SNPMiner Trials by Shray Alag


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Report for SNP rs7103572

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 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 Drug: Morphine sulfate Drug: Placebo
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

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.

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.

2 A Pragmatic, Phase III, Multi-site, Double-blind, Placebo Controlled, Parallel Arm, Dose Increment Randomised Trial of Regular, Low Dose Extended Release Morphine for Chronic Refractory Breathlessness

Breathlessness is an overwhelming symptom affecting tens of thousands of Australians every day. For many people, it persists even when all the underlying causes have been optimally managed (chronic breathlessness). In these circumstances, it often occurs at rest or with minimal exertion. Evidence from a number of clinical studies suggests that a small, regular dose of morphine helps to reduce safely the sensation of breathlessness. However, it is not well established which patients derive more benefit and what is the net clinical effect of this treatment (weighing benefits and harms). This is a phase III, multi-site, randomised, double-blind, placebo-controlled trial with patients with chronic obstructive pulmonary disease (COPD) and severe chronic breathlessness which will explore several important questions: - Are regular, low doses of morphine at four possible doses over 3 weeks more effective than placebo at improving breathlessness? - Does increasing the dose in people who already are experiencing some benefit provide even greater reduction in worst breathlessness? - Does the medication have any effect on daily activity and quality of life? - What are the common or serious side effects of this intervention? - Does the benefit from the medication outweigh the side effects it produces? - Are there specific characteristics of people who are more likely to receive benefit from extended release morphine? Participants will receive once daily extended release morphine (plus laxative, docusate with senna), or placebo (placebo laxative) in addition to their usual medication for up to 3 weeks at increasing doses. Participants will have a medical interview and 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 6 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.

NCT02720822 Chronic Obstructive Pulmonary Disease Dyspnea Drug: Placebo Drug: Morphine Sulfate Drug: Plus laxative (Docusate with senna) Drug: Plus placebo laxative Device: FitBit charge HR (Accelerometer)
MeSH: Lung Diseases, Obstructive Pulmonary Disease, Chronic Obstructive Dyspnea
HPO: Chronic obstructive pulmonary disease Dyspnea Obstructive lung disease Respiratory distress

Pharmacogenetic opioid profile - Number of participants with 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism.

The baseline blood samples will be analysed to detect the presence of 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism.

Primary Outcomes

Description: Rated on a 0-10 numerical rating scale (NRS). Measured at baseline, Stage1-3 (daily diary) and Stage 4 (weekly diary). The primary endpoint is: The difference between morphine sulphate 8mg and placebo (end of week1) The difference of morphine sulphate 16 mg and placebo (end of week 1)

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

Time: Week 1

Description: Difference from the baseline in the number of steps per day measured using the Fitbit(Charge HR). Measured at baseline, end of week 1, and end of week 3. The primary endpoint is: The difference between morphine sulphate 8mg and placebo (end of week 1) The difference between morphine sulphate 16mg and placebo (end of week 1) Comparison between baseline and end of week 3

Measure: Change from the baseline in the number of steps per day

Time: Week 3

Secondary Outcomes

Description: Measured at baseline and at the weekly visit for the randomisation phase, and then at the study exit in order to assess the theoretical risk of opioids worsening respiratory failure. Stages 1-4.

Measure: Change from baseline end-tidal carbon dioxide

Time: Up to week 15

Description: Measured at baseline and at the weekly visit for the randomisation phase, and then at the study exit in order to assess the theoretical risk of opioids worsening respiratory failure. Concomitant use of oxygen will be recorded. Stages 1-4.

Measure: Change from baseline pulse oximetry

Time: Up to week 15

Description: Rated on a 0-10 numerical rating scale (NRS). Measured at baseline, weeks 1-3 (daily diary) and stage 4 (weekly diary).

Measure: Change from baseline intensity of breathlessness "average"

Time: Up to week 15

Description: Rated on a 0-10 numerical rating scale (NRS). Measured at baseline, weeks 1-3 (daily diary) and stage 4 (weekly diary).

