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Report for Clinical Trial NCT02455362

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

A Multi-site, Double-blind, Parallel Arm, Block Randomised, Placebo Controlled, Factorial Phase III Study of Opioids for Chronic Refractory Breathlessness in People With Chronic Obstructive Pulmonary Disease.

Breathlessness, the sensation of breathing discomfort, is a major problem in people with chronic obstructive pulmonary disease (COPD). Breathlessness that persists despite optimal management of the underlying disease(s) is said to be refractory. Preliminary evidence suggests that a small, regular dose of morphine helps to reduce safely the sensation of breathlessness. However, this research on morphine for breathlessness has not defined the best way to adjust the dose of the medication, or refined which people are most likely to have benefit, no response or side effects. This is a randomized, double-blind phase III trial in people with COPD and significant refractory breathlessness, which will explore several important questions: - Are regular, low dose opioids (morphine) at four possible doses over 3 weeks more effective than placebo medication (containing no active ingredient) at improving breathlessness? - Does the medication have any effect on daily activity, breathlessness, and quality of life? - What are the common side effects of this intervention? - Does the benefit from the drug outweigh the side effects it produces? - Are there specific characteristics of people who are more likely to receive benefit from sustained release morphine? Participants will be allocated to receive three weeks of morphine sulfate (and laxative, docusate with senna), or placebo (and placebo laxative). The dose of morphine may be increased each week for weeks two and three. All medicines will appear the same (blinded) and neither the doctor nor the participant will know which medication the participant is receiving. Participants will have a medical interview, physical examination to collect some general health information, and baseline measurements including; daily activity, symptoms, and quality of life. A small amount of blood may be required to check eligibility. Further blood samples may be taken at week 1 and 3 to enable testing on how individuals respond to opioids, further consent will be obtained for these samples. Data on benefits, side effects, and medical care will be collected during comprehensive weekly visits. Participants will also fill out a simple diary twice daily for weeks one to three of the study, and for one day each week during an optional 3 month extension stage. The outcome of this study may enable better management of symptoms and activity in people COPD with medicines that are shown to be effective and safe.

NCT02455362 Chronic Obstructive Pulmonary Disease Dyspnea
MeSH:Lung Diseases Lung Diseases, Obstructive Pulmonary Disease, Chronic Obstructive Dyspnea
HPO:Abnormal lung morphology Chronic obstructive pulmonary disease Dyspnea Obstructive lung disease Respiratory distress

2 Interventions

Name: Morphine sulfate

Description: Treatment with sustained-release morphine sulfate is given as one double-blind capsule in the morning.
Type: Drug
Group Labels: 11

Morphine sulfate (0, 0, 8 mg) Morphine sulfate (0, 8, 16 mg) Morphine sulfate (0, 8, 8 mg) Morphine sulfate (16, 16, 16 mg) Morphine sulfate (16, 16, 24 mg) Morphine sulfate (16, 24, 24 mg) Morphine sulfate (16, 24, 32 mg) Morphine sulfate (8, 16, 16 mg) Morphine sulfate (8, 16, 24 mg) Morphine sulfate (8, 8, 16 mg) Morphine sulfate (8, 8, 8 mg)

Name: Placebo

Type: Drug
Group Labels: 1

Placebo


Primary Outcomes

Description: Rated on a 0-10 numerical rating scale (NRS) in a diary each evening. The primary endpoint is the difference between placebo, morphine sulfate 8 mg, or 16 mg after the first treatment week.

Measure: Change from baseline intensity of breathlessness over the previous 24 hours

Time: Week 1

Secondary Outcomes

Description: Rated on a 0-10 numerical rating scale (NRS) in a diary each evening.

Measure: Change from baseline unpleasantness of breathlessness over the previous 24 hours

Time: Week 3

Description: Rated on a 0-10 numerical rating scale (NRS) in a diary each morning.

