SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT04681820 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT01369199 (13) NCT00337467 (13) NCT00098293 (13) NCT01368497 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT02725567 (10) NCT01614470 (10) NCT01423812 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NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT04625647 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT03058094 (3) NCT01282151 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02684591 (2) NCT02282267 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT03333343 (2) NCT00525473 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00969137 (2) NCT00834665 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT04687241 (2) NCT00005541 (2) NCT01242813 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT04309019 (2) NCT03720665 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04622072 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT03239145 (2) NCT04511533 (2) NCT00226551 (2) NCT02191891 (2) NCT04586270 (2) NCT04669535 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03991013 (2) NCT02500927 (2) NCT04657991 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04646824 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT04657289 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT04429542 (2) NCT01841463 (2) NCT03865511 (2) NCT03205267 (2) NCT01218477 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT04645225 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT04644315 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT04675008 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT04687423 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT03586453 (2) NCT01998295 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT04636437 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) 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NCT03678506 (1) NCT02146365 (1) NCT04310943 (1) NCT02619955 (1) NCT02934139 (1) NCT00400387 (1) NCT00375219 (1) NCT00149305 (1) NCT03520946 (1) NCT02787447 (1) NCT04501614 (1) NCT03166631 (1) NCT04213313 (1) NCT02078531 (1) NCT02349048 (1) NCT02981784 (1) NCT04636593 (1) NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT04500717 (1) NCT01074398 (1) NCT03134131 (1) NCT02455167 (1) NCT01004497 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02455362

