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D010523: Peripheral Nervous System 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
drug3942 lifestyle modification Wiki 1.00

Correlated MeSH Terms (2)


Name (Synonyms) Correlation
D003929 Diabetic Neuropathies NIH 1.00
D018149 Glucose Intolerance NIH 0.58

Correlated HPO Terms (1)


Name (Synonyms) Correlation
HP:0001271 Polyneuropathy HPO 1.00

Clinical Trials

Navigate: Correlations   HPO

There is one clinical trial.


1 Improving Autonomic Function and Balance in Diabetic Neuropathy

Type 2 diabetes (DM2) affects nearly 20 million people in the United States while impaired glucose regulation (IGR), which includes impaired glucose tolerance (IGT), impaired fasting glucose (IFG), and early diabetes affects a considerably larger but unknown population group. At the current time there is no effective therapy to completely prevent, or reverse neuropathy associated with IGR and this represents a considerable challenge in rehabilitation. There is a particularly strong incentive to prevent IGT and related complications from advancing to DM2. IGR is a growing problem among all older adults and its strong association with many functional limitations, particularly mobility limitations, is not always recognized, even though diabetes-related disability occurs in up to 2/3 of older adults with diabetes and is associated with dependency, poor quality of life, and increased acute and long-term care utilization. Autonomic dysfunction is a significant problem in subjects with IGT. The Preliminary Data shows that over 90% of subjects with IGT have an abnormal score on questionnaires about autonomic symptoms such as lightheadedness, dry mouth or dry eyes, pale or blue feet, feet that are colder than the rest of the body, decreased sweating in the feet or increased sweating in the hands, nausea or bloating after eating, persistent diarrhea or constipation, or leaking of urine. In addition, patients with IGR have impaired balance control. These factors can increase the risk of falls in affected subjects. A non-randomized and non-controlled study showed that a diet and exercise intervention in patients with diabetes led to an overall improvement in autonomic function. Furthermore, it was shown that standing balance can be improved with a balance intervention program. However, there are no published studies that assess the effect of an intense physical activity intervention on autonomic function in IGR related neuropathy. This study will test an aerobic exercise and balance intervention in participants with IGR. The investigators will examine if an individually tailored, carefully monitored, Diet, Physical Activity, and Balance Enhancement Program (DPAEP) can improve autonomic function and balance control when compared to patients who receive standard care. Improving balance control and autonomic function can decrease the risk of falls and have a significant effect on the health of participants. The research is also significant because it will test subjects either before they become diabetic, or at an early stage in their diabetes, thus enhancing the chance of reversing the autonomic neuropathy or balance impairment. Furthermore, the study is designed to test whether improvement in autonomic function and balance is associated with improvement in clinical outcomes, quality of life, and the metabolic state of participants. Thus, the proposed interventions are likely to have a real life impact on participants and their health.

NCT01864460
Conditions
  1. Diabetes
  2. Neuropathy
  3. Impaired Glucose Tolerance
Interventions
  1. Behavioral: lifestyle modification
MeSH:Peripheral Nervous System Diseases Diabetic Neuropathies Glucose Intolerance
HPO:Abnormal peripheral nervous system morphology Peripheral neuropathy Polyneuropathy

Primary Outcomes

Description: This is a cardiac autonomic measure that will be carried out using clinical equipment in the autonomic laboratory at the site. The measurement requires placing electrodes near the heart similar to an EKG.

Measure: Autonomic Function: heart rate variability

Time: 12 months

Secondary Outcomes

Description: This outcome measure assesses changes in trunk positioning using a standardized, validated test.

Measure: balance

Time: 6 and 12 months

Other Outcomes

Description: This outcome assesses sweat gland nerve fiber density, which is proposed as a sensitive neuropathy pathology biomarker.