Measure: Change from baseline intensity of breathlessness "right now"

Time: Week 3

Description: In addition to the NRS ratings, the intensity of breathlessness is rated on a 0-10 modified Borg scale in a evening diary.

Measure: Change from baseline in the intensity of breathlessness

Time: Week 1

Description: Collected in a diary in the evening, including of any rescue medication used.

Measure: Current medication use and compliance

Time: At study end for up to 15 weeks.

Description: Collected in a diary in the evening.

Measure: Number of participants with adverse events

Time: At study end for up to 15 weeks.

Description: Measured during two days at baseline and during at least five days of treatment week three.

Measure: Change from baseline physical activity using an accelerometer

Time: Week 3

Description: Measured using the revised Edmonton Symptoms Assessment Scale (ESAS-r).

Measure: Change from baseline in concurrent symptoms

Time: Week 1

Description: Measures the functional impact of breathlessness.

Measure: The modified Medical Research Council (mMRC) breathlessness scale

Time: At study end for up to 15 weeks.

Description: To explore whether longer term morphine treatment is associated with decreased levels of testosterone.

Measure: Change from baseline serum testosterone level

Time: At the end of the 3 month follow-up stage, after up to 15 weeks.

Description: From the baseline sample, the UGT2B7*2 and *28 polymorphisms, P-glycoprotein (ABCB1 5SNPs in a haplotype block), the 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572, and mu opioid receptor (A118G) polymorphisms will be measured. Interleukin 1ß, TNFalpha and Il-6 will be measured at baseline and at the end of the first treatment week.

Measure: Change from baseline pharmacogenomic opioid blood profile

Time: Week 1

Description: In a subset of 55 participants, blood parameters for morphine and its metabolites will be analysed (4 blood samples over 8 hours) at steady state of the treatment at the end of the week 1.

Measure: Pharmacodynamic/-kinetic blood samples

Time: Week 1

Description: Exhaled gas measured using a non-invasive capnometer.

Measure: Change from baseline end-tidal carbon dioxide

Time: Week 3

Description: Non-invasive measurement of the oxygen saturation, respiratory rate, and heart rate.

Measure: Change from baseline pulse oximetry

Time: Week 3

Description: Twenty (20) participants at the Sydney and Adelaide sites will be invited to undertake a simple, non-invasive home sleep study using the ResMed ApneaLink Plus device.

Measure: Change from baseline sleep quality

Time: The final night of week 3

Description: Rated on a 4 point Likert scale in a morning diary.

Measure: Change from baseline sleep quality

Time: During the study for up to 15 weeks.

Description: The questionnaires used are the Epworth Sleepiness Scale, Leeds Sleep Questionnaire, and the Karolinska Sleepiness Scale.

Measure: Change from baseline sleep quality and sleep-related problems

Time: Week 3

Description: Measure of the bowel function, during treatment with placebo / morphine sulfate 8 or 16 mg.

Measure: Change from baseline bowel function index

Time: Week 1

Description: Measured on the CRQ-SAS Dyspnoea sub-scale.

Measure: Change from baseline breathlessness-related quality of life

Time: Week 3

Description: Measured using the EQ-5D questionnaire.

Measure: Change from baseline health-related quality of life

Time: During the study for up to 15 weeks.

Description: Life-Space is a measure of where a person goes, the frequency of going there, and the dependency in getting there.

Measure: Change from baseline Life-space

Time: During the study for up to 15 weeks.

Description: A score of 0 to 100 (in increments of 10) is assigned to participants based on their ability to undertake a range of daily tasks. The score gives an indication of the participant condition in terms of physical ability.

Measure: Change from baseline Australian Karnofsky Performance Status

Time: During the study for up to 15 weeks.

Description: A 14-item questionnaire used to measure anxiety and/or depression.

Measure: Change from baseline Hospital Anxiety and Depression Scale

Time: Week 3

Description: Participant-rated seven point scale of the perception of their change, specifically their improvement since the commencement of the study.

