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) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT00337467 (13) NCT00098293 (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) NCT01614470 (10) NCT01423812 (10) NCT00358917 (10) NCT04415268 (10) NCT00511381 (10) NCT03911713 (9) NCT02742519 (9) NCT02725567 (9) NCT03045523 (9) NCT00438152 (9) NCT01102972 (9) NCT02971839 (9) NCT00740064 (9) NCT02605954 (9) NCT00379405 (9) NCT01562847 (9) NCT02616783 (9) NCT04272242 (9) NCT02445053 (9) NCT00242840 (9) NCT02724527 (9) NCT04209465 (9) NCT04585737 (8) NCT02082977 (8) NCT00112775 (8) NCT00383318 (8) NCT03659214 (8) NCT03631732 (8) NCT00118898 (8) NCT01888562 (8) NCT02633189 (8) NCT03565692 (8) NCT03843775 (8) NCT01161576 (8) NCT02167165 (8) NCT00344461 (8) NCT04519398 (7) NCT02154490 (7) NCT03232892 (7) NCT00650832 (7) NCT04549025 (7) NCT00440947 (7) NCT02784639 (7) NCT03572140 (6) NCT01237444 (6) NCT00532168 (6) NCT01102569 (6) NCT04424368 (6) NCT01414985 (6) NCT00525733 (6) NCT02308332 (6) NCT01487265 (6) NCT00049933 (5) NCT02389920 (5) NCT03351699 (5) NCT04197934 (5) NCT02272998 (5) NCT00122590 (5) NCT04204330 (5) NCT02450591 (5) NCT01173029 (5) NCT02675829 (5) NCT02858921 (5) NCT01914484 (5) NCT00187733 (5) 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) 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) NCT01282151 (3) NCT03058094 (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) NCT02282267 (2) NCT02684591 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT00525473 (2) NCT03333343 (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) NCT00834665 (2) NCT00969137 (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) NCT00005541 (2) NCT01242813 (2) NCT02906020 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT03720665 (2) NCT04309019 (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) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT00226551 (2) NCT03239145 (2) NCT04511533 (2) NCT02191891 (2) NCT04586270 (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) NCT03977194 (2) NCT03991013 (2) NCT02500927 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (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) 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) NCT01841463 (2) NCT04429542 (2) NCT03865511 (2) NCT01218477 (2) NCT03205267 (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) 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) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (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) NCT01998295 (2) NCT03586453 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (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) NCT00953706 (2) NCT02346955 (2) NCT03795688 (2) NCT02011945 (2) NCT00857675 (2) NCT00028262 (2) NCT02355431 (2) NCT02495233 (2) NCT04575415 (2) NCT03468985 (2) NCT00230087 (2) NCT02017600 (2) NCT04146298 (2) 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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) NCT01074398 (1) NCT04500717 (1) NCT03134131 (1) NCT01004497 (1) NCT02455167 (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) NCT00867139 (1) NCT03363139 (1) NCT01936051 (1) NCT02341131 (1) NCT00037076 (1) NCT00582907 (1) NCT02169869 (1) NCT03284684 (1) NCT04204473 (1) NCT01074359 (1) NCT01400191 (1) NCT04530565 (1) NCT03530319 (1) NCT04146402 (1) NCT02658682 (1) NCT04241835 (1) NCT03133234 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02463435

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Effect of Nutritional Intervention and Olive Oil in Severe Obesity: Randomized Controlled Trial

Obesity is a worldwide epidemic with increasing prevalence, specially severe obesity (Body Mass Index (BMI) ≥ 35 kg/m2). It is a multifactorial disease that involves genetic and environmental factors that lead to increased mortality from cardiovascular disease, diabetes, cancer, among others and impairs life quality. Most research on severe obesity focuses on surgical alternatives and their results, thus this clinical trial aims to evaluate the effect of a non-pharmacological approach based on nutritional intervention and supplementation with a functional food, the olive oil. It will analyze the effectiveness of interventions on: weight loss, improvements on body composition and inflammatory profile (TNF-alfa, interleucins 1, 6 and 10, adiponectin), insulin resistance and serum lipids control, changing eating habits and physical activity practice, modification on bone mineral density and sarcopenia, and reduction of cardiovascular risk and other diseases. Also, it will be investigated the influence of polymorphisms (Pro12Ala of PPAR-γ gene, -174G>C of IL6 gene e Trp64Arg of ADRB3 gene) on nutritional intervention effectiveness with and without olive oil. This research looks for improving severely obese patient's care and contributing to effective results by reducing costs and risk treatment. The investigators believe that this informations will contribute significantly to the scientific field, expanding the knowledge about severe obesity.

NCT02463435 Severe Obesity
MeSH:Obesity Obesity, Morbid
HPO:Obesity

3 Interventions

Name: Nutritional intervention

Description: Conventional treatment (Nutritional intervention) consists of prescription of individualized food plan to reduce 5 to 10% of initial body weight, nutritional counseling for comorbidities and promoting healthy eating habits and physical activity.
Type: Behavioral
Group Labels: 1

Nutritional intervention

Name: Nutritional intervention plus olive oil

Description: Nutritional intervention consists of prescription of individualized food plan to reduce 5 to 10% of initial body weight, nutritional counseling for comorbidities and promoting healthy eating habits and physical activity. Additionally, dietary supplementation with extra virgin olive oil (52 mL daily) will be held, divided in four (4) sachets per day, two (2) at lunch and two (2) at dinner.
Type: Other
Group Labels: 1

Nutritional intervention plus olive oil

Name: Olive oil

Description: Patients will be instructed to maintain habitual food consumption and consume 52 mL of extra virgin olive oil daily in four (4) sachets per day, two (2) at lunch and two (2) at dinner.
Type: Dietary Supplement
Group Labels: 1

Olive oil


Primary Outcomes

Description: Measurements of weight, arm circumference and Body Mass Index (BMI) will be evaluated to assess anthropometric change.