Developed by Shray Alag, 2020-2021.
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 pulmonary obstruction Dyspnea Pulmonary obstruction 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 1425
KMT2D SMARCB1 ABCA12 MAT2A TNFSF11 TRAIP MAGEL2 DNAAF1 NFE2L2 MITF NFKB2 LCK MAGEL2 SGCG ALG9 TECPR2 GTF2IRD1 CALCRL KAT6B CHAMP1 OFD1 CTRC SCNN1G CD247 MGP TGFBR2 SPINK5 CTPS1 RASA2 NHLRC2 PHGDH RTEL1 NTRK1 NGLY1 ARVCF SLC2A10 RELB ZNF341 RSPH9 FCN3 NELFA RREB1 NAA10 MALT1 HPGD CFTR GLI1 OCA2 LETM1 NPHP3 PIK3CD FSHR FMO3 USP9X TCF4 WDR35 PRSS1 HLA-DPA1 DNAH11 RIT1 ZAP70 STK11 NKX2-5 UNC119 CDC45 BUB1B SNAI2 WAS SIM1 GNPTAB DYNC2H1 FOXH1 CFAP221 TARS1 NF1 NEB LAMB2 TTC7A CCR6 RARA ACTL6B MYO5A CD81 ADNP TNFRSF13B SEC24C TBX1 MYH6 COL3A1 TSC1 CYBA HLA-DPB1 TERT GNS FOXH1 EVC2 LIPN KATNIP TPM2 RRAS2 TSC1 EPHB4 COL6A1 NIPBL SPAG1 FLNB IL17RA HSPG2 ITGA8 GAS1 SLC12A6 EFEMP2 CRLF1 SLC26A2 GMNN DGCR8 ACTA2 CTLA4 SLC35A1 ADAMTS3 TAPBP SLC25A24 PRKCD SPECC1L CCR6 CXCR4 HOXD13 BLM RNU4ATAC CFAP300 FOXP1 CDON CD79A TTC21B CBL RAG1 VPS51 DISP1 USB1 NUP107 NEPRO COL11A2 FLNA CR2 ACVRL1 LAMTOR2 NEK1 SNORD115-1 GLE1 MAP3K20 DNMT3B SLC26A2 FAS MKRN3-AS1 LYST PIK3R1 ACADVL LIFR TDGF1 TAPT1 RFX5 VPS33A MYRF MDM4 HRAS TBC1D24 NGLY1 GLI2 FGF8 ODAD4 CCDC40 MYH11 C11ORF95 MCM4 CTLA4 CRELD1 ZBTB24 TINF2 ECM1 CAV1 NAA10 LRRC6 PUF60 CFTR FLCN COL11A2 CR2 FOXE1 CCBE1 ELP1 TFRC AGA SMPD1 PWRN1 MMP21 IPW GATA6 LACC1 TCIRG1 SERPINF2 BLNK IFT80 FLI1 UBB KIF20A STAT1 DLL4 MBTPS2 PAX3 ELP1 SNRPN DISP1 RMRP TGFBR2 KRAS STAG2 IRF8 SIX3 SOX10 KIF1A RYR1 IGHM BTK NOTCH3 DICER1 CYP4F22 CXCR4 RSPH1 MEFV CCBE1 DNAH11 ZIC2 WDFY3 CCND1 CSF2RA POLR3A BCL6 LAMA2 SMAD4 SKIV2L STAT1 SNX10 TERT FGF8 BRAF SFTPC FOXJ1 ATP11A AICDA SHH RYR1 ODAD1 SCARB2 SIK1 HACD1 CHRNG CREBBP TNFRSF13B CITED2 OCA2 MYBPC3 NODAL NOTCH2 CFAP298 SELENON CEP57 CTLA4 TRIM28 ZIC2 ALMS1 DOK7 ODAD4 IDUA DLL1 ELN SBDS COG6 TBX6 RFXAP PEX13 TCTN3 PTPN22 DGCR6 SFTPC RAG1 INTU EDNRB FGF20 MAGEL2 DNASE1L3 RASGRP1 STRA6 IFT81 COG4 MARS1 EPM2A MESP2 TTC12 SOS1 TBC1D23 IL12A-AS1 ENG SCNN1B CSF2RA TGFB1 CCN2 FBXW11 MAN2B1 HLA-DRB1 PTCH1 NPM1 EPG5 UGP2 GLI2 GAS2L2 TSC2 PPP1CB RANBP2 SCN11A GPKOW CBL CTLA4 IL12A MESP2 IL21R CRELD1 