Measure: Global Impression of Change

Time: During the study for up to 15 weeks.

Description: Participants will be asked for their preference to continue at study exit ('Is this a therapy which, on balance, you would continue to take for your breathlessness?')

Measure: Blinded patient preference to continue treatment

Time: At study end after up to 15 weeks.

Description: Data on all health care contacts including lenght of hospitalizations, emergency department visits, DRG codes, outpatient visits to general practitioner and community nurse, and date of death.

Measure: Health economy composite

Time: During the study for up to 15 weeks.

Purpose: Treatment

Allocation: Randomized

Factorial Assignment


There is one SNP

SNPs


1 A118G

From the baseline sample, the UGT2B7*2 and *28 polymorphisms, P-glycoprotein (ABCB1 5SNPs in a haplotype block), the 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572, and mu opioid receptor (A118G) polymorphisms will be measured. --- A118G ---



HPO Nodes


HPO:
HP:0002088: Abnormal lung morphology
Genes 1217
GATA6 COL13A1 DNAI1 EPG5 CSPP1 ABCA12 IL2RG PORCN TGFB2 COL1A1 SOX11 IL17RC PEX1 SLC12A6 CSF2RA TCF4 NAA10 TCTN3 INSR GAS8 TTC37 SERPINF2 BRAF DOCK6 RBPJ NOD2 CLEC7A PSAP VPS33A CTRC ATM TGFB1 BCL10 BAP1 CCDC39 STN1 CD8A OCRL DNAH11 CHD7 TINF2 FOXP3 ERCC6 RANBP2 CR2 C11ORF95 PIEZO2 LACC1 DSE SETBP1 ZMPSTE24 CD3D MALT1 ADGRG6 PLP1 TINF2 SPAG1 TAP2 AGA ERAP1 IL7R CFI RUNX2 LAT DNAAF4 MAP3K8 IL17RA CHST14 ADA DNASE1L3 DNAI2 DNAH5 FOXP1 TBX1 PIEZO1 DNAH1 NKX2-5 ELP1 DCLRE1C MTHFD1 LOX TSC2 FGFR3 SOS1 IRF8 CHAMP1 EFEMP2 WDR35 CCDC39 PIK3CD HABP2 SDCCAG8 PRKN CD81 TNFSF12 ARMC4 NCF2 SMN1 RMRP TBC1D23 CHRNA1 DSG1 GDF1 NKX2-1 POLR3H SMPD1 WDR60 ATP5F1A UBE2A GLE1 COL2A1 FLCN EIF2AK4 ACTA1 RPL10 IPW MYO5A MEFV NHP2 RYR1 PIGN DGCR2 NFKB1 CCBE1 DNAH11 FCGR2B SLC26A2 FBLN5 RAG1 SOX4 PTEN