Measure: Sweat gland nerve fiber density

Time: 12 months

HPO Nodes


HP:0000759: Abnormal peripheral nervous system morphology
Genes 1392
SGCD KCNJ1 TCIRG1 EDN3 CLCN4 NEB ELP1 TSC2 FMR1 PMP22 GNB4 REEP2 ARHGEF10 COMP DMXL2 EPCAM POLG NF1 NEFL SPTBN2 PNPLA6 ERCC3 MEFV MAG ADCY6 NEB GABRG2 CD59 CTLA4 KCNJ11 SOST NEFL SACS CRAT COASY TPI1 SLC2A1 NDUFS7 MAPT WASHC5 TK2 EGR2 SIX1 SLC52A3 TYMP SALL4 OPA3 CHD7 ARHGEF6 GNA11 MTRR HLA-DRB1 DNA2 CHMP2B CCR1 TRPV4 ND4 TPM2 MLH3 GFPT1 NEB MSH2 POLG2 KCNQ3 AGRN MYD88 AK9 MEGF10 VPS13A KIF1A TWNK COL3A1 SIGMAR1 COLQ ARX AP1B1 AKT1 ERCC3 HLA-DQB1 GAN TTPA HRAS RPIA RNF113A RAI1 TFAP2A SEMA3E XRCC4 CHST14 BSCL2 HSPB1 GNAS UCHL1 REEP1 TRNW PHYH INSR ALDH18A1 ND4 KIF5A MAG TREX1 RAD21 DAXX C4A NALCN ALDH18A1 CYTB TPM2 RPS6KA3 SCN8A LRP12 VRK1 ARSA SQSTM1 CLCN7 MME RET GLA DSE ARSB IGHMBP2 LYST NDUFV1 PNKP RAI1 RFC1 RAB18 COA7 ALDH18A1 SLC25A11 ARSA AP1S1 SLC18A3 TBC1D20 WFS1 ASCL1 ABCC8 GMPPB MPL OPA1 ABHD12 MTMR2 LDB3 SALL4 MTTP SOST SDHA DGUOK ATXN8OS SUFU ERCC4 AGPAT2 FAM126A COLQ ATAD3A JPH1 MICU1 HSD17B4 MAGEL2 ANKH HSD3B7 GNE MYH14 NF2 PMM2 UBQLN2 ND5 NF2 FAS SNORD115-1 ZFYVE26 HNRNPA2B1 HACE1 COCH REEP1 MRE11 TARDBP TGM1 DNMT1 SDHD PSAP TTC19 AGRN SNX10 POLG ERCC6 SPG11 SMO WIPF1 DLST NF2 SELENOI ACTA1 TK2 PRKCG ATP7B DLL4 AIFM1 PLD3 SUMF1 DGUOK KIF1A BAP1 SDHB ANKH DEAF1 SPG7 PMP22 SLC25A19 SNRPN CYP2U1 GALC CHRNB1 PDE4D PHF6 GCK ERCC2 SQSTM1 PEX5 KLC2 WAS PEX11B CLCN7 DNMT1 ZFYVE26 C19ORF12 PIK3R5 IL23R PLEKHM1 ATP6 SIX1 RFC1 ERCC3 ERAP1 MAFB GJC2 MCM3AP ATP13A2 APC DMPK ADAR PEX19 IQSEC2 DKK1 RETREG1 IFIH1 PLA2G6 MSH6 WFS1 CEP126 PMS1 ERCC2 POLG APC PMP22 COL6A1 SOST SLC25A1 HBB ZNF41 LRP5 MEN1 HSPB1 TPM3 DNAJB6 MDH2 GSN ND6 SDHAF2 TBC1D24 RRM2B RNF43 DNMT3A GALC PPOX HLA-B GARS1 POLG LMNB1 ND4L KCNK9 DDB2 ATXN7 FKRP FKTN CHAMP1 C11ORF95 SYP HINT1 SLC2A1 SDHB NDUFA10 TRNL1 KCNC3 ABCA1 ND3 MPZ MYPN TGFB1 FUS SLC18A3 SLC9A7 SPG7 CCT5 CHRND SMN1 SLC12A1 SBF2 MTFMT MEOX1 SOX10 ND6 FA2H PWRN1 RPS20 KMT2A SIGMAR1 NOTCH3 KCNQ1OT1 AGXT NDUFAF3 TREM2 NIPA1 MME NDUFA4 TIMM8A TNFRSF11A ACTA1 ND2 MAT1A FBLN5 GFPT1 GJB1 PRKAR1A LRP4 LYST AP5Z1 ERCC4 SLC25A11 FLVCR1 PEX10 WASHC5 DNM1L KIF1B AMACR PMM2 RTN2 FBXO38 CDKN2B TRNL1 MED12 HDAC8 FGF14 TUBB6 SDHC DCTN1 AIFM1 TRIM32 PLEC ALAD GMPPB OSTM1 ABCC8 COL13A1 RAB3GAP1 KLHL41 SNAP29 KARS1 SH3TC2 ACTA1 CHRNA1 CHCHD10 TREX1 VHL ABCC8 AMACR ATXN10 APC SDHB NDUFB8 VHL GBA2 DHTKD1 GDAP1 NGLY1 PRICKLE1 PMS2 SMN1 POLG SDHB BEAN1 UBTF TRNF ERCC5 HINT1 ATRX REEP1 NDUFA13 ERLIN2 SMN1 SLCO2A1 PHOX2B AMER1 SDHD VHL GCDH RAI1 HCFC1 FUS MYOT CDKN1B ERCC1 DMXL2 LZTR1 GNA14 DHH MSTO1 MANBA COX3 HARS1 ARSA ATP1A1 ANO5 PIK3CA PPP2R2B IBA57 GCLC MYF6 TNFRSF11A MFN2 CBLIF ND1 TPM3 SDHD SPG11 GALC DCAF8 GDNF ALDH18A1 SBF1 SDHC ND1 LRP5 LMNA GARS1 PEX7 XRCC1 PHOX2B SPAST ABCD1 PEX3 NAGA RAB7A PNPT1 BTNL2 RET MEN1 TRIM2 ADPRS COASY PDCD1 BDNF FIG4 OPA1 SLC12A6 NFASC LMNA GNAS PHOX2B MUSK TGFBR2 AFG3L2 SLC30A10 CLCF1 DAB1 H19 PEX6 GDNF FXN VPS37A SMPD1 MYH14 CNTNAP1 HADHA PLEKHG4 TPI1 CNKSR2 NF1 ATXN8 NEU1 PDYN TCIRG1 DDHD1 ERCC5 SCN9A BIN1 RYR1 POLG LIFR PMP22 MFN2 PTPN22 DMPK SEMA4A TWNK WDR48 POLG2 GCH1 GBA2 DGUOK SETX TRNS2 ASCL1 TRPV4 RYR1 CAPN1 CTLA4 GJB1 CYP7B1 ATXN3 ACTA1 TRAF7 GDAP1 SCN9A COL12A1 GCGR CDKN1A SDHD REV3L UBTF CHRNA1 CACNA1G COA8 MYH7 THSD1 PIK3CA CAVIN1 SLC12A3 MYOT SIGMAR1 CPT1C RNF170 ADSS1 REEP1 BSCL2 PTCHD1 ACSL4 PDK3 PMP22 TTN BAP1 TACO1 ANO5 FAH ADAT3 B4GALNT1 TTR IDUA VCP HFE SAR1B