IL17RC UMPS TERT SLC18A3 MYSM1 DSE TRPS1 PEX1 MKRN3 RTEL1 RPGR DYNC2H1 PRKG1 DSG1 ACP5 FLT4 JAK3 TCF20 EXOSC9 MIR140 DNAL1 NCF4 ACTC1 IFT80 FGFR3 ALG14 VAMP1 RTL1 ESS2 WRN TGFB1 MKS1 DYNC2LI1 EWSR1 FGF20 CD3E POU6F2 ELN IDUA SFTPA2 SFTPB ATP5F1A FANCF PLCG2 SLC29A3 NDN PIGL RAG2 RAG2 SLC46A1 SLC2A10 RET PGM3 GBA IL2RG SULT2B1 DNAJB13 JMJD1C TP53 SDR9C7 BUB1 MSN MYOD1 FCGR3A SHROOM4 PNP COQ7 ACTA1 ERF MYSM1 ZEB2 ETFDH AGTR1 LEPR TBX1 PIGT FLNC DGCR2 NCF4 ODAD2 IFT172 RFXANK KAT6B DNAI1 GBA NEK10 DNAI1 KIAA0586 MPLKIP CCNQ MDM2 AGA LAMC2 RAG2 LEPR IL17F DCLRE1C SPIDR LIMK1 PEPD CCN2 ITGA3 MYT1L ZBTB24 STAT5B NCF1 CD3D EP300 RIT1 IL2RB GLI2 DICER1 COL6A3 FBLN5 TASP1 DCLRE1C FARSA CDC42 PYROXD1 IL7R TBC1D24 PLCG2 GAA ODAD3 STAT4 LTBP4 NFKBIA PKHD1 IL17RA KRAS MCTP2 BPTF IGLL1 SCNN1A ODAD3 TK2 PSMC3IP TPM3 RNF113A MBTPS2 IGHM PDGFRB RAF1 FASLG CCDC39 MUSK FAM111B NDUFAF6 TRIP4 MS4A1 SMN1 MUSK PRKAG2 SMARCC2 HLA-DRB1 CFH LEP CYBB LMNA PSMD12 NEU1 CD3E PTPRC STAT3 PLG CHRNA1 FOXH1 TNNI3 PRKAR1A TYK2 LOX FLCN NEK9 ORC6 RNF168 PTPN11 CARD11 CD3G LONP1 TGFBR1 CC2D2A GNPTAB IDUA TREX1 CYBB NBN NRAS LPIN2 DNAAF6 TGIF1 WAC ADA FBN1 STAT3 SETBP1 ACTA1 STRA6 CD3D STAT3 ZMIZ1 ETFB RSPH4A SFTPC HLA-B TBX5 TSC1 DNMT3B A2ML1 RPL10 RPL10 MEFV TP53 ITCH BRCA2 IRF2BP2 GAS1 ASXL1 NEK10 CCDC22 SAMD9 MYH7 WNT4 DOCK3 CD247 CFI RCBTB1 UFD1 TREX1 ASAH1 INPPL1 NOTCH2 SERPINF2 MECP2 DKC1 KAT6B MEFV GLDN CHRNG HYDIN CDT1 DNAAF2 IL6R LAMB3 NFKB1 RUNX2 IL1RN GLI3 IRAK1 KANSL1 DLL3 PTCH1 TGFBR1 NDUFB10 REN TDGF1 ABCA3 RAG1 KIF11 FGFR1 UBE2A MYOD1 NFKB2 PIK3CD SMN1 FREM2 TGIF1 LAT HELLS ZEB2 RSPH9 NSDHL SERPINH1 MTHFD1 FAM13A SETD2 PAX6 SOX18 SMARCD1 OCRL SLC52A3 BMPR2 DZIP1L TDGF1 WDR1 ALB CD28 ADA2 RAPSN DLL1 RBPJ WDR19 HLA-DRB1 SHH BMPER MYLK TMEM94 SIX3 PML TGFB3 MYL2 STAG2 TBL1XR1 FBN1 EFL1 TERC BUB3 HES7 FOXC2 RBM10 CFAP410 MASP2 TRIP13 GLB1 MEG3 MYH3 LIG4 PARN RHOH NFKB2 EDARADD DNAAF6 BCR RNF125 TLL1 DCLRE1C SCNN1A GPC3 ASAH1 SNAP25 NR5A1 NHP2 DNAAF5 DLL1 EXTL3 PRPS1 MAN2B1 FANCB COMT ZMYND10 FOXN1 PRKCD BLNK NTNG1 IL2RG IL7R EMG1 TRPV4 SMPD1 ETFA IRF5 NODAL WT1 NECTIN1 LAMTOR2 RAG2 ROR2 ADA FCGR2A IER3IP1 CYTB KDM6A BTNL2 WNT3 TLL1 ALOXE3 TGIF1 ASCC1 PIGN BNC1 RIPPLY2 BAP1 NOS1 NXN DSP DNAH1 ITPR1 IGH PIEZO1 CSPP1 COL3A1 ARHGAP31 MS4A1 NODAL USB1 LRRC56 NPM1 TSC2 ATP6V0A2 DHCR7 