PTPN11 ARMC4 DCLRE1C PSAT1 STAT3 SERPINF2 STAT3 STAT3 PARN SEC24C TSC1 RAB3GAP2 GLI3 C1R GBA ALB ADAMTS3 PIGN UMPS HLA-DRB1 LEPR SLCO2A1 BLM ACVRL1 THOC2 MMP21 CARD11 CFTR USP9X DNMT3B COL6A1 TNFSF11 FAM20C RYR1 PPP2R1B PEPD HLA-DPA1 MUSK LMNA GATA6 FBLN5 LMOD3 DIS3L2 SNORD115-1 SCNN1G GNPTAB COL5A2 KIAA0319L CXCR4 IDUA CCR6 BMP2 SNX10 MED25 CFAP410 BCOR LTBP4 STRA6 TERT EDARADD POLE FOXF1 STAT1 LIPN DRC1 VPS13A NFKB1 STK36 PTPN11 CCDC22 SLC1A4 SULT2B1 PPP1CB TAP1 IFT80 CFAP298 ZBTB24 GATA4 PIK3R1 DNAH5 GLI1 TGFB3 HPS1 DNASE1 WDR19 CEP55 ELN SMPD1 ICOS DCTN4 NUMA1 DKC1 LIG4 SMAD4 FBLN5 ACADVL PRPS1 BCL6 GPC3 AGRN RIPK1 FMO3 SNAP25 CSF2RA MUSK MAGEL2 HGSNAT STAT5B DNAAF5 GBA TTC25 CEP57 RAB27A FGF20 SLC2A10 PMM2 DGCR6 RREB1 ASAH1 CCR6 LFNG SLC35A1 IKBKB PGM3 CCDC40 BICC1 EPHB4 PEPD NSDHL MCM4 COG4 SPINK5 HLA-DRB1 WRN BMP15 KCNJ6 GP1BB GLI3 STING1 GPC3 NABP1 RARB ARHGAP31 MAPK1 ERBB2 B2M POLA1 NBN KRAS CYBC1 CFB STAT3 SP110 MCIDAS PRTN3 EOGT IL2RB MEFV MKKS PIGL ATM TERT HOXD13 ENG CHAT DICER1 DGCR8 PKD1L1 MIF FRAS1 DNAJB13 TERT ZMYND10 MKRN3-AS1 TPM2 CD247 SCNN1A COL3A1 TRAF3IP2 SMPD1 MITF RSPH4A FLI1 COLQ LETM1 NFE2L2 ITCH LPIN2 TBCE VAMP1 TPP2 PIK3CA ZBTB24 ZAP70 CD3G CASP8 NR2F2 H19 OSTM1 COPA MESP2 PKHD1 BNC1 PRKAR1A CTCF RBM10 GLI3 GAA PRKAG2 SLC46A1 CHRM3 MYSM1 DNAI2 SLC29A3 CD3E SPAG1 RELA COL11A2 PML TNFRSF13C RSPH3 SCNN1G SFTPA2 SH3KBP1 CD79B SRP54 SMAD3 WNT4 LMNA CHRNG EPG5 KITLG BACH2 UBB SPIDR MAP3K20 FUZ GREB1L GATA6 TERT GSN KIF11 DHCR24 RFX5 IKBKB LEPR KEAP1 TERC EDNRB CRTAP BCL2 TRPS1 STAT6 SLC35A1 TERC CHRNG INVS COG6 CASP8 CARD11 DNAAF4 RRAS CLIP2 USB1 PYROXD1 FSHR PARN LYST RPL10 WDR60 RFXAP TCF3 PSMC3IP MECP2 IGH CTSC HLA-B TAPBP NOTCH2 GRIP1 GNS DLL3 CEP120 CBL SCNN1B GTF2E2 PARN GPKOW ATP11A TMEM260 TNFRSF13C CEP120 IL21R RFXANK CAV1 TBC1D24 SLC25A24 UBAC2 DHCR7 SGSH GATA4 PNP NFIX USB1 TSC2 TRIP13 IDUA IL23R