RK ERLIN2 SYT2 HEPHL1 CENPT WHCR GFM2 NAA10 GAN HLA-B FGFR3 EP300 PTH1R MAP3K7 HLA-DRB1 PLOD2 NODAL LRBA VDR PYCR1 ITGB4 CTDP1 HDAC8 SEC61A1 CLTCL1 LFNG C19ORF12 SLC39A13 VPS33A SUZ12 HLA-B SDHA
Protein Mutations 0
SNP 0

Reports

Data processed on January 01, 2021.

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.

Drug Reports   MeSH Reports   HPO Reports  

Interventions

4,818 reports on interventions/drugs

MeSH

706 reports on MeSH terms

HPO

306 reports on HPO terms

All Terms

Alphabetical index of all Terms

Google Colab

Python example via Google Colab Notebook