Measure: Change from baseline distress from breathlessness over the previous 24 hours

Time: Up to week 15

Description: Chronic Respiratory Questionnaire - Dyspnoea and Mastery Subscales. Baseline and end of Weeks 1-3.

Measure: Change from baseline perceived-impact of breathlessness

Time: Up to week 3

Description: Rated on the Modified Medical Research Council Breathlessness Scale (mMRC). Measured at baseline and at the conclusion of the study.

Measure: Change from baseline functional impact of breathlessness

Time: Up to week 15

Description: Measured using the Fitbit(Charge HR). Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline sleep minutes

Time: Week 3

Description: Measured using the Fitbit(Charge HR). Given in number of movements per night (e.g. rolling over). Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline sleep activity

Time: Week 3

Description: Measured using the Fitbit(Charge HR). Difference from baseline in the number of active minutes per day. Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline in activity levels

Time: Week 3

Description: Measured using the Fitbit(Charge HR). Difference from baseline number of calories spent per day. Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline total energy expenditure

Time: Week 3

Description: Measured using Australian-modified Karnofsky Performance Status (AKPS). Baseline, Stage1, Stage2, Stage3 and Stage 4.

Measure: Change from baseline performance status

Time: Up to week 15

Description: Measured using Barthel Index. Baseline and Stage 4.

Measure: Change from baseline activities of daily living

Time: Up to week 15

Description: Rated on a 4 point Likert scale. Measured at baseline, weeks 1-3 (daily diary) and stage 4 (weekly diary).

Measure: Change from baseline in sleep quality

Time: Up to week 15

Description: Thirty (30) 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. Baseline and Stage3.

Measure: Change from baseline in objective sleep testing

Time: Week 3

Description: Up to ten (10) participants will also undergo two (baseline and Stage 1) in-laboratory overnight sleep studies in Sydney and Adelaide.

Measure: Change from baseline Polysomnography

Time: Week 3

Description: Twenty (20) participants in Adelaide and Sydney. Baseline and on day 2 and 7 of the first week in an office-based simulator - AusEd.

Measure: Change from baseline Driving ability

Time: Week 3 + 2 days

Description: The baseline blood samples will be analysed to detect the presence of UGT2B7*2 and *28 polymorphisms.

Measure: Pharmacogenetic opioid profile - Number of participants with UGT2B7*2 and *28 polymorphisms

Time: Baseline (1 day)

Description: The baseline blood samples will be analysed to detect the presence of P-glycoprotein polymorphism (ABCB1 5SNPs in a haplotype block)

Measure: Pharmacogenetic opioid profile - Number of participants with P-glycoprotein polymorphism (ABCB1 5SNPs in a haplotype block)

Time: Baseline (1 day)

Description: The baseline blood samples will be analysed to detect the presence of 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism

Measure: Pharmacogenetic opioid profile - Number of participants with 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism

Time: Baseline (1 day)

Description: The baseline blood samples will be analysed to detect the presence of Mu receptor (A118G) polymorphism

Measure: Pharmacogenetic opioid profile - Mu receptor (A118G) polymorphism

Time: Baseline (1 day)

Description: In a subset of 55 participants, morphine peak plasma concentrations will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine Peak Plasma Concentration [Cmax]

Time: Week 1

Description: In a subset of 55 participants, morphine AUC will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine Area Under the Curve (AUC)

Time: Week 1

Description: In a subset of 55 participants, M6G Peak Plasma Concentration will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-6-glucuronide (M6G) Peak Plasma Concentration [Cmax]

Time: Week 1

Description: In a subset of 55 participants, M6G AUC will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-6-glucuronide (M6G) Area Under the Curve (AUC)

Time: Week 1

Description: In a subset of 55 participants, M3G Peak Plasma Concentration will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-3-glucuronide (M3G) Peak Plasma Concentration [Cmax]

Time: Week 1

Description: In a subset of 55 participants, M3G AUC will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-3-glucuronide (M3G) Area Under the Curve (AUC)

Time: Week 1

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

Measure: Change from baseline serum testosterone level

Time: Week 15

Description: Rated on a Lickert Scale. Baseline, weeks 1-3 (daily diary), Stage 4 (weekly diary): Includes constipation, anxiety, appetite, nausea, vomiting, drowsiness, difficulty thinking clearly, problems passing urine, itch, other symptoms.