RFXAP ADA RAG2 DRC1 ADNP NGLY1 WDR60 FLNA POU6F2 BCOR IL2RG NCF1 ROR2 SCN9A SCNN1A TGFB2 NSD2 INTU GTF2H5 SON MYH11 TARS1 LIFR BRAF RET OFD1 ARHGAP31 NOTCH2 SOX18 CTLA4 HELLS ZMYND10 NDN EFEMP2 ALOXE3 NFKBIA PLEC SFTPC TRIP13 MPLKIP RAG1 MYLK IGH USP9X PIGN XIAP NXN TBX5 RASGRP1 NHLRC2 ITGA8 ACTA1 DLL4 ATP6V1E1 TNFRSF11A DSP PCNT CD79B HLA-B GTF2I SMARCD2 EMG1 IL2RA PTPN22 IRF5 BGN ARID1B RSPH9 SAMD9 GUSB BTNL2 TNFRSF13B CYBA DKC1 KIAA0556 ALG12 PTH1R SLC26A2 GPR35 NUP107 HPS4 TBX1 CR2 TRPV4 KRAS PRKCD SLC11A1 EGFR NSMCE3 PLG UNG SGCG RAPSN DNAAF6 RPS15A APOE LYST ACTA2 SNRPN MESP2 TCIRG1 TBC1D24 TIMM8A RAG2 MUC5B IL17F NPAP1 HYDIN SERPINA1 IRF5 FAS CIITA KPTN CACNA1C PEX13 PLCG2 GATA6 COL6A2 DICER1 CTC1 LRRC6 SFTPB FADD TTC7A RNF168 FARSB HYLS1 NPHP3 IFNGR1 GAS8 CFTR SLC34A2 FLCN ALG9 AGTR1 WDR19 TRPV3 IGLL1 CRKL TMEM94 SLC26A2 CLPB FREM2 MYOD1 WDR34 SCNN1B CCN2 PRSS1 TBX6 TSC1 KLHL40 DDR2 CCDC103 MEFV PDGFRA IL2RG NCF4 WT1 RYR1 CACNA1B DYNC2H1 POLR3A DNAAF2 TRAIP CLCA4 JAK3 OFD1 IGHM NECTIN1 IER3IP1 TNFRSF1B DCLRE1C LGI4 BCR NOTCH3 SCARB2 EVC2 IL12A LRRC56 WT1 FASLG RSPO2 PWRN1 HSPG2 RAG2 BUB1 NKX2-1 ESS2 RNU4ATAC IRAK1 ELN MST1 HYDIN SLC2A10 RAF1 TGFBR2 IL12A-AS1 MRPS22 IRAK4 MYH7 DNAH9 NELFA TNFSF12 MYH3 GPC4 SMAD4 TINF2 GRHL3 DOK7 POLA1 ATP6V0A2 TRIM28 LCK DNAI1 SMARCA4 ORC6 CSPP1 MASP2 AKT1 BMPR2 SLC5A7 RSPH3 NAB2 CRELD1 TGFBR2 NIPAL4 LZTR1 G6PC3 CCNO DVL3 FAM13A SFTPC SLC52A3 UFD1 NHP2 EPM2A SCNN1A KIAA0586 MYSM1 RIT1 UNC119 CCDC65 RAG1 ARID2 LRBA FLNB B3GLCT FGFR1 CDCA7 GDF1 FLNA DCLRE1C DHCR24 RAG1 TPM3 SERPINH1 BRCA2 HELLPAR NFKB2 FBN1 NOP10 SFTPA2 FGFR3 JMJD1C RAF1 CD46 RAG2 FAT4 MBTPS2 FCGR2A PHGDH SNORD116-1 WAS SLC18A3 CFTR KDM6A TGFBR1 ICOS SLC25A22 RPGR HLA-DRB1 NCF1 ARSB MKS1 NME8 CITED2 EWSR1 ALMS1 HES7 TSC1 INHBA CR2 IRF1 GRIP1 NEB GFI1 SERPINA1 ARID1A TAF1 NPHP3 HACD1 RNF125 EVC LAMTOR2 SMARCB1 NEK1 CCND1 VHL