ERCC6 HARS1 BMPR1A KLC2 ERCC3 VCP POLR3B TBK1 HADHB CHCHD10 ZFHX2 MEN1 NDUFV2 TPM3 HSPD1 CLCNKB BRAF SPEG SLC30A10 ZNHIT3 GRIN2A COL6A2 ND2 SLC33A1 INS SURF1 MYH7 CHRNB1 STAT4 LMOD3 MPZ HOXB1 EXT2 MPV17 TBCE TPM2 RETREG1 PRPS1 ATP6 SLC52A2 SNAP29 ITGB4 KLHL40 DOK7 ALG13 KY SCP2 AAAS KIF1C ALS2 TPM3 SCN9A BTNL2 GNPTAB MPZ PAK3 SMARCB1 EGR2 SPART IBA57 SPG11 SDHB SDHA SETX IDUA ERCC2 C9ORF72 PDHA1 TBC1D24 MPL SLC25A15 DHH CALR CD28 CASR MLH1 MPC1 TBCE FLII SETD5 CHRND FRMPD4 GFPT1 ATP6 SMCHD1 SNORD116-1 ENG PRPS1 SACS NDUFS2 ND4 POMT1 CHAT TSC1 PEX10 FLRT1 HMBS ELOVL4 LARGE1 PRKAR1A GPI ATL1 PPP2R2B DMD VCP TRNK PMP22 PEX7 RET TBCD AFG3L2 CACNA1A ATP5F1E POLG IGHMBP2 MARS1 RNASEH2A SUMF1 CHRNE HLA-DRB1 TRNV PSAP RET MEN1 C12ORF65 ARL6IP1 CLCN7 ATXN1 KCNJ10 SMARCE1 PSAP IARS2 C12ORF65 TXN2 C12ORF65 TDP1 COL1A1 ALS2 AARS1 SLC19A2 DNAJB2 TGFB1 GDAP1 GBE1 UBA1 GNAS TBL1XR1 TRAPPC11 BAG3 ZNF81 DSTYK SETX BMS1 GLE1 SLC39A14 LRP4 NDUFS1 DYNC1H1 LIPT1 TTR MPLKIP PDX1 SCN11A SUCLA2 PRRX1 PSAP CPOX JAK2 ND1 NARS2 ATXN8OS PLEKHG5 KCNJ11 KLHL9 NOTCH3 LTBP3 PMP22 DNM2 PEX7 SIX5 TPP1 NDUFS8 LRSAM1 IL12A-AS1 RELA PWAR1 ECHS1 PDYN TDP1 RRM2B CASR ATP6 UGT1A1 PSEN1 PRPH THPO NGF STAT3 RAB39B ADA2 SDHC CHRND MAPT GDNF MPZ NGF PNPT1 C19ORF12 HADH DNM2 SERPING1 PMP22 CHRNA1 XPC HSPB3 AIFM1 RYR1 PET100 AEBP1 KLRC4 ERCC8 NDUFAF2 SLC5A7 TNFSF11 KIF1A WARS1 POLG PRNP TRNQ MORC2 MPV17 TP53 COX3 GCLC COL6A2 NDUFS2 MME ATXN3 IL1RAPL1 SHANK3 SCO2 NDUFS2 HK1 CACNA1G SCN4A SPG11 ELOVL5 CA2 POLG HK1 MYD88 COL13A1 MYMK B2M ZC4H2 NF1 TRPM7 GBE1 ELOVL5 NF1 OTX2 GJC2 PABPN1 FKRP COX3 SDHD CHRNE MTHFR COL6A3 GRN SDHA KIF1A FMR1 PEX1 VCP NOD2 MID2 PNPLA6 CRPPA KIF5A NDN GCK SELENON LAMA2 ATXN1 LRP5 APTX DYNC1H1 RYR1 LRPPRC IQSEC2 PMP22 COL4A1 TNFSF11 AR ATL3 AAAS SELENON DST COL13A1 FOXRED1 CCM2 GALC NTRK1 SCN10A FOS CISD2 GRM1 MICU1 NF1 TSPAN7 HFE CLCN7 RAI1 SYNE1 RNASEH2B CNTNAP1 PLEC JAK2 TBP HLA-DPB1 PRPS1 PRRT2 SCN11A TFG TRNS1 LMNA ND5 SMC1A SDHC PEX16 PPARG TWNK SPTBN4 ARSA CDKN2C SOST TRNH NAGS ALG14 PEX11B PEX6 SLC19A3 C9ORF72 HSPB1 NAGLU ALS2 DARS2 MYO9A MED25 TFG PEX5 SEPTIN9 IL12A AP5Z1 RET SLC52A2 GSN SDHB INPP5K C12ORF65 SIL1 DLST TPP1 PRRT2 PEX12 SGPL1 SCN10A SNAP25 MOCS2 BSCL2 IDUA DPAGT1 NDUFA12 PLEKHG5 ADA2 EYA1 ALAD ND5 ATXN2 TXN2 SCN4A TCIRG1 AR XK KCNJ11 SLC25A15 FUCA1 CHRNE TPM2 GRIA3 INF2 WNK1 SLC25A46 SPG7 MGME1 SCYL1 PPOX PSAP CDKL5 SIX1 CHKB SOD1 COX1 MFN2 CLP1 CCND1 CDKN1B TYMP NDRG1 ND5 ARSI SDHB LRP4 RYR1 PRTN3 IDUA EYA1 ND6 HSPD1 TARS1 ZNF711 ELP1 PEX10 COX15 MTMR14 ACTA1 RYR1 ATP7A STX16 RET AHCY DNM2 KIT MFF PNKP PLP1 GDI1 NTRK1 CAV1 RNASEH2C TK2 TTN TRNW ERCC2 SLC52A3 CFL2 FGF14 NDUFA2 COX2 ASCC1 RET KCND3 GMPPA NIPA1 NGLY1 MFN2 GNAQ ATL1 PDSS1 SLC5A7 DNAJC3 MPZ MAX ATP6 TPM2 IPW TMEM106B PMP2 SAR1B SYT2 NDUFA9 HADHB GJB1 LAMB2 SLC25A4 SLC25A21 TPRKB POMT1 CHRNA1 ND6 PMP22 CLCN7 MTM1 MTMR14 TNFRSF1B OPA1 AMER1 DNAJC3 LIFR ACO2 NALCN SHANK3 TRIP4 CAPN3 NDUFAF6 NEFH CTSD PNKP VAMP1 HNRNPA1 SDHD AARS1 SLC46A1 NAGA SCN4A TRPV4 SDHAF2 ATXN3 CHST14 SURF1 CYTB DDHD1 NTRK1 MYMK ALG2 GDF6 FTSJ1 SMN2 TGFBR3 POLR3A BSCL2 C19ORF12 EGR2 UPF3B TOP3A SURF1 HADHA KRAS VPS13D RAB3GAP2 TMEM127 FBN1 NIPBL NF2 NAGA ABCA1 GTF2H5 CHRNB1 SERPING1 BSCL2 TUBB3 LMOD3 COG8 PHYH CAV1 NOD2 PMP22 MATR3 PDCD10 COX1 PEX26 ND4 MYPN NEB SDHD FLNC HSD17B4 CXORF56 RRM2B KLHL41 CTDP1 ZFR SMARCB1 LMOD3 GDF3 ATXN3 SPEG EDNRB SDHC FH SEMA3E SERPINI1 SCN2A SAMHD1 MYO1H PEX6 SLC2A1 PIK3R5 NPAP1 CHD7 DNM2 GPR101 SPRED1 