Measure: Adverse Effects

Time: Up to 15 weeks

Description: Measured using the Edmonton Symptoms Assessment Scale (ESAS)

Measure: Change from baseline in concurrent symptoms

Time: Up to 15 weeks

Description: Rated using the Hospital Anxiety and Depression Scale (HADS). At baseline, completion of randomization stage and study exit.

Measure: Change from the baseline anxiety and depression

Time: Up to Week 15

Description: Participant-rated 7 point scale of the perception of their change, specifically their improvement since the commencement of the study. Measured at the end of Stages 1-3 and conclusion.

Measure: Change in baseline global impression of change

Time: Up to 15 weeks

Description: Measured with EQ-5D-5L questionnaire. Baseline, Stages 1-3, Stage 4, conclusion.

Measure: Change from baseline health-related quality of life

Time: Up to 15 weeks

Description: Measured with the COPD Assessment Test (CAT) Baseline, Stages 1-3, Stage 4 and conclusion.

Measure: Change from baseline health-status in COPD

Time: Week 3

Description: Asked at the end of week 1 and at the conclusion/drop-out of the study. A 3-point Likert scale will be used.

Measure: Blinded-patient preference to continue the treatment [3-point Likert Scale]

Time: Up to week 15

Description: Scored using the Zarit Burden Interview (ZBI) 12 item short-form questionnaire. Baseline, end of weeks 1-3, stage 4.

Measure: Change from baseline caregiver Impact

Time: Up to week 15

Description: From randomisation to 28 days post treatment or death (whichever is the shorter period). Estimated based on all health-care contacts including length of hospitalizations, emergency department visits, DRG codes, community health visits, GP and community nurse visits, outpatient visits and date of death. These participant level data allow within trial modeling using bootstrapping methods of replicates for costs and consequences of alternative strategies, allowing for covariance between costs and effects. Incremental net monetary benefit and cost-effectiveness acceptability curves will be estimated at potential threshold values for an additional responder.

Measure: Economic Evaluation - Cost per responder

Time: Up to week 4

Description: Evaluation using the Subjective Opioid Withdrawal Scale (SOWS) for 3 consecutive days. After the completion of the study (Weeks 1-15).