ZBTB16 EPG5 TINF2 CASP8 PRPS1 IKBKB ARID2 SHH ARID1B RLIM EGFR CDKN2A LAMA3 SFTPA1 IKZF1 CAV1 PLOD1 PRKDC LMNA JAK3 BMP2 AKT1 CFTR ELN AGT DNAAF4 ATP6V1E1 IFT140 BTK BTNL2 COPA PEPD SCNN1B KCNJ6 GAA MCIDAS PTEN SOX4 ZMYND10 UNG GATA6 DYNC2I1 PSAT1 GATA4 SLC26A2 NDN BCOR NAB2 CD81 NKX2-1 PLOD1 PLEC FUZ CRTAP FGF8 GAS1 ABCA12 REST B3GLCT IGH CLIP2 SCNN1B H19 CYBC1 ELN RAG1 ALDH18A1 MYT1L KLHL41 ACE RSPO2 CLEC7A HIRA GP1BB DRC1 GDF1 TP53 GLI3 SVBP TCIRG1 FRAS1 IRF5 GDF1 PMM2 PAFAH1B1 ZMPSTE24 TGM1 DLL1 SIX3 CCNQ TIMM8A ELN PTEN FUCA1 MYD88 SPAG1 ARID1B AGGF1 THOC2 ABCA3 ARSB CFB PORCN HFE SOX11 NOTCH1 FOXP3 TERC USP9X P4HTM DRC1 AP3B1 CBL POLA1 CDON PKHD1 TAF1 COLQ SON TRPV3 TSC1 DVL3 TCF3 TRIP4 CHEK2 FLNB STAT5B STXBP2 CREBBP NPAP1 FAM20C STK36 DOCK8 SLC7A7 DDR2 TTC37 CD8A DOCK6 CD46 CCDC65 BCL2 INPPL1 DIS3L2 MFAP5 TNFRSF13C KNSTRN RPS15A GLA SELENON LRRC6 KMT2E SLC5A7 TERT GRIP1 DYNC2I2 PTPN22 FAT4 SHH IFIH1 IL7R PARN ARHGAP31 CSF2RB CHST14 TANC2 CIITA ZIC2 FLNA G6PC3 MARS1 BACH2 ZNHIT3 DNAJC21 SH2D1A CCNO COL13A1 DISP1 IL21 HYDIN MGP IL2RA MED25 GSN FOXH1 SLC35C1 PNP PRTN3 SP110 ARID1A MEFV NOD2 SERPINA1 NHP2 MED13 FRAS1 NBN MCIDAS FCGR2B KLHL40 BLM RAG1 RRAS TAP1 SNRPN ADGRG6 NADK2 SLC26A2 DDR2 ZAP70 MAGT1 FGFR1 GATA2 ALOX12B TMEM260 IFNGR1 SMAD4 SLC7A7 NFKB1 RB1 RARB APOE GATA6 DOCK8 AP3D1 SOS2 STING1 CASP10 B2M FLCN SRP54 ZEB2 TNFRSF13C FADD C4A TTC12 TAP2 KPTN STN1 LBR SNRPN DNAI2 MRAS COL2A1 RNF168 CHRM3 CCNO CHRNG RAC1 FGFR3 LGI4 ADA NUP88 TBX20 ODAD2 BCL10 FLNA SLC25A22 ELN SMO GBA TGFB2 NUMA1 RAG2 GATA4 DNAH9 SMARCA4 TNFRSF11A IRAK4 GUSB CD40LG SCNN1G SLC34A2 DHCR7 MIF GUSB KITLG KIAA0586 GRIP1 NSD2 DPF2 SLC35A1 EIF2AK4 GBA SPP1 NCF2 MKKS GAS2L2 MYH3 TBCD HLA-DRB1 PTPN22 RAC2 DDX6 CEP57 RELA PTCH1 DNAI2 ZFPM2 TPP2 RAG1 STAT6 IFT43 KANSL1 PURA LRRC56 DNAAF1 SCNN1G IL6ST ACP5 XIAP IL2RG FANCB IGLL1 AFF4 SCNN1B BCORL1 BTK PCNT MUC5B MRPS22 CDON COG4 PRKCD PTPN11 LRRC8A PHGDH BGN DVL3 PSAP HLA-DQA1 DYNC2I2 SLC35C1 PWAR1 SLC1A4 CR2 TBCE AGRN CTCF FBLN5 VANGL1 TRIP11 NKX2-5 TSC2 GFI1 TNFSF12 GAS8 MAPK1 SLC11A1 IFNG FBN1 DNAAF2 SCNN1A ACTA1 MESP2 HABP2 NDN SLCO2A1 FOXE3 IDS PANK2 FGFR1 CHD7 DNAAF3 NABP1 DNAAF3 CFI DPM2 OCA2 PCGF2 SFTPB MANBA TNNT2 SRP54 PLVAP CD79B SOX18 INVS DYNC2LI1 RARB CD19 FOXJ1 BMPR2 PIGN LEP PKD1L1 NHLRC1 GPC6 ITCH APC2 GATA6 