GLA IDUA CDC42 TERT LAMB2 WDR34 CCDC151 CYP2A6 FOXE1 LEP TECPR2 RSPH4A SPECC1L BIRC3 DYNC2H1 ABL1 PRKDC GLB1 IRF2BP2 TYK2 TCIRG1 STAT4 LRRC56 CFTR TNFRSF13B FRAS1 CORO1A STK11 DNAAF6 IL1RN NRAS PHGDH FCGR3A ASCC1 BTK GMNN ETFA ABCA12 RAC1 COMT NAA10 ACP5 FBN1 RNF168 CD19 GBA LAMA2 NAA10 NFKB2 WAS NFKB2 AK2 MGP SOX10 PTEN GBA RNF113A DNAJB13 FAT4 BLM INPPL1 TNFRSF1A FADD RPGR DNAL1 CFAP298 GATA2 NUP88 BTK REST ZBTB16 FUCA1 DNAAF1 CSF2RB AGGF1 RAG1 ZMPSTE24 GAS2L2 FANCB PTPN22 INPPL1 ALPL MGP HPGD C1QA ELN SLC25A1 DNAAF3 RAG2 TGFB1 FCN3 CAV1 RSPH9 CYBB FANCB BUB3 FLCN GPC6 SMARCE1 ELN COL6A3 DYNC2LI1 AICDA CCN2 ELANE MEFV TERC CCR1 PAX3 CCDC103 ERCC2 KAT6B TRIP11 HLA-DRB1 ITGA8 FASLG KRAS PAX6 CD3E CD19 SMARCC2 WASHC5 TAPT1 SLC18A3 HLA-DRB1 WRAP53 CEP57 MANBA DNAAF5 RFC2 SMAD3 ERCC3 WNT4 CD3D WIPF1 MS4A1 TERC BCL11B CFTR TGFB1 SHROOM4 BLNK CCNQ IL7R MYL2 RHOH CTLA4 RARA RARB RIPK4 CCDC40 EP300 NEK9 IFIH1 SOX18 FLCN SCN10A KIF1A GNPTAB CRELD1 SCNN1B JAK3 IFT140 DOCK8 MBTPS2 ZFPM2 SPINK1 HLA-DRB1 PRKCD ACTA1 NGLY1 MARS1 FOXE3 CCNO FOXC2 RSPH1 KLRC4 PIGT NPM1 SAMD9L MYBPC3 LAMTOR2 ELN TK2 GUSB CARMIL2 ETFDH NRAS LRRC8A ARID1B SELENON LIMK1 FSHR FIP1L1 TBL2 RIT1 ACE RELB SDR9C7 NADK2 PERP SFTPC CHRND AARS2 SLC22A18 ITPR1 TBL1XR1 IL2RG CDC45 ALDH18A1 ICOS STRA6 FCGR2A MARS1 AFF4 KIAA0586 WNT3 IL7R RASA2 RTEL1 HPS6 HERC2 DONSON ERF TP53 IL17RA SCNN1G CLCN7 SCN11A SFTPB WT1 HIRA DPM2 NCF2 TP53 AFF4 EXOSC9 CCBE1 TRIP4 MYH3 NEK8 ELANE NME8 SLC35C1 DNAAF1 DPF2 KMT2D RIPPLY2 CD79A WT1 CCDC114 NBN BLNK TIRAP PCGF2 AGT COL2A1 PLVAP FAS ADAMTS2 DHCR7 DNAAF2 BMPER BUB1B IFT172 RSPH1 CTLA4 HLA-DPB1 CD81 PGM3 NOTCH1 ELN ADA EGFR RLIM NCF4 RB1 STAT1 FLNB CCDC114 CFI RFXANK RSPO2 MSN C4A TNFRSF13B COQ7 MINPP1 PTPN22 CD28 CIITA GALNS NR5A1 DPP9 CC2D2A DNMT3B TTC21B ITGA3 BMPR2 CFAP300 STX1A EHMT1 ITGA7 MFAP5 BTK MYO9A TTC25 SPEF2 TNFRSF13C MKRN3 