Measure: Opioid Withdrawal

Time: Up to week 15 + 3 days


HPO Nodes


Obstructive lung disease
Genes 84
HLA-DPA1 DNAH9 CCDC103 PTPN22 DNAH11 DNAAF3 HIRA LRRC56 CYBB GLA LRRC6 GAS8 SERPINA1 CFAP298 SPAG1 CCDC40 ARMC4 CYBA GAS2L2 CCDC151 NCF1 NFKB1 MYH7 DNAAF2 RREB1 MMP1 CFAP221 WIPF1 HLA-DPB1 DNAAF1 RSPH4A APC OFD1 NME8 DNAAF4 SCNN1B DNAI2 CFTR CCDC65 TBX1 GP1BB HMOX1 DNAAF4 ARVCF CFAP300 SCNN1A DNASE1L3 SEC24C FOXJ1 DNAI1 DNAAF6 NCF4 SCNN1G CCNO DNAH5 GLA CCDC114 SERPINA1 RSPH1 CCDC39 STK36 JMJD1C CTLA4 DNAJB13 RPGR MGP PRTN3 TTC25 DNAL1 DNAH1 ZMYND10 RSPH3 TBX1 COMT RSPH9 UFD1 SPEF2 NCF2 DNAAF5 DRC1 WAS CYBC1 MCIDAS HYDIN
Respiratory distress
Genes 230
DNAH9 DNAH11 ND5 EPHB4 SBDS TBC1D24 SPAG1 ORC1 TRNW ZFPM2 ND6 DNAAF3 GAS2L2 CCDC151 LYRM4 DISC1 CHRNE TRNV STT3B NDUFAF3 IFT81 CDT1 ETFA TRMU RSPH4A GBA TACO1 SLC52A3 NME8 COL2A1 COLQ FBP1 DNAAF4 ALDH7A1 MYO9A AGRN CCDC65 SLC18A3 TRNN FGFR2 ORC1 CFAP300 RUNX2 DNAI1 TRAK1 COX6B1 RSPH1 CCDC39 PMM2 ORC4 SLC2A10 DMPK DNAL1 MAPT ND2 ZMYND10 KAT6A NKX2-1 SURF1 COX8A MMAB SLC35A1 NUP214 GBA GAS8 CFAP298 DPM1 FGFR1 PUF60 IFT52 EP300 TRNE COX14 DNAAF2 MPC1 COL2A1 GMNN BMPER NDUFS2 ORC6 NAGS DNAAF1 PRSS1 PET100 SRP54 HLCS FAM20C COX20 EOMES CSF2RA RPS28 AIMP2 AIFM1 HCCS DNAAF6 STT3B DNAH5 SETBP1 PRRX1 SFTPC OTX2 SLC25A3 TTC25 LAMB2 SLC5A7 SPEF2 DNAAF5 TRIP11 LIFR TUBB4A NAGS ACADVL TK2 LGI4 ARMC4 COA8 SNAP25 ND3 RPS26 SERPING1 COL2A1 EFTUD2 ADCY6 KCNA1 FOXP3 CFAP221 IL1RN ND4 TRIP11 NGLY1 STAT5B MAPT COPA GATA6 MMAA MMUT ABCA3 SFTPB XYLT1 GATA6 VPS33A FOXJ1 CSF2RB MEGF10 SDCCAG8 ADAMTS13 ZIC3 CHAT FASTKD2 ETFB CCNO NDUFB8 CHAT STK36 FGFR2 TRNS1 KLHL7 POMT1 TRNE CNTNAP1 DNAH1 RSPH3 RSPH9 GNAI3 FBLN5 TRNL1 PRRX1 EDN1 DRC1 VAMP1 ADNP COX7B CPT2 CCDC103 ND1 DNAAF3 LRRC56 LRRC6 CCDC40 SLC25A1 SLC12A3 CFTR COQ7 SCO2 EDA SCO2 DMPK FOXF1 EFEMP2 PLCB4 UBE3B NKX2-1 OFD1 TRNK COL13A1 ITGA3 ETFDH COL2A1 DNAI2 SOX9 DNAJC21 SCO1 SYT2 USP9X DPM2 FGFR2 SSR4 USP9X COX10 CDC6 NDUFB11 CCDC114 FGFR2 DYNC2LI1 TRPV6 CDC45 DNAJB13 RPGR ATP6 CREBBP CLCNKB SIK1 CTRC DPM2 MMUT BMPER SPINK1 ERF MCIDAS HYDIN