SCNN1A SERPINA1 ATM GBA DNAJB13 CEP120 TNFRSF1A KIAA0319L CLCN7 NSD1 CACNA1C SPEF2 PIEZO2 DYNC2I1 NKX2-5 CREBBP TBX1 TNFSF12 COL6A2 EFEMP2 RAC2 PRSS2 TBL2 CFTR IL10 CFAP298 DONSON RSPH3 ABL1 EVC SDCCAG8 DNAH5 WIPF1 PARN PDGFRA TINF2 NCF2 TNFRSF1B CEP120 FOXP1 RFC2 NPHP3 BCOR GATA4 SNORD116-1 POLR2A NOP10 CCDC103 OFD1 DNAAF5 GATA6 IL6 POLA1 PDHA1 LMNA CD19 SFTPC SIX3 LTBP3 SMPD1 SMARCD2 RIPK4 CSF2RB PSMB8 HPS4 CRKL PTH1R EP300 RSPH1 PERP ATM ABCA3 DCTN4 CLCA4 CTSC STAT3 CCND1 POLR3H TRIP13 FCGR2A MST1 MUC5B DNAH5 CDON TRAF3IP2 IDS SRSF2 SLC18A3 TRIM28 CD79A PIK3R1 GRHL3 NOP10 HPS6 WNT3 RPGR DPP9 RAF1 SCNN1G CD79B RSPO2 BCL11B IVNS1ABP ACTL6A ZIC2 AFF4 SMAD3 ITGA7 CITED2 ERCC2 RAB3GAP2 TRIP11 IL23R SPINK1 TERC RTEL1 CYBA TSC2 CITED2 GLE1 GPC3 TGFB2 SCN9A RASGRP1 FGF8 SNRPN DYNC2I1 CARD11 POLE ICOS FADD NME8 HLA-DQB1 LMNA PGM3 EOGT CDCA7 WT1 SAMD9L SMC1A ICOS GLI3 SREBF1 CHAT RFX5 FOXF1 TDGF1 CHST14 CCDC40 SMARCE1 DCLRE1C ALMS1 TLR4 NCF1 RSPH3 CYBC1 SLC25A1 PTCH1 IL2RG B3GALT6 GLI2 GAS1 TNFRSF13B TET2 NRAS WAS ZMPSTE24 EHMT1 WRAP53 FAS WDR35 HPS1 NSMCE3 TGIF1 GLUL SH3KBP1 RFXAP CARMIL2 BCOR GTF2I TNFRSF1A MAGEL2 STAT4 HGSNAT SMAD3 FBLN5 MYO9A GTF2H5 NEK8 TERT RUNX1 RYR1 FAT4 CLPB RIPK1 COL13A1 JAGN1 CIITA TBX20 CSPP1 DNAAF4 CCR1 HK1 MINPP1 UBAC2 NFIX RNU4ATAC BIRC3 WNT4 IKBKB CD27 FAS NLRC4 SFTPA2 NDN AARS2 TGFB1 DHCR24 PIK3R1 HYLS1 CREBBP CHRND ALPL ITK VHL CCDC103 GREB1L ERAP1 FARSB RAB27A NAGLU ODAD1 CTC1 ZCCHC8 TRMT1 SNRPN CEP55 PRPS1 DLL3 LYST KEAP1 GBA JAG1 NME8 MYPN STX1A TNFRSF13C FIP1L1 HERC2 ELANE CORO1A SYT2 CCDC39 CFTR GPC4 ITGA8 ICOS RFXANK KLRC4 DNASE1 DICER1 EP300 PRKAR1A MAGEL2 MLXIPL LZTR1 PIGN BMP15 HLA-DRB1 COL2A1 ADAMTS2 WDR19 ALG12 AK2 CD55 HLA-DRB1 GAS8 DKC1 NKX2-1 DLK1 SCN10A DYNC2I2 HELLPAR LMOD3 FLCN WT1 NODAL LRBA ELANE GTF2E2 SGSH GPR35 BAZ1B SFTPB TRAPPC4 PLP1 CACNA1B RSPH4A FSHR TERT CCDC65 WT1 TERC MID1 NR2F2 DHCR24 ERCC3 WASHC5 NIPAL4 LFNG VPS33A CD19 RLIM GALNS OSTM1 XIAP ASAH1 HLA-B DISP1 NAA10
HP:0002094: Dyspnea
Genes 438