CHRND SMC3 MFN2 GTF2E2 RAPSN SUCLA2 CCND1 SQSTM1 ASXL1 NEB ACTA1 SEPTIN9 FBN1 COQ7 KIF1B AIP GJA1 CAPN1 NDUFAF5 ALS2 RNASEH1 ATP6 CYP27A1 PEX12 GJA1 MARS1 INS TNFRSF1A TWNK PEX13 UBAC2 EYA1 POLG CYP7B1 POLR3A DCTN1 MORC2 GAN MYH7 FGF3 ATP13A2 TTBK2 SPG21 RTN2 PRKCG ATN1 CCT5 BIN1 YME1L1 ACTA1 EPAS1 CDH23 COX6A1 PTDSS1 DOK7 CHN1 AMPD2 PDGFB KCNQ2 VHL GARS1 SNX10 SERPING1 ATL1 POMT2 MECP2 MOCS1 TRNK PEX2 HLA-DPA1 HERC2 SLC46A1 SCO2 SLC25A4 PRKAR1A TLR4 PRPS1 MPZ ND4L SOST RMND1 FKRP NLRP3 FAN1 NDUFAF4 SYNE1 MKRN3-AS1 TYROBP MSTO1 NOTCH2 ERCC5 CRYAB TWNK MATR3 CACNA1A TERT MPZ NEFL TTR MPZ PLXND1 ACADS FGD4 XPA KLHL41 FLI1 DEGS1 GJC2 APP CHCHD10 FBN1 USP27X EXT1 CA2 KBTBD13 DNASE1L3 SRPX2 UNC80 PIEZO2 DARS2 IL10 PEX6 ND1 PRX VCP RNF168 SH2B3 ATP13A2 IARS2 NEFH OSMR IGF2 PDK3 SLC29A3 SOX10 KIF1A TBK1 DNMT3A MYPN YARS1 SCYL1 VPS13A CHRNE ACER3 ASAH1 ATAD3A AGTR2 FRG1 POMT2 MPZ PTPN22 TWNK TRNW MKRN3 VAMP1 EDN3 LDB3 CRLF1 ATXN8 BIN1 C19ORF12 TMEM127 CLTCL1 SPG21 SAMD9L PDX1 SLC12A3 CYP27A1 KRAS TIMMDC1 CPLANE1 CTDP1 SPAST SPTLC2 APTX GDAP1 NDUFS3 DLG3 NDUFS4 LITAF CUBN KIF1B KLHL40 ARL6IP1 AIFM1 HMBS PEX14 PLEC MAFA C9ORF72 TMPRSS6 SLC5A7 DES AP1S1 CDKN1B MAX FA2H DEAF1 SETX KIF1B ND2 GDAP1 VCP TRNE GBA2 HADHA SCN9A TCIRG1 IFRD1 STUB1 AIP ACTA1 GMPPA GNA11 SPG11 LYST PRX DYNC1H1 FXN ANGPTL6 HSPB8 TNXB VCP TFG CDH23 PYROXD1 MUSK HPGD IDUA FLVCR1 USP9X KRIT1 POMT1 PHOX2B TPM3 TET2 KLHL41 AIFM1 VHL SH3TC2 AGRN PGM3 PUF60 PEX1 FDX2 LARGE1
Protein Mutations 0
SNP 0
HP:0009830: Peripheral neuropathy
Genes 899
KCNJ1 FMR1 PMP22 GNB4 REEP2 COMP DMXL2 EPCAM POLG NEFL SPTBN2 PNPLA6 MEFV MAG GABRG2 CD59 CTLA4 KCNJ11 NEFL SACS CRAT COASY SLC2A1 NDUFS7 WASHC5 EGR2 TYMP OPA3 GNA11 MTRR HLA-DRB1 CCR1 TRPV4 ND4 MLH3 MSH2 KCNQ3 MYD88 VPS13A KIF1A TWNK AP1B1 ERCC3 HLA-DQB1 GAN TTPA RPIA RNF113A RAI1 XRCC4 CHST14 BSCL2 HSPB1 GNAS UCHL1 REEP1 TRNW PHYH INSR ALDH18A1 ND4 KIF5A MAG TREX1 RAD21 C4A ALDH18A1 CYTB SCN8A ARSA MME GLA DSE ARSB LYST NDUFV1 PNKP RAI1 RFC1 RAB18 COA7 ALDH18A1 ARSA AP1S1 TBC1D20 WFS1 ABCC8 MPL OPA1 ABHD12 MTMR2 LDB3 SDHA DGUOK ATXN8OS ERCC4 AGPAT2 FAM126A ATAD3A JPH1 MICU1 MAGEL2 HSD3B7 MYH14 PMM2 ND5 FAS SNORD115-1 ZFYVE26 HNRNPA2B1 REEP1 MRE11 TGM1 DNMT1 PSAP AGRN POLG ERCC6 WIPF1 NF2 SELENOI PRKCG ATP7B AIFM1 PLD3 DGUOK KIF1A DEAF1 SPG7 PMP22 SLC25A19 SNRPN CYP2U1 GALC PDE4D PHF6 GCK ERCC2 PEX5 KLC2 WAS PEX11B DNMT1 ZFYVE26 C19ORF12 PIK3R5 IL23R ATP6 RFC1 ERCC3 ERAP1 GJC2 MCM3AP ATP13A2 DMPK ADAR DKK1 RETREG1 IFIH1 MSH6 WFS1 PMS1 ERCC2 POLG PMP22 SLC25A1 HBB HSPB1 GSN ND6 TBC1D24 RRM2B GALC PPOX HLA-B GARS1 POLG ND4L KCNK9 DDB2 ATXN7 CHAMP1 C11ORF95 HINT1 SLC2A1 NDUFA10 TRNL1 KCNC3 ABCA1 ND3 MPZ FUS SLC18A3 SPG7 CCT5 SLC12A1 SBF2 MTFMT SOX10 ND6 FA2H PWRN1 RPS20 KMT2A NOTCH3 KCNQ1OT1 AGXT NDUFAF3 NIPA1 MME NDUFA4 TIMM8A ND2 FBLN5 GJB1 PRKAR1A LYST AP5Z1 ERCC4 FLVCR1 PEX10 WASHC5 DNM1L AMACR PMM2 RTN2 TRNL1 HDAC8 FGF14 AIFM1 ALAD OSTM1 ABCC8 RAB3GAP1 SNAP29 KARS1 SH3TC2 TREX1 ABCC8 AMACR NDUFB8 GBA2 DHTKD1 GDAP1 NGLY1 PRICKLE1 PMS2 POLG BEAN1 TRNF ERCC5 HINT1 REEP1 NDUFA13 ERLIN2 SLCO2A1 RAI1 MYOT ERCC1 DMXL2 GNA14 DHH MSTO1 MANBA COX3 HARS1 ARSA ATP1A1 PPP2R2B IBA57 GCLC MYF6 MFN2 CBLIF ND1 SPG11 GALC DCAF8 ALDH18A1 SBF1 ND1 GARS1 PEX7 XRCC1 SPAST ABCD1 NAGA RAB7A TRIM2 COASY PDCD1 FIG4 OPA1 SLC12A6 GNAS TGFBR2 AFG3L2 SLC30A10 CLCF1 DAB1 H19 PEX6 FXN VPS37A SMPD1 MYH14 HADHA PLEKHG4 TPI1 ATXN8 PDYN DDHD1 ERCC5 SCN9A BIN1 POLG LIFR PMP22 MFN2 PTPN22 SEMA4A TWNK WDR48 POLG2 