Chronic obstructive pulmonary disease
Genes 31
HLA-DPA1 TBX1 GP1BB HMOX1 PTPN22 DNAAF4 HIRA CYBB SERPINA1 ARVCF CYBA SEC24C NCF1 NFKB1 MYH7 NCF4 GLA SERPINA1 JMJD1C CTLA4 RREB1 MMP1 WIPF1 PRTN3 HLA-DPB1 TBX1 COMT UFD1 NCF2 WAS CYBC1
Abnormal lung morphology
Genes 1201
GPC3 ARID1B NFKBIA POLR3H TNFRSF11A GLI3 CLPB BIRC3 IL17RA ZFPM2 WDR34 CTSC BTK FCGR3A PORCN STRA6 PIGL FRAS1 PHGDH SLC18A3 STAT3 TERT CFTR TAF1 GLI1 CFTR PRKCD DNAAF4 EGFR TGFB1 LEPR SLC18A3 ZMPSTE24 COL2A1 DICER1 PEPD DLL3 NGLY1 TERC WAS MARS1 TTC21B DNAAF2 SELENON IRAK4 SFTPA2 ARMC4 FBN1 GBA RSPH1 DYNC2LI1 SLC2A10 ALOX12B DNAL1 TINF2 UNG DHCR24 ADAMTS2 IL2RB NKX2-1 HOXD13 SFTPB KIAA0586 SPINK5 HIRA GBA GAS8 CEP57 CFAP298 WDR60 GNPTAB KRAS LEP MCTP2 KAT6B PUF60 CD3G FCN3 CYBA TBL1XR1 DOK7 CHRND SMN1 EP300 BUB1B DOCK8 EFEMP2 ESS2 SMPD1 SCNN1G CSF2RA RBPJ BCOR HLA-DPB1 KAT6B DNAAF1 ICOS KIF11 MEFV SPAG1 CCDC40 TRAIP CARD11 RSPH4A IL10 LZTR1 CHRNG PTPRC NOTCH3 SNORD115-1 NOTCH3 ARVCF BACH2 RLIM RAG2 ITCH DGCR6 MST1 FCGR2A TBX5 CD28 IDUA SLC25A22 STN1 MGP CD8A SULT2B1 CHST14 JMJD1C TPM2 CCDC103 HELLS FCGR2A MRPS22 SLC5A7 CEP55 SDR9C7 HERC2 GPC6 TGFBR1 STAT3 TTC37 CD247 MESP2 GTF2I CDC45 BLNK IGH CCNQ KIAA0586 BLNK FOXP1 MAT2A SMARCA4 SGCG FAM20C PRKN MPLKIP NPAP1 FOXE3 NCF1 SMAD4 CYP4F22 TPP2 RNU4ATAC EIF2AK4 STAT6 NGLY1 LRBA DNMT3B CCR6 GATA6 P4HTM TRPS1 COL13A1 MIF C1R DNAAF5 SFTPB CD81 CARMIL2 GATA6 CCNQ TAP1 FGFR3 SFTPC MESP2 SMAD4 SNX10 DOCK8 SHROOM4 WDR35 GRIP1 ETFB MARS1 FLNB LETM1 TERT APOE SMPD1 CSF2RB CTLA4 SCN10A GREB1L ITGA8 NPM1 LGI4 MYH3 CR2 ARID1B SERPINF2 NHLRC2 GPC4 COL1A1 DCLRE1C NDN SGSH LRRC56 LRRC6 HPS4 BTNL2 CCDC40 ALG9 TMEM94 BTK DGCR8 CCBE1 EWSR1 WDR60 PGM3 COG4 PSAP HES7 SCN9A CFB KIAA0319L LMNA HLA-DRB1 RBM10 EFEMP2 MRAS SMARCC2 AGGF1 COL6A2 POLR3A