MAT2A SKIV2L ZNHIT3 SOS2 SFTPA1 CXCR4 PIK3R1 RRAS2 RTEL1 RTEL1 COL3A1 CHST14 TSC1 TRIP11 CD55 FOXJ1 SLC7A7 TBX1 CYTB TLR4 SLC26A2 CYP4F22 COG4 AP3D1 ITCH MCTP2 CD79A GAS2L2 IL10 GLDN NOTCH3 ALOX12B RAG1 ALMS1 RCBTB1 GBA TFRC TSC2 CASP10 NKX2-5 PNP DYNC2LI1 TRIM28 STAT4 ARVCF SH2D1A IL21 ZAP70 PDGFRB RNU4ATAC DNAAF3 P4HTM KLHL41 CCNQ AGA BCOR MYD88 COL5A1 ABCA3 JAG1 TREX1 IGLL1 GLE1 IFT81 LTBP3 ASAH1 NPM1 IKZF1 DICER1 SLC7A7 CYBA HFE CBL RFX5 MS4A1 WNT3 JAGN1 PUF60 ZEB2 NAGLU BTNL2 FAM111B CFAP221 MLXIPL HRAS COL13A1 WDR35 SIK1 TRIP4 PWAR1 ECM1 LMNA TGM1 COL11A2 IRAK4 PRKG1 SELENON FGF20 CD19 IKBKG TGFBR1 DLL3 ELP1 IFT80 BAZ1B CTLA4 REN CHRNG ABCA3 ZNF341 WDR34 EXTL3 KAT6B TERT XIAP MYRF SPP1 CSF2RB CYBB PIK3R1 CCND1 NOP10 MUC5B FBN1 PRSS2 PLOD1 SYT2 KAT6B IGHM PANK2 IFT43 MRAS FAS CFH PTPRC MESP2 FOXP1 FLNA TBCD LBR VPS33A SMN1 IL6 NIPBL LEP NHLRC1 CCDC151 DOCK8 LRRC6 GTF2IRD1 SNAI2 CREBBP AP3B1 ETFB VANGL1 LMNA PRKAR1A A2ML1 CDT1 CCDC65
HP:0002094: Dyspnea
Genes 456
IFT52 CCDC103 COL2A1 GATA6 KCNA1 SRP54 DNAAF2 TET2 TGFB2 CPT2 VCL OPTN RRM2B SCN4A EDN1 SPINK1 DISC1 VPS33A LRRC56 FOXF1 DPM1 STN1 GYG1 LAMC2 NKX2-1 DNAH11 FOXP3 TRPV6 CAV1 ORC1 SETBP1 IRAK1 PPARGC1A GBA HYDIN SLC2A10 SCN1B DNAH9 SQSTM1 CYB5R3 DNASE1L3 COX10 DNAH5 GNAS LRP4 TRNK PRRT2 MRPL3 DNAH1 ALDH7A1 DNAI1 ORC6 CSPP1 COL1A2 SLC5A7 RSPH3 CLCNKB LOX TGFBR2 FASTKD2 CTRC FAM13A SFTPC EFEMP2 UBQLN2 SLC52A3 CCDC39 MAPT SDCCAG8 FUS ACADM OTX2 FGFR2 FBP1 DNAJC21 MATR3 ND3 RAPSN FBN1 NKX2-1 SFTPA2 COX6B1 SMPD1 NDUFB11 CHRNA1 FGFR2 NDUFB8 COX7B COX8A EIF2AK4 FIG4 HLA-DRB1 FBLN5 ARMC4 CHMP2B TSC1 MMAA STAT3 SSR4 LYRM4 CYB5A POLG2 TSC1 ZIC3 STT3B C1R MYL3 FBP1 MPC1 LDLRAP1 HLA-DRB1 SLC25A4 ATXN2 CHRNE ACVRL1 GLA ABCG8 TRMU GNAS LAMB2 CFTR CCDC151 USP9X LAMA3 IRF2BP2 ND1 VCP IL1RN FGFR2 ND6 BCOR ETFA ND2 POMT1 TERT CHRND ALAS2 BMPER CDC6 SCO2 DRC1 WAS STK36 TRMT5 GBA LIFR SH2B3 