GCH1 GBA2 DGUOK TRNS2 TRPV4 CAPN1 CTLA4 GJB1 CYP7B1 ATXN3 GDAP1 SCN9A UBTF CACNA1G COA8 PIK3CA CAVIN1 SLC12A3 MYOT SIGMAR1 CPT1C RNF170 BSCL2 PDK3 PMP22 TACO1 FAH ADAT3 B4GALNT1 TTR HFE SAR1B ERCC6 HARS1 BMPR1A KLC2 ERCC3 VCP POLR3B HADHB CHCHD10 ZFHX2 MEN1 NDUFV2 HSPD1 CLCNKB BRAF SLC30A10 GRIN2A ND2 SLC33A1 INS SURF1 STAT4 MPZ MPV17 TBCE RETREG1 PRPS1 ATP6 SLC52A2 SNAP29 SCP2 AAAS KIF1C ALS2 SCN9A BTNL2 GNPTAB EGR2 SPART IBA57 SPG11 SETX IDUA ERCC2 PDHA1 TBC1D24 MPL SLC25A15 DHH CALR CD28 CASR MLH1 MPC1 TBCE FLII SETD5 ATP6 SNORD116-1 PRPS1 SACS NDUFS2 ND4 CHAT FLRT1 HMBS ELOVL4 GPI ATL1 PPP2R2B VCP TRNK PMP22 PEX7 TBCD AFG3L2 CACNA1A ATP5F1E POLG IGHMBP2 MARS1 RNASEH2A HLA-DRB1 TRNV PSAP C12ORF65 ARL6IP1 ATXN1 KCNJ10 PSAP IARS2 C12ORF65 C12ORF65 TDP1 COL1A1 AARS1 SLC19A2 DNAJB2 TGFB1 GDAP1 GBE1 GNAS TRAPPC11 BAG3 DSTYK SETX GLE1 NDUFS1 DYNC1H1 LIPT1 TTR MPLKIP PDX1 SCN11A SUCLA2 PSAP CPOX JAK2 ND1 ATXN8OS KCNJ11 KLHL9 NOTCH3 PMP22 DNM2 PEX7 TPP1 NDUFS8 LRSAM1 IL12A-AS1 RELA PWAR1 ECHS1 PDYN TDP1 RRM2B CASR ATP6 THPO NGF STAT3 ADA2 MAPT MPZ NGF PNPT1 HADH SERPING1 PMP22 XPC HSPB3 AIFM1 PET100 AEBP1 KLRC4 ERCC8 NDUFAF2 SLC5A7 KIF1A WARS1 POLG TRNQ MORC2 MPV17 TP53 COX3 GCLC NDUFS2 MME ATXN3 SHANK3 SCO2 NDUFS2 HK1 CACNA1G SPG11 ELOVL5 POLG HK1 MYD88 COL13A1 B2M GBE1 ELOVL5 GJC2 COX3 MTHFR KIF1A FMR1 VCP PNPLA6 KIF5A NDN GCK LAMA2 ATXN1 APTX DYNC1H1 IQSEC2 PMP22 AR ATL3 AAAS DST FOXRED1 GALC NTRK1 SCN10A FOS CISD2 GRM1 MICU1 HFE RAI1 SYNE1 RNASEH2B JAK2 TBP HLA-DPB1 PRPS1 PRRT2 SCN11A TFG TRNS1 LMNA ND5 SMC1A PPARG TWNK SPTBN4 ARSA TRNH NAGS SLC19A3 HSPB1 NAGLU DARS2 MYO9A MED25 TFG SEPTIN9 IL12A AP5Z1 SLC52A2 GSN INPP5K C12ORF65 SIL1 TPP1 PRRT2 SGPL1 SCN10A SNAP25 BSCL2 NDUFA12 PLEKHG5 ALAD ND5 ATXN2 TXN2 SCN4A AR XK KCNJ11 SLC25A15 FUCA1 GRIA3 INF2 WNK1 SLC25A46 SPG7 SCYL1 PPOX PSAP CDKL5 COX1 MFN2 CLP1 CCND1 TYMP NDRG1 ND5 ARSI RYR1 PRTN3 IDUA ND6 HSPD1 TARS1 ELP1 PEX10 COX15 MTMR14 ATP7A STX16 AHCY MFF PNKP PLP1 NTRK1 CAV1 RNASEH2C TK2 TRNW ERCC2 SLC52A3 FGF14 NDUFA2 COX2 ASCC1 KCND3 GMPPA NIPA1 NGLY1 MFN2 ATL1 PDSS1 SLC5A7 DNAJC3 ATP6 IPW SAR1B SYT2 NDUFA9 HADHB GJB1 SLC25A4 ND6 PMP22 TNFRSF1B OPA1 DNAJC3 LIFR ACO2 NALCN SHANK3 TRIP4 NDUFAF6 CTSD PNKP VAMP1 HNRNPA1 AARS1 SLC46A1 NAGA SCN4A TRPV4 ATXN3 CHST14 SURF1 CYTB DDHD1 NTRK1 POLR3A BSCL2 C19ORF12 EGR2 TOP3A SURF1 HADHA KRAS VPS13D RAB3GAP2 FBN1 NIPBL NF2 NAGA ABCA1 GTF2H5 SERPING1 BSCL2 TUBB3 COG8 PHYH CAV1 MATR3 COX1 ND4 HSD17B4 RRM2B CTDP1 ZFR ATXN3 EDNRB SERPINI1 SCN2A SAMHD1 PEX6 SLC2A1 PIK3R5 NPAP1 DNM2 GPR101 SMC3 MFN2 GTF2E2 SEPTIN9 FBN1 COQ7 AIP CAPN1 NDUFAF5 ALS2 RNASEH1 ATP6 CYP27A1 PEX12 MARS1 INS TNFRSF1A TWNK UBAC2 POLG CYP7B1 POLR3A MORC2 GAN ATP13A2 TTBK2 RTN2 PRKCG ATN1 CCT5 COX6A1 AMPD2 KCNQ2 VHL GARS1 SERPING1 ATL1 TRNK HLA-DPA1 HERC2 SLC46A1 SCO2 TLR4 PRPS1 MPZ ND4L RMND1 NLRP3 FAN1 SYNE1 MKRN3-AS1 MSTO1 NOTCH2 ERCC5 TWNK MATR3 CACNA1A MPZ NEFL TTR MPZ FGD4 XPA FLI1 DEGS1 GJC2 APP CA2 DNASE1L3 SRPX2 UNC80 PIEZO2 DARS2 IL10 ND1 PRX RNF168 SH2B3 ATP13A2 IARS2 NEFH IGF2 PDK3 SOX10 KIF1A YARS1 SCYL1 VPS13A ACER3 ATAD3A MPZ PTPN22 TWNK TRNW MKRN3 VAMP1 LDB3 ATXN8 C19ORF12 CLTCL1 SPG21 SAMD9L PDX1 SLC12A3 CYP27A1 KRAS TIMMDC1 CTDP1 SPAST SPTLC2 APTX GDAP1 NDUFS3 NDUFS4 LITAF CUBN KIF1B ARL6IP1 AIFM1 HMBS TMPRSS6 AP1S1 DEAF1 SETX ND2 GDAP1 TRNE GBA2 HADHA SCN9A IFRD1 STUB1 GMPPA GNA11 SPG11 LYST PRX DYNC1H1 FXN HSPB8 TNXB TFG HPGD FLVCR1 TET2 AIFM1 SH3TC2 PGM3 PEX1 FDX2
Protein Mutations 0
SNP 0