GTF2E2 SMAD3 ALDH18A1 WRAP53 INVS ITGA3 CFI HLA-B FBLN5 DNAI2 MINPP1 FAS SLC26A2 ZAP70 DCTN4 NR5A1 CD79B NEK9 FREM2 ARHGAP31 KIF1A AFF4 BTNL2 CYP2A6 DONSON WDR34 GLA TIRAP STAT3 CCDC114 ACVRL1 PTEN DLL4 ZBTB16 GATA6 HYLS1 PIK3R1 HACD1 DPM2 KITLG RMRP DNAH11 STAT5B ERF EPM2A HYDIN G6PC3 ATM COL5A2 SNORD116-1 DNAH11 NFKB2 EPG5 BCL10 CCR1 SON ERCC2 AK2 RASA2 STRA6 SLC35A1 MS4A1 DNAAF3 REN MYH3 CCDC151 LIG4 MKKS ATP11A FBLN5 ATP6V0A2 BMPR2 SLC22A18 SOS1 RFC2 PPP2R1B TGFBR2 IFT81 WIPF1 GATA4 LFNG RAF1 NOP10 RFXANK RSPH4A HLA-B SLC52A3 NHP2 CXCR4 GSN PCNT TNFRSF13B LEP TERC CORO1A CCDC65 PTPN22 CD55 TGFBR1 IL17F ALG12 STAT4 COL11A2 MEFV NHLRC1 ABCA12 LTBP3 SCNN1B DVL3 HLA-DRB1 RPL10 NSD2 RARB TECPR2 CCBE1 EPG5 VANGL1 FLNA CCDC39 RFXANK BMPR2 CARD11 SFTPC CFH OFD1 ITCH MYH11 JAGN1 PRKAR1A LRRC6 NAA10 ITPR1 CFTR GLE1 PLP1 GPR35 INTU STAT1 NR2F2 CYBC1 ABL1 SLC35A1 HLA-DPA1 LBR PSMC3IP BRAF CASP10 RAG2 TERT CACNA1C HLA-DRB1 PHGDH CHRNA1 TRIP13 MYD88 IDUA B3GLCT NOTCH2 TAPT1 KIAA0556 AICDA CLCN7 PANK2 PAX6 MKS1 RANBP2 FARSB FGF20 FLNA ELN CIITA RSPH3 ADA DNAAF2 PLVAP BCL2 EMG1 KMT2D ZNF341 TNFRSF1A IL7R LEPR NAGLU RAG2 MESP2 CD46 WT1 ELN SCNN1A PERP HLA-DRB1 DIS3L2 DLL3 MITF CSF2RA LAMTOR2 BRAF RAG1 BLM CCR6 NSMCE3 UMPS INHBA ELN IL23R RFX5 GRHL3 IL6 LIPN WT1 TTC25 FGFR3 ADA LMNA TTC25 ACTA1 TP53 ZAP70 LOX UFD1 ALPL IGHM SCNN1G STAT3 COL3A1 RAG2 NBN FLCN LIFR TGM1 PIK3CA CACNA1B ATP5F1A GPKOW ARMC4 TREX1 NCF1 SNAP25 SERPINH1 IPW FADD CXCR4 TSC2 CD3E BUB1 MCM4 CFAP221 ERAP1 CTC1 DNAI2 KCNJ6 COPA NOTCH1 SPINK1 CCDC114 DOCK6 PLG ABCA3 SLC25A24 SOX10 LRRC8A FAS ICOS POLA1 VPS33A PRKAR1A FCGR2B CHAT PAX3 CCNO ALMS1 NCF2 ITGA8 GLB1 CHRM3 TNFRSF13C ERCC3 EVC FADD CTLA4 CD79A BMP15 H19 RSPH9 NEK8 CFTR NCF2 FLNB FASLG MAP3K8 RIT1 MECP2 TERC KLHL40 CCND1 HLA-DRB1 IKBKB DNAAF3 TP53 MAGEL2 CCN2 ACP5 CHAMP1 HYDIN TINF2 EOGT MTHFD1 SMARCB1 ABCA3 RAG1 PIK3R1 TERT PWAR1 SCARB2 OCRL MS4A1 DNAAF6 PIK3R1 