FAM20C TRNS1 RPGR NDUFS2 VCP TGFB3 DNAL1 CFAP298 RPS28 TET2 ZBTB16 NUMA1 DCTN1 DNAAF1 CSF2RB SMAD4 TRNE TAF15 ACADVL GAS2L2 AGRN SNAP25 CSF2RA FGFR2 STAT5B DNAAF5 GBA C1QA PON1 TTC25 SLC25A1 DNAAF3 PMM2 MMUT MEGF10 CCR6 FLNC SLC35A1 CCN2 DYNC2LI1 PRPH EPHB4 MMUT HLA-DRB1 STAT5B TRNV DMPK SLC18A3 SOX9 SBDS COX14 KCNJ6 NABP1 TREM2 CHRNB1 SMAD3 GTPBP3 MUSK WIPF1 DSC2 DOK7 TRNN PFN1 MCIDAS RARA C9ORF72 HLCS CCDC40 PET100 EP300 NKX2-5 SCN4A SCN4A ENG CHAT CHRNB1 SOD1 GLT8D1 CRELD1 DNAJB13 TRNW SCNN1B ANG GLE1 NEK1 PIGT SCNN1A COL2A1 APOB ZFPM2 RSPH4A NGLY1 COLQ FOXE3 TRAK1 ATRX CCNO NPM1 VAMP1 LGI4 PLCB4 MYBPC3 NR2F2 CNTNAP1 NDUFAF3 ELN SCN5A COPA TK2 SLC25A3 CHAT SLC12A3 CYB5R3 ETFDH AIMP2 PRKAR1A CRLF1 COA8 GAA SCO2 TBX4 FIP1L1 UBE3B DNAI2 ND4 LAMB3 TACO1 SPAG1 CHRNE TWNK PML SFTPC XYLT1 TBL1XR1 SFTPA2 JAK2 TARDBP ISCU MARS1 MYH11 RPS26 STX16 COX20 GATA6 RTEL1 TERT ERF SCNN1G PNKD TERC SFTPB SERPING1 DPM2 GNAS PRKCSH DNA2 SURF1 MAPT NME8 DNAAF4 FGFR1 EFTUD2 UNC13A CHRND NOD2 TBK1 ADAMTS13 PARN PRRX1 CFAP410 BMPER RSPH1 VAPB ARX DBH CCNF TRPM4 CCDC114 GNAI3 TUBB4A ATP11A CAV1 COQ7 TBC1D24 GATA4 TSC2 NAGS DPP9 ITGA3 PRSS1 BMPR2 CFAP300 ERBB4 ADNP MFAP5 EPOR MYO9A TRNL1 ORC6 AGRN SPEF2 PRRX1 CDC45 MAT2A RUNX2 MYH11 SFTPA1 LDLR POLG TRIP11 OFD1 PRKAR1A FOXJ1 MYL2 ZMYND10 CHRNE PLEC SFTPC MGME1 MYLK NEB USP9X COA8 TRIP11 HBB GMNN TSC2 CASR ORC4 ND5 DSP STAT4 NUP214 TRNE HLA-B MGME1 DNAAF3 DNA2 RSPH9 ABCA3 BTNL2 NEFH IFT81 COL2A1 LTBP3 IKZF1 KAT6A KLHL7 DAO SCN5A RNU4ATAC SCO1 PUF60 DNAJB6 ATP6 HCCS TNNC1 PON3 BTNL2 ADCY6 DMPK CFAP221 COL13A1 DNAAF6 AK9 STT3B PGM1 ACTA2 CHCHD10 PRKG1 TTN TGFBR1 MUC5B SERPINA1 IRF5 ABCA3 HNRNPA1 COL13A1 NPPA SIK1 GATA6 SPP1 CHRNA1 CSF2RB ORC1 NAGS EPHA4 EDA LRRC6 MUC5B PON2 COL2A1 GAS8 MMAB SYT2 EOMES SLC25A1 JPH2 PCSK9 ANXA11 AIFM1 VPS33A DPM2 ABCG5 CDT1 CREBBP ETFB TRNK CCDC65
Protein Mutations 0
SNP 0