HPO

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


HPO Nodes


HP:0000759: Abnormal peripheral nervous system morphology
Genes 1392
SGCD KCNJ1 TCIRG1 EDN3 CLCN4 NEB ELP1 TSC2 FMR1 PMP22 GNB4 REEP2 ARHGEF10 COMP DMXL2 EPCAM POLG NF1 NEFL SPTBN2 PNPLA6 ERCC3 MEFV MAG ADCY6 NEB GABRG2 CD59 CTLA4 KCNJ11 SOST NEFL SACS CRAT COASY TPI1 SLC2A1 NDUFS7 MAPT WASHC5 TK2 EGR2 SIX1 SLC52A3 TYMP SALL4 OPA3 CHD7 ARHGEF6 GNA11 MTRR HLA-DRB1 DNA2 CHMP2B CCR1 TRPV4 ND4 TPM2 MLH3 GFPT1 NEB MSH2 POLG2 KCNQ3 AGRN MYD88 AK9 MEGF10 VPS13A KIF1A TWNK COL3A1 SIGMAR1 COLQ ARX AP1B1 AKT1 ERCC3 HLA-DQB1 GAN TTPA HRAS RPIA RNF113A RAI1 TFAP2A SEMA3E XRCC4 CHST14 BSCL2 HSPB1 GNAS UCHL1 REEP1 TRNW PHYH INSR ALDH18A1 ND4 KIF5A MAG TREX1 RAD21 DAXX C4A NALCN ALDH18A1 CYTB TPM2 RPS6KA3 SCN8A LRP12 VRK1 ARSA SQSTM1 CLCN7 MME RET GLA DSE ARSB IGHMBP2 LYST NDUFV1 PNKP RAI1 RFC1 RAB18 COA7 ALDH18A1 SLC25A11 ARSA AP1S1 SLC18A3 TBC1D20 WFS1 ASCL1 ABCC8 GMPPB MPL OPA1 ABHD12 MTMR2 LDB3 SALL4 MTTP SOST SDHA DGUOK ATXN8OS SUFU ERCC4 AGPAT2 FAM126A COLQ ATAD3A JPH1 MICU1 HSD17B4 MAGEL2 ANKH HSD3B7 GNE MYH14 NF2 PMM2 UBQLN2 ND5 NF2 FAS SNORD115-1 ZFYVE26 HNRNPA2B1 HACE1 COCH REEP1 MRE11 TARDBP TGM1 DNMT1 SDHD PSAP TTC19 AGRN SNX10 POLG ERCC6 SPG11 SMO WIPF1 DLST NF2 SELENOI ACTA1 TK2 PRKCG ATP7B DLL4 AIFM1 PLD3 SUMF1 DGUOK KIF1A BAP1 SDHB ANKH DEAF1 SPG7 PMP22 SLC25A19 SNRPN CYP2U1 GALC CHRNB1 PDE4D PHF6 GCK ERCC2 SQSTM1 PEX5 KLC2 WAS PEX11B CLCN7 DNMT1 ZFYVE26 C19ORF12 PIK3R5 IL23R PLEKHM1 ATP6 SIX1 RFC1 ERCC3 ERAP1 MAFB GJC2 MCM3AP ATP13A2 APC DMPK ADAR PEX19 IQSEC2 DKK1 RETREG1 IFIH1 PLA2G6 MSH6 WFS1 CEP126 PMS1 ERCC2 POLG APC PMP22 COL6A1 SOST SLC25A1 HBB ZNF41 LRP5 MEN1 HSPB1 TPM3 DNAJB6 MDH2 GSN ND6 SDHAF2 TBC1D24 RRM2B RNF43 DNMT3A GALC PPOX HLA-B GARS1 POLG LMNB1 ND4L KCNK9 DDB2 ATXN7 FKRP FKTN CHAMP1 C11ORF95 SYP HINT1 SLC2A1 SDHB NDUFA10 TRNL1 KCNC3 ABCA1 ND3 MPZ MYPN TGFB1 FUS SLC18A3 SLC9A7 SPG7 CCT5 CHRND SMN1 SLC12A1 SBF2 MTFMT MEOX1 SOX10 ND6 FA2H PWRN1 RPS20 KMT2A SIGMAR1 NOTCH3 KCNQ1OT1 AGXT NDUFAF3 TREM2 NIPA1 MME NDUFA4 TIMM8A TNFRSF11A ACTA1 ND2 MAT1A FBLN5 GFPT1 GJB1 PRKAR1A LRP4 LYST AP5Z1 ERCC4 SLC25A11 FLVCR1 PEX10 WASHC5 DNM1L KIF1B AMACR PMM2 RTN2 FBXO38 CDKN2B TRNL1 MED12 HDAC8 FGF14 TUBB6 SDHC DCTN1 AIFM1 TRIM32 PLEC ALAD GMPPB OSTM1 ABCC8 COL13A1 RAB3GAP1 KLHL41 SNAP29 KARS1 SH3TC2 ACTA1 CHRNA1 CHCHD10 TREX1 VHL ABCC8 AMACR ATXN10 APC SDHB NDUFB8 VHL GBA2 DHTKD1 GDAP1 NGLY1 PRICKLE1 PMS2 SMN1 POLG SDHB BEAN1 UBTF TRNF ERCC5 HINT1 ATRX REEP1 NDUFA13 ERLIN2 SMN1 SLCO2A1 PHOX2B AMER1 SDHD VHL GCDH RAI1 HCFC1 FUS MYOT CDKN1B ERCC1 DMXL2 LZTR1 GNA14 DHH MSTO1 MANBA COX3 HARS1 ARSA ATP1A1 ANO5 PIK3CA PPP2R2B IBA57 GCLC MYF6 TNFRSF11A MFN2 CBLIF ND1 TPM3 SDHD SPG11 GALC DCAF8 GDNF ALDH18A1 SBF1 SDHC ND1 LRP5 LMNA GARS1 PEX7 XRCC1 PHOX2B SPAST ABCD1 PEX3 NAGA RAB7A PNPT1 BTNL2 RET MEN1 TRIM2 ADPRS COASY PDCD1 BDNF FIG4 OPA1 SLC12A6 NFASC LMNA GNAS PHOX2B MUSK TGFBR2 AFG3L2 SLC30A10 CLCF1 DAB1 H19 PEX6 GDNF FXN VPS37A SMPD1 MYH14 CNTNAP1 HADHA PLEKHG4 TPI1 CNKSR2 NF1 ATXN8 NEU1 PDYN TCIRG1 DDHD1 ERCC5 SCN9A BIN1 RYR1 POLG LIFR PMP22 MFN2 PTPN22 DMPK SEMA4A TWNK WDR48 POLG2 GCH1 GBA2 DGUOK SETX TRNS2 ASCL1 TRPV4 RYR1 CAPN1 CTLA4 GJB1 CYP7B1 ATXN3 ACTA1 TRAF7 GDAP1 SCN9A COL12A1 GCGR CDKN1A SDHD REV3L UBTF CHRNA1 CACNA1G COA8 MYH7 THSD1 PIK3CA CAVIN1 SLC12A3 MYOT SIGMAR1 CPT1C RNF170 ADSS1 REEP1 BSCL2 PTCHD1 ACSL4 PDK3 PMP22 TTN BAP1 TACO1 ANO5 FAH ADAT3 B4GALNT1 TTR IDUA VCP HFE SAR1B ERCC6 HARS1 BMPR1A KLC2 ERCC3 VCP POLR3B TBK1 HADHB CHCHD10 ZFHX2 MEN1 NDUFV2 TPM3 HSPD1 CLCNKB BRAF SPEG SLC30A10 ZNHIT3 GRIN2A COL6A2 ND2 SLC33A1 INS SURF1 MYH7 CHRNB1 STAT4 LMOD3 MPZ HOXB1 EXT2 MPV17 TBCE TPM2 RETREG1 PRPS1 ATP6 SLC52A2 SNAP29 ITGB4 KLHL40 DOK7 ALG13 KY SCP2 AAAS KIF1C ALS2 TPM3 SCN9A BTNL2 GNPTAB MPZ PAK3 SMARCB1 EGR2 SPART IBA57 SPG11 SDHB SDHA SETX IDUA ERCC2 C9ORF72 PDHA1 TBC1D24 MPL SLC25A15 DHH CALR CD28 CASR MLH1 MPC1 TBCE FLII SETD5 CHRND FRMPD4 GFPT1 ATP6 SMCHD1 SNORD116-1 ENG PRPS1 SACS NDUFS2 ND4 POMT1 CHAT TSC1 PEX10 FLRT1 HMBS ELOVL4 LARGE1 PRKAR1A GPI ATL1 PPP2R2B DMD VCP TRNK PMP22 PEX7 RET TBCD AFG3L2 CACNA1A ATP5F1E POLG IGHMBP2 MARS1 RNASEH2A SUMF1 CHRNE HLA-DRB1 TRNV PSAP RET MEN1 C12ORF65 ARL6IP1 CLCN7 ATXN1 KCNJ10 SMARCE1 PSAP IARS2 C12ORF65 TXN2 C12ORF65 TDP1 COL1A1 ALS2 AARS1 SLC19A2 DNAJB2 TGFB1 GDAP1 GBE1 UBA1 GNAS TBL1XR1 TRAPPC11 BAG3 ZNF81 DSTYK SETX BMS1 GLE1 SLC39A14 LRP4 NDUFS1 DYNC1H1 LIPT1 TTR MPLKIP PDX1 SCN11A SUCLA2 PRRX1 PSAP CPOX JAK2 ND1 NARS2 ATXN8OS PLEKHG5 KCNJ11 KLHL9 NOTCH3 LTBP3 PMP22 DNM2 PEX7 SIX5 TPP1 NDUFS8 LRSAM1 IL12A-AS1 RELA PWAR1 ECHS1 PDYN TDP1 RRM2B CASR ATP6 UGT1A1 PSEN1 PRPH