CCDC39 UBE2A NKX2-1 TCF4 ACTA2 ARID2 ZBTB24 UBAC2 FRAS1 TINF2 ETFDH WDR19 GNPTAB C4A NFIX RAG2 PTEN SCNN1A RFXAP USP9X NFKB1 NIPAL4 WRN IL2RG POLE MEFV KLHL41 PKHD1 AGT TGFBR2 INPPL1 GBA MYBPC3 GUSB CITED2 CTRC CSPP1 RHOH MCIDAS DCLRE1C TIMM8A DNAH9 PEX1 SIK1 GTF2H5 IER3IP1 GUSB EPHB4 COL2A1 TBC1D24 SPAG1 MSN GAS2L2 NIPBL NFKB1 CRELD1 BRCA2 IGLL1 RNF168 ZBTB24 RFX5 TERT MKRN3 RASGRP1 PLEC NOP10 BICC1 NSDHL MUSK ENG MBTPS2 DHCR7 IRAK4 COLQ TCTN3 MYO9A TBX1 DRC1 CC2D2A IRF2BP2 WNT4 HSPG2 TAP2 KEAP1 LAMA2 DICER1 WT1 CFAP300 RIPK4 DNAI1 TBCD RRAS2 IL2RG RELA SOX4 MFAP5 IFNGR1 NOD2 GLI3 TRPV3 ZMYND10 NRAS RFXAP FOXF1 DGCR2 RSPH9 PLOD1 SLC11A1 SLC7A7 SCNN1B PKD1L1 TRIM28 SLCO2A1 CLCA4 MLXIPL CLIP2 BMP2 CCDC65 DHCR24 POU6F2 SFTPA1 FIP1L1 SERPINA1 TRIP4 USB1 UBB FLCN LAMTOR2 TBC1D24 NECTIN1 SAMD9 CCNO AARS2 LMOD3 GLDN CIITA MUC5B LCK NPM1 MMP21 IFT172 COL5A1 TBL2 ASAH1 ALMS1 DNASE1 RUNX2 DNAAF4 SH3KBP1 NPHP3 CSPP1 DNAI1 IL12A-AS1 NABP1 TSC1 TNFRSF13C SEC24C TGFB2 IDUA IL2RG CCND1 DNAAF6 MYH7 GALNS NUMA1 FUCA1 RIPPLY2 B2M SFTPC FLI1 CD3E ELANE ASCC1 TCF3 SLC29A3 RELB ERCC6 ACTA1 FGFR1 LAMB2 COMT SPEF2 AGA ELN PYROXD1 CLEC7A NAA10 KRAS GPC3 SMPD1 SOX11 REST DDR2 BCL11B SLC7A7 NUP88 FLCN EDARADD SPECC1L FAM111B MYSM1 ARID1A GNS CD79B LYST PDGFRA SRP54 PIEZO2 BGN IL1RN GATA4 TRIP11 GBA SLC26A2 NUP107 NAA10 THOC2 SELENON RARB STX1A RTEL1 TNFRSF13B GP1BB SKIV2L VPS13A BCOR BCOR INPPL1 CAV1 AP3B1 EDNRB NOTCH2 GATA2 IRF5 CSF2RB TTC7A SDCCAG8 FANCB JAK3 TBCE RTEL1 OSTM1 VHL CCDC151 NEK1 IL21 SPP1 DNAJB13 JAK3 RNF125 INSR STK36 IL7R POLA1 CD19 FOXC2 CD3D RSPH3 TRIM28 FBLN5 SNAI2 TAPBP RAPSN CYBB CCN2 DRC1 VAMP1 ADNP WT1 PTPN22 IFT80 PTPN11 ARSB SP110 ZEB2 SLC25A1 ASAH1 PCGF2 SOS2 COQ7 COL6A1 GATA6 SLC46A1 EVC2 RRAS IKBKB LPIN2 TGFB2 GLE1 GAS2L2 RREB1 TGFB1 PEPD RNU4ATAC STK11 MYL2 SCN11A C1QA ERBB2 TSC2 KLRC4 PSAT1 MYT1 DICER1 SCNN1B BTK CCDC22 DSP CFTR RYR1 ADAMTS3 CD81 WDR60 PLG SYT2 USP9X DKC1 