TLL1 MAT2A TRNK DSP CHRNA1 LMNA CSPP1 TRPV6 AIFM1 NPM1 ZBTB16 EFTUD2 TGFBR2 LAMA3 SFTPA1 SH2B3 IKZF1 ND1 DNAJB6 BTNL2 COPA KCNJ6 USP9X GAA MEGF10 KRT16 GATA6 GATA4 FGFR2 APOB CASR MYL3 ZIC3 NKX2-1 PLEC PURA AIMP2 DCTN1 DOK7 KCNA1 SCNN1B SCN4A CDC6 LAMB2 DYNC2LI1 RARA ALAS2 VAPB IRF5 PMM2 STT3B ADNP SCO2 MUSK MYH6 ABCA3 TSC1 ATRX FOXF1 CHRNA1 ORC4 FOXP3 TERC USP9X CAV1 ND4 CBL COLQ COL2A1 EPHB4 FGFR1 NOD2 STAT5B MAPT COL2A1 TARDBP CREBBP FBP1 ACTA2 BMPER SLC35A1 SOX9 MATR3 CCR6 PRRT2 MFAP5 GLA RELN CHRNE AK9 SLC5A7 CHRNB1 COL13A1 CSF2RB SCN4A DISC1 TRNV PRPH FGFR2 ACVRL1 PYGM TRMU RNF13 CHRNE NDUFB11 SLC25A4 DNA2 NAGS ACADVL MRPL3 VPS33A TRPM4 NGLY1 MYH11 NEFH TRIP11 CRELD1 SCN5A SCO2 CAV1 ND5 ORC6 PUF60 SMAD4 SMPD1 CYB5R3 GATA6 XYLT1 KAT6A KIF20A EDA SNRPN RPS28 GNAI3 CCNF TTN CDC45 ZMPSTE24 STN1 PRKCSH SBDS TRNN VCP MYL2 VCP TBX20 CSF2RA ND3 TRNK GBA ISCU TGFB2 NUMA1 GATA4 TERT SCNN1G MMACHC SFTPC ATP11A NKX2-5 HBB EIF2AK4 SPP1 CITED2 LDLRAP1 MMAA MYBPC3 ERBB4 DAO ZFPM2 ALMS1 CHRND ORC1 PURA SCN4A TUBB4A SFTPC ALDH7A1 LDLR DNASE1L3 IFT81 MUC5B MARS1 SSR4 EPHA4 CHCHD10 CHMP2B ENG MPC1 NPPA CCN2 ARX MGME1 DPM2 TSC2 PLCB4 AGRN TAF15 NUP214 TRIP11 NKX2-5 TSC2 MMUT PCSK9 OPTN POLG2 JPH2 DBH SCN1B TERT SLC18A3 FOXE3 TRNL1 RTEL1 PRKG1 OTX2 NABP1 DNAAF3 DPM2 DNAJC21 NAGS GALC SFTPB LIFR TNNT2 RUNX2 GLE1 HLCS ACTC1 VAMP1 TRNE BMPR2 ADAMTS13 ND2 UNC13A SLC25A1 ELN SFTPA2 TBK1 GATA6 SFTPB SCNN1A SERPINA1 PFN1 RAPSN LYRM4 CHRND MYH11 CRLF1 EOMES SLC2A10 NDUFB8 GBA MMUT POMT1 COQ7 ERF VCL UBE3B ETFDH SCN5A PON2 CFTR FLNC SDCCAG8 WIPF1 PARN HCCS BCOR GYG1 LAMC2 RRM2B ITGA3 GATA6 GTPBP3 FIG4 NEB TWNK STAT5B SFTPC SURF1 LTBP3 CSF2RB COL1A2 ABCA3 TBC1D24 GAA STAT4 SIK1 C9ORF72 DNA2 MUC5B TK2 SRSF2 TRNS1 DPP9 SMAD3 CITED2 CFAP410 FLNC STAT3 TNNI3 PRKAR1A CHRNE LOX TNNC1 TRAK1 ORC6 CYB5R3 CHRNB1 EDN1 FAM20C PON1 HNRNPA1 FBP1 HBB POLG STT3B DMPK SLC12A3 TRNE FBN1 SETBP1 NDUFAF3 ATXN2 PRRX1 TRNW ETFB RNU4ATAC SFTPC CNTNAP1 HLA-B CHAT PIGT TSC1 STX16 CLCNKB PGM1 CDT1 COX7B SLC25A1 B3GALT6 RPS26 IRF2BP2 TRMT5 TET2 ASXL1 ABCG5 WAS LGI4 PSAP PNKD SURF1 LRP4 PRRX1 TET2 GLT8D1 MGME1 ASAH1 DHX16 SRP54 GBA LAMB3 MYO9A MMAB IL1RN DSC2 ACADM IRAK1 RUNX1 TGFBR1 CYB5A COL13A1 ANG GNAS GMNN KLHL7 TBX20 ABCA3 ANXA11 NDUFS2 EPOR IFT52 UBQLN2 SFTPA2 FAM13A PON3 SLC52A3 KRT17 KRT6A ADCY6 HLA-DRB1 TET2 BMPER CPT2 MYLK PML MYPN TGFB3 AGRN SLC25A3 TBX4 FIP1L1 JAK2 KRT6B NEK1 SYT2 TBL1XR1 TREM2 GNAS ND6 FGFR2 EP300 MAPT ORC1 PPARGC1A DPM1 FGFR2 SQSTM1 HLA-DRB1 SOD1 HLA-DRB1 NKX2-1 TLL1 SNAP25 GNAS TERT FUS ATP6 ABCG8 NR2F2 COA8 ETFA VPS33A SERPING1 BTNL2 CHAT PRKAR1A
Protein Mutations 0
SNP 0