THPO NGF STAT3 RAB39B ADA2 SDHC CHRND MAPT GDNF MPZ NGF PNPT1 C19ORF12 HADH DNM2 SERPING1 PMP22 CHRNA1 XPC HSPB3 AIFM1 RYR1 PET100 AEBP1 KLRC4 ERCC8 NDUFAF2 SLC5A7 TNFSF11 KIF1A WARS1 POLG PRNP TRNQ MORC2 MPV17 TP53 COX3 GCLC COL6A2 NDUFS2 MME ATXN3 IL1RAPL1 SHANK3 SCO2 NDUFS2 HK1 CACNA1G SCN4A SPG11 ELOVL5 CA2 POLG HK1 MYD88 COL13A1 MYMK B2M ZC4H2 NF1 TRPM7 GBE1 ELOVL5 NF1 OTX2 GJC2 PABPN1 FKRP COX3 SDHD CHRNE MTHFR COL6A3 GRN SDHA KIF1A FMR1 PEX1 VCP NOD2 MID2 PNPLA6 CRPPA KIF5A NDN GCK SELENON LAMA2 ATXN1 LRP5 APTX DYNC1H1 RYR1 LRPPRC IQSEC2 PMP22 COL4A1 TNFSF11 AR ATL3 AAAS SELENON DST COL13A1 FOXRED1 CCM2 GALC NTRK1 SCN10A FOS CISD2 GRM1 MICU1 NF1 TSPAN7 HFE CLCN7 RAI1 SYNE1 RNASEH2B CNTNAP1 PLEC JAK2 TBP HLA-DPB1 PRPS1 PRRT2 SCN11A TFG TRNS1 LMNA ND5 SMC1A SDHC PEX16 PPARG TWNK SPTBN4 ARSA CDKN2C SOST TRNH NAGS ALG14 PEX11B PEX6 SLC19A3 C9ORF72 HSPB1 NAGLU ALS2 DARS2 MYO9A MED25 TFG PEX5 SEPTIN9 IL12A AP5Z1 RET SLC52A2 GSN SDHB INPP5K C12ORF65 SIL1 DLST TPP1 PRRT2 PEX12 SGPL1 SCN10A SNAP25 MOCS2 BSCL2 IDUA DPAGT1 NDUFA12 PLEKHG5 ADA2 EYA1 ALAD ND5 ATXN2 TXN2 SCN4A TCIRG1 AR XK KCNJ11 SLC25A15 FUCA1 CHRNE TPM2 GRIA3 INF2 WNK1 SLC25A46 SPG7 MGME1 SCYL1 PPOX PSAP CDKL5 SIX1 CHKB SOD1 COX1 MFN2 CLP1 CCND1 CDKN1B TYMP NDRG1 ND5 ARSI SDHB LRP4 RYR1 PRTN3 IDUA EYA1 ND6 HSPD1 TARS1 ZNF711 ELP1 PEX10 COX15 MTMR14 ACTA1 RYR1 ATP7A STX16 RET AHCY DNM2 KIT MFF PNKP PLP1 GDI1 NTRK1 CAV1 RNASEH2C TK2 TTN TRNW ERCC2 SLC52A3 CFL2 FGF14 NDUFA2 COX2 ASCC1 RET KCND3 GMPPA NIPA1 NGLY1 MFN2 GNAQ ATL1 PDSS1 SLC5A7 DNAJC3 MPZ MAX ATP6 TPM2 IPW TMEM106B PMP2 SAR1B SYT2 NDUFA9 HADHB GJB1 LAMB2 SLC25A4 SLC25A21 TPRKB POMT1 CHRNA1 ND6 PMP22 CLCN7 MTM1 MTMR14 TNFRSF1B OPA1 AMER1 DNAJC3 LIFR ACO2 NALCN SHANK3 TRIP4 CAPN3 NDUFAF6 NEFH CTSD PNKP VAMP1 HNRNPA1 SDHD AARS1 SLC46A1 NAGA SCN4A TRPV4 SDHAF2 ATXN3 CHST14 SURF1 CYTB DDHD1 NTRK1 MYMK ALG2 GDF6 FTSJ1 SMN2 TGFBR3 POLR3A BSCL2 C19ORF12 EGR2 UPF3B TOP3A SURF1 HADHA KRAS VPS13D RAB3GAP2 TMEM127 FBN1 NIPBL NF2 NAGA ABCA1 GTF2H5 CHRNB1 SERPING1 BSCL2 TUBB3 LMOD3 COG8 PHYH CAV1 NOD2 PMP22 MATR3 PDCD10 COX1 PEX26 ND4 MYPN NEB SDHD FLNC HSD17B4 CXORF56 RRM2B KLHL41 CTDP1 ZFR SMARCB1 LMOD3 GDF3 ATXN3 SPEG EDNRB SDHC FH SEMA3E SERPINI1 SCN2A SAMHD1 MYO1H PEX6 SLC2A1 PIK3R5 NPAP1 CHD7 DNM2 GPR101 SPRED1 CHRND SMC3 MFN2 GTF2E2 RAPSN SUCLA2 CCND1 SQSTM1 ASXL1 NEB ACTA1 SEPTIN9 FBN1 COQ7 KIF1B AIP GJA1 CAPN1 NDUFAF5 ALS2 RNASEH1 ATP6 CYP27A1 PEX12 GJA1 MARS1 INS TNFRSF1A TWNK PEX13 UBAC2 EYA1 POLG CYP7B1 POLR3A DCTN1 MORC2 GAN MYH7 FGF3 ATP13A2 TTBK2 SPG21 RTN2 PRKCG ATN1 CCT5 BIN1 YME1L1 ACTA1 EPAS1 CDH23 COX6A1 PTDSS1 DOK7 CHN1 AMPD2 PDGFB KCNQ2 VHL GARS1 SNX10 SERPING1 ATL1 POMT2 MECP2 MOCS1 TRNK PEX2 HLA-DPA1 HERC2 SLC46A1 SCO2 SLC25A4 PRKAR1A TLR4 PRPS1 MPZ ND4L SOST RMND1 FKRP NLRP3 FAN1 NDUFAF4 SYNE1 MKRN3-AS1 TYROBP MSTO1 NOTCH2 ERCC5 CRYAB TWNK MATR3 CACNA1A TERT MPZ NEFL TTR MPZ PLXND1 ACADS FGD4 XPA KLHL41 FLI1 DEGS1 GJC2 APP CHCHD10 FBN1 USP27X EXT1 CA2 KBTBD13 DNASE1L3 SRPX2 UNC80 PIEZO2 DARS2 IL10 PEX6 ND1 PRX VCP RNF168 SH2B3 ATP13A2 IARS2 NEFH OSMR IGF2 PDK3 SLC29A3 SOX10 KIF1A TBK1 DNMT3A MYPN YARS1 SCYL1 VPS13A CHRNE ACER3 ASAH1 ATAD3A AGTR2 FRG1 POMT2 MPZ PTPN22 TWNK TRNW MKRN3 VAMP1 EDN3 LDB3 CRLF1 ATXN8 BIN1 C19ORF12 TMEM127 CLTCL1 SPG21 SAMD9L PDX1 SLC12A3 CYP27A1 KRAS TIMMDC1 CPLANE1 CTDP1 SPAST SPTLC2 APTX GDAP1 NDUFS3 DLG3 NDUFS4 LITAF CUBN KIF1B KLHL40 ARL6IP1 AIFM1 HMBS PEX14 PLEC MAFA C9ORF72 TMPRSS6 SLC5A7 DES AP1S1 CDKN1B MAX FA2H DEAF1 SETX KIF1B ND2 GDAP1 VCP TRNE GBA2 HADHA SCN9A TCIRG1 IFRD1 STUB1 AIP ACTA1 GMPPA GNA11 SPG11 LYST PRX DYNC1H1 FXN ANGPTL6 HSPB8 TNXB VCP TFG CDH23 PYROXD1 MUSK HPGD IDUA FLVCR1 USP9X KRIT1 POMT1 PHOX2B TPM3 TET2 KLHL41 AIFM1 VHL SH3TC2 AGRN PGM3 PUF60 PEX1 FDX2 LARGE1
Protein Mutations 0
SNP 0
HP:0009830: Peripheral neuropathy
Genes 899
KCNJ1 FMR1 PMP22 GNB4 REEP2 COMP DMXL2 EPCAM POLG NEFL SPTBN2 PNPLA6 MEFV MAG GABRG2 CD59 CTLA4 KCNJ11 NEFL SACS CRAT COASY SLC2A1 NDUFS7 WASHC5 EGR2 TYMP OPA3 GNA11 MTRR HLA-DRB1 CCR1 TRPV4 ND4 MLH3 MSH2 KCNQ3 MYD88 VPS13A KIF1A TWNK AP1B1 ERCC3 HLA-DQB1 GAN TTPA RPIA RNF113A RAI1 XRCC4 CHST14 BSCL2 HSPB1 GNAS UCHL1 REEP1 TRNW PHYH INSR ALDH18A1 ND4 KIF5A MAG TREX1 RAD21 C4A ALDH18A1 CYTB SCN8A ARSA MME GLA DSE ARSB LYST NDUFV1 PNKP RAI1 RFC1 RAB18 COA7 ALDH18A1 ARSA AP1S1 TBC1D20 WFS1 ABCC8 MPL OPA1 ABHD12 MTMR2 LDB3 SDHA DGUOK ATXN8OS ERCC4 AGPAT2 FAM126A ATAD3A JPH1 MICU1 MAGEL2 HSD3B7 MYH14 PMM2 ND5 FAS SNORD115-1 ZFYVE26 HNRNPA2B1 REEP1 MRE11 TGM1 DNMT1 PSAP AGRN POLG ERCC6 WIPF1 NF2 SELENOI PRKCG ATP7B AIFM1 PLD3 DGUOK KIF1A DEAF1 SPG7 PMP22 SLC25A19 SNRPN CYP2U1 GALC PDE4D PHF6 GCK ERCC2 PEX5 KLC2 