GLI3 LMNA PRPS1 ELANE C11ORF95 WNT3 ALB RSPO2 IFT80 NME8 ATP6V1E1 TNFRSF13C RPS15A MAP3K20 DYNC2H1 TNFSF12 KAT6B ADA SMARCE1 FASLG DSG1 ELN RPGR IFT43 CREBBP PRTN3 COL3A1 LTBP4 NFE2L2 FLNA BMPER RIT1 RCBTB1 GAS8 FBN1 DPF2 BAZ1B CASP8 EHMT1 KRAS LACC1 ARHGAP31 PRSS2 CRELD1 NFKB2 WDR35 ZMYND10 IL17RA TARS1 NXN FANCB COL6A3 TCIRG1 WASHC5 CHRNG ETFA GDF1 DPP9 NME8 IL17RC AGRN CHRNG CDT1 RPGR TBX1 CBL NADK2 GTF2IRD1 PML IRF1 ABCA12 LAT IFT140 PTPN11 MANBA PARN GFI1 NBN RARA RNF113A HELLPAR PMM2 SPIDR SCNN1A ICOS TNFSF12 PWRN1 MGP USB1 TYK2 IL21R FMO3 AGA IRF5 FSHR MYRF SLC34A2 RIPK1 DNAAF1 HPGD ORC6 HPS6 NPHP3 GMNN RB1 RYR1 CFAP298 JAG1 TNFRSF13B KDM6A TSC1 SAMD9L GDF1 ROR2 WNT4 ACE TPM3 WDR34 FBN1 GBA CFI BUB3 COG4 PPP1CB TSC2 PRKG1 MYLK MUSK IGHM TSC1 TRAF3IP2 RAF1 CEP120 PGM3 IL12A TNFRSF1B DNASE1L3 EGFR ELP1 ELN FLCN PNP DNAH5 HGSNAT SETBP1 ECM1 PIGN CR2 MASP2 RTEL1 SFTPA2 AP3D1 MBTPS2 RAC1 CRTAP PIGN KAT6B IFIH1 DNAAF5 BRAF ADGRG6 FAT4 SNRPN DYNC2H1 SOX18 CD19 ACADVL TNFSF11 CYBB PTPN22 PEX13 TRIP13 TK2 AKT1 SLC2A10 GAA PRKDC ALOXE3 CR2 CYBA FUZ RAG1 PTH1R MUC5B CDCA7 LMNA TERC RAG1 CD19 CD79A DNAH5 TFRC PIEZO1 FOXP3 IRF8 NEB LYST EXOSC9 A2ML1 CD3D CRKL RYR1 NKX2-5 BAP1 TGFB3 PDGFRB DCLRE1C PARN CTLA4 CEP120 PRKAG2 DCLRE1C SLC26A2 TGFB1 CTLA4 XIAP RSPO2 IL7R TRPV4 BCL6 IKBKG FOXJ1 NELFA ZMPSTE24 IL2RG CASP8 TMEM260 RAG1 IGLL1 CFAP410 CAV1 HPS1 SERPINA1 FOXE1 UNC119 RSPH1 LIMK1 MYOD1 DYNC2LI1 RAG1 SLC26A2 PARN TRIP4 STAT1 DNAH1 FAS WDR19 DHCR7 WAS CCDC103 IL2RA TLR4 SLC12A6 ACTA1 ATM RET LRRC56 RAB3GAP2 PIGN FGF20 STAT4 IKZF1 PRKCD SLC35C1 HFE MKRN3-AS1 SH2D1A HABP2 NAB2 NCF4 XIAP MAPK1 FSHR CHD7 IGH AGTR1 WNT3 BLM HLA-DRB1 SMARCD2 NKX2-5 TBX6 STING1 ELP1 OFD1 COL13A1 NHP2 RAB27A MYO5A DKC1 FAM13A COL11A2 TRIP11 HRAS IRAK1 PRSS1 GRIP1 PLCG2 NCF4 ZNHIT3 MALT1 SCNN1G BCR NRAS TCIRG1 MEFV SOX18 TBC1D23 CEP57 SERPINF2 DNAJB13 PIK3CD FAT4 TBX1 ITGA7 RNF168 SMN1 TERT DNMT3B SMAD3 NFKB2