WAS PEX11B DNMT1 ZFYVE26 C19ORF12 PIK3R5 IL23R ATP6 RFC1 ERCC3 ERAP1 GJC2 MCM3AP ATP13A2 DMPK ADAR DKK1 RETREG1 IFIH1 MSH6 WFS1 PMS1 ERCC2 POLG PMP22 SLC25A1 HBB HSPB1 GSN ND6 TBC1D24 RRM2B GALC PPOX HLA-B GARS1 POLG ND4L KCNK9 DDB2 ATXN7 CHAMP1 C11ORF95 HINT1 SLC2A1 NDUFA10 TRNL1 KCNC3 ABCA1 ND3 MPZ FUS SLC18A3 SPG7 CCT5 SLC12A1 SBF2 MTFMT SOX10 ND6 FA2H PWRN1 RPS20 KMT2A NOTCH3 KCNQ1OT1 AGXT NDUFAF3 NIPA1 MME NDUFA4 TIMM8A ND2 FBLN5 GJB1 PRKAR1A LYST AP5Z1 ERCC4 FLVCR1 PEX10 WASHC5 DNM1L AMACR PMM2 RTN2 TRNL1 HDAC8 FGF14 AIFM1 ALAD OSTM1 ABCC8 RAB3GAP1 SNAP29 KARS1 SH3TC2 TREX1 ABCC8 AMACR NDUFB8 GBA2 DHTKD1 GDAP1 NGLY1 PRICKLE1 PMS2 POLG BEAN1 TRNF ERCC5 HINT1 REEP1 NDUFA13 ERLIN2 SLCO2A1 RAI1 MYOT ERCC1 DMXL2 GNA14 DHH MSTO1 MANBA COX3 HARS1 ARSA ATP1A1 PPP2R2B IBA57 GCLC MYF6 MFN2 CBLIF ND1 SPG11 GALC DCAF8 ALDH18A1 SBF1 ND1 GARS1 PEX7 XRCC1 SPAST ABCD1 NAGA RAB7A TRIM2 COASY PDCD1 FIG4 OPA1 SLC12A6 GNAS TGFBR2 AFG3L2 SLC30A10 CLCF1 DAB1 H19 PEX6 FXN VPS37A SMPD1 MYH14 HADHA PLEKHG4 TPI1 ATXN8 PDYN DDHD1 ERCC5 SCN9A BIN1 POLG LIFR PMP22 MFN2 PTPN22 SEMA4A TWNK WDR48 POLG2 GCH1 GBA2 DGUOK TRNS2 TRPV4 CAPN1 CTLA4 GJB1 CYP7B1 ATXN3 GDAP1 SCN9A UBTF CACNA1G COA8 PIK3CA CAVIN1 SLC12A3 MYOT SIGMAR1 CPT1C RNF170 BSCL2 PDK3 PMP22 TACO1 FAH ADAT3 B4GALNT1 TTR HFE SAR1B ERCC6 HARS1 BMPR1A KLC2 ERCC3 VCP POLR3B HADHB CHCHD10 ZFHX2 MEN1 NDUFV2 HSPD1 CLCNKB BRAF SLC30A10 GRIN2A ND2 SLC33A1 INS SURF1 STAT4 MPZ MPV17 TBCE RETREG1 PRPS1 ATP6 SLC52A2 SNAP29 SCP2 AAAS KIF1C ALS2 SCN9A BTNL2 GNPTAB EGR2 SPART IBA57 SPG11 SETX IDUA ERCC2 PDHA1 TBC1D24 MPL SLC25A15 DHH CALR CD28 CASR MLH1 MPC1 TBCE FLII SETD5 ATP6 SNORD116-1 PRPS1 SACS NDUFS2 ND4 CHAT FLRT1 HMBS ELOVL4 GPI ATL1 PPP2R2B VCP TRNK PMP22 PEX7 TBCD AFG3L2 CACNA1A ATP5F1E POLG IGHMBP2 MARS1 RNASEH2A HLA-DRB1 TRNV PSAP C12ORF65 ARL6IP1 ATXN1 KCNJ10 PSAP IARS2 C12ORF65 C12ORF65 TDP1 COL1A1 AARS1 SLC19A2 DNAJB2 TGFB1 GDAP1 GBE1 GNAS TRAPPC11 BAG3 DSTYK SETX GLE1 NDUFS1 DYNC1H1 LIPT1 TTR MPLKIP PDX1 SCN11A SUCLA2 PSAP CPOX JAK2 ND1 ATXN8OS KCNJ11 KLHL9 NOTCH3 PMP22 DNM2 PEX7 TPP1 NDUFS8 LRSAM1 IL12A-AS1 RELA PWAR1 ECHS1 PDYN TDP1 RRM2B CASR ATP6 THPO NGF STAT3 ADA2 MAPT MPZ NGF PNPT1 HADH SERPING1 PMP22 XPC HSPB3 AIFM1 PET100 AEBP1 KLRC4 ERCC8 NDUFAF2 SLC5A7 KIF1A WARS1 POLG TRNQ MORC2 MPV17 TP53 COX3 GCLC NDUFS2 MME ATXN3 SHANK3 SCO2 NDUFS2 HK1 CACNA1G SPG11 ELOVL5 POLG HK1 MYD88 COL13A1 B2M GBE1 ELOVL5 GJC2 COX3 MTHFR KIF1A FMR1 VCP PNPLA6 KIF5A NDN GCK LAMA2 ATXN1 APTX DYNC1H1 IQSEC2 PMP22 AR ATL3 AAAS DST FOXRED1 GALC NTRK1 SCN10A FOS CISD2 GRM1 MICU1 HFE RAI1 SYNE1 RNASEH2B JAK2 TBP HLA-DPB1 PRPS1 PRRT2 SCN11A TFG TRNS1 LMNA ND5 SMC1A PPARG TWNK SPTBN4 ARSA TRNH NAGS SLC19A3 HSPB1 NAGLU DARS2 MYO9A MED25 TFG SEPTIN9 IL12A AP5Z1 SLC52A2 GSN INPP5K C12ORF65 SIL1 TPP1 PRRT2 SGPL1 SCN10A SNAP25 BSCL2 NDUFA12 PLEKHG5 ALAD ND5 ATXN2 TXN2 SCN4A AR XK KCNJ11 SLC25A15 FUCA1 GRIA3 INF2 WNK1 SLC25A46 SPG7 SCYL1 PPOX PSAP CDKL5 COX1 MFN2 CLP1 CCND1 TYMP NDRG1 ND5 ARSI RYR1 PRTN3 IDUA ND6 HSPD1 TARS1 ELP1 PEX10 COX15 MTMR14 ATP7A STX16 AHCY MFF PNKP PLP1 NTRK1 CAV1 RNASEH2C TK2 TRNW ERCC2 SLC52A3 FGF14 NDUFA2 COX2 ASCC1 KCND3 GMPPA NIPA1 NGLY1 MFN2 ATL1 PDSS1 SLC5A7 DNAJC3 ATP6 IPW SAR1B SYT2 NDUFA9 HADHB GJB1 SLC25A4 ND6 PMP22 TNFRSF1B OPA1 DNAJC3 LIFR ACO2 NALCN SHANK3 TRIP4 NDUFAF6 CTSD PNKP VAMP1 HNRNPA1 AARS1 SLC46A1 NAGA SCN4A TRPV4 ATXN3 CHST14 SURF1 CYTB DDHD1 NTRK1 POLR3A BSCL2 C19ORF12 EGR2 TOP3A SURF1 HADHA KRAS VPS13D RAB3GAP2 FBN1 NIPBL NF2 NAGA ABCA1 GTF2H5 SERPING1 BSCL2 TUBB3 COG8 PHYH CAV1 MATR3 COX1 ND4 HSD17B4 RRM2B CTDP1 ZFR ATXN3 EDNRB SERPINI1 SCN2A SAMHD1 PEX6 SLC2A1 PIK3R5 NPAP1 DNM2 GPR101 SMC3 MFN2 GTF2E2 SEPTIN9 FBN1 COQ7 AIP CAPN1 NDUFAF5 ALS2 RNASEH1 ATP6 CYP27A1 PEX12 MARS1 INS TNFRSF1A TWNK UBAC2 POLG CYP7B1 POLR3A MORC2 GAN ATP13A2 TTBK2 RTN2 PRKCG ATN1 CCT5 COX6A1 AMPD2 KCNQ2 VHL GARS1 SERPING1 ATL1 TRNK HLA-DPA1 HERC2 SLC46A1 SCO2 TLR4 PRPS1 MPZ ND4L RMND1 NLRP3 FAN1 SYNE1 MKRN3-AS1 MSTO1 NOTCH2 ERCC5 TWNK MATR3 CACNA1A MPZ NEFL TTR MPZ FGD4 XPA FLI1 DEGS1 GJC2 APP CA2 DNASE1L3 SRPX2 UNC80 PIEZO2 DARS2 IL10 ND1 PRX RNF168 SH2B3 ATP13A2 IARS2 NEFH IGF2 PDK3 SOX10 KIF1A YARS1 SCYL1 VPS13A ACER3 ATAD3A MPZ PTPN22 TWNK TRNW MKRN3 VAMP1 LDB3 ATXN8 C19ORF12 CLTCL1 SPG21 SAMD9L PDX1 SLC12A3 CYP27A1 KRAS TIMMDC1 CTDP1 SPAST SPTLC2 APTX GDAP1 NDUFS3 NDUFS4 LITAF CUBN KIF1B ARL6IP1 AIFM1 HMBS TMPRSS6 AP1S1 DEAF1 SETX ND2 GDAP1 TRNE GBA2 HADHA SCN9A IFRD1 STUB1 GMPPA GNA11 SPG11 LYST PRX DYNC1H1 FXN HSPB8 TNXB TFG HPGD FLVCR1 TET2 AIFM1 SH3TC2 PGM3 PEX1 FDX2
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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