Measure: Anthropometric measurements change

Time: Baseline, week 12

Description: Body fat mass (BFM), body fat percentage (%BF) and body mass density (BMD) will be evaluated to assess body composition change. BFM and %BF will be assessed using multifrequency bioelectrical impedance analysis (BIA) and dual energy X-ray absorptiometry (DXA) and BMD will be assessed using DXA.

Measure: Body composition change

Time: Baseline, week 12

Secondary Outcomes

Description: TNF-alfa, interleucin 6 (IL6), IL1, IL10, adiponectin, C-reactive protein (CRP)

Measure: Change in inflammation parameters

Time: Baseline, week 12

Description: Lipid profile (total cholesterol, LDL-c, HDL-c, VLDL-c), insulin resistance (HOMA-IR, glycated hemoglobin), fasting glycaemia, hemogram

Measure: Change in metabolic parameters

Time: Baseline, week 12

Description: Creatinine, urea and uric acid

Measure: Change in kidney function

Time: Baseline, week 12

Description: AST and ALT

Measure: Change in liver function

Time: Baseline, week 12

Description: TSH, T4 and parathyroid hormone

Measure: Change in thyroid function

Time: Baseline, week 12

Description: Vitamin D, vitamin B12 and folic acid

Measure: Change in vitamins

Time: Baseline, week 12

Description: Iron, calcium, sodium, potassium and zinc

Measure: Change in minerals

Time: Baseline, week 12

Measure: Change in cardiovascular risk using Global Risk Score (GRS)

Time: Baseline, week 12

Measure: Change in cardiovascular risk using Framingham Risk Score (FRS)

Time: Baseline, week 12

Measure: Change in cardiovascular risk using heart rate variability (HRV)

Time: Baseline, week 12

Measure: Change in cardiovascular risk using Homocystein level

Time: Baseline, week 12

Description: Difference in responses between intervention groups for anthropometric measurements (weight, arm circumference and body mass index) and body composition variables (body fat mass and body fat percentage) according to this polymorphism

Measure: Polymorphism Pro12Ala of Peroxisome Proliferator-Activated Receptor Alfa (PPAR-alfa)

Time: Baseline, week12

Description: Difference in responses between intervention groups for anthropometric measurements (weight, arm circumference and body mass index) and body composition variables (body fat mass and body fat percentage) according to this polymorphism

Measure: PolymorphismTrp64Arg of Beta-3 Adrenergic Receptor (ADRB3) gene

Time: Baseline, week12

Description: Difference in responses between intervention groups for anthropometric measurements (weight, arm circumference and body mass index) and body composition variables (body fat mass and body fat percentage) according to this polymorphism

Measure: Polymorphism -174G>C of Interleukin 6 (IL6) gene.

Time: Baseline, week12

Measure: Change in physical activity practice using Global Physical Activity Questionnaire

Time: Baseline, week 12

Measure: Change in physical activity practice using accelerometry

Time: Baseline, week 12

Measure: Change in food intake using Food Frequency Questionnaire

Time: Baseline, week 12

Measure: Change in food intake using 24 hour recall

Time: Baseline, week 12

Description: Change in the following variables: bone density using DXA, falls and fractures and sun exposure

Measure: Change in bone health parameters

Time: Baseline, week 12

Measure: Change in obesity sarcopenia using muscle mass (evaluated using DXA)

Time: Baseline, week 12

Measure: Change in obesity sarcopenia using handgrip strength

Time: Baseline, week 12

Measure: Change in sarcopenia using usual gait speed

Time: Baseline, week 12

Description: It will be evaluated through changes in food consumption (food frequency questionnaire)

Measure: Adherence to nutritional intervention

Time: Baseline, week 12

Description: It will be evaluated through attendance to the clinic visits

Measure: Adherence to the health service

Time: Baseline, week 12

Measure: Change in symptoms of anxiety and depression using Hospital Anxiety and Depression Scale

Time: Baseline, week 12

Measure: Change in symptoms of binge eating disorderusing Binge Eating Disorder Scale

Time: Baseline, week 12

Measure: Change in musculoskeletal pain using Visual Analog Scale

Time: Baseline, week 12

Measure: Change in musculoskeletal pain using Nordic Musculoskeletal Questionnaire

Time: Baseline, week 12

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There are 2 SNPs

SNPs


1 P12A

Also, it will be investigated the influence of polymorphisms (Pro12Ala of PPAR-γ gene, -174G>C of IL6 gene e Trp64Arg of ADRB3 gene) on nutritional intervention effectiveness with and without olive oil. --- Pro12Ala ---

Polymorphism Pro12Ala of Peroxisome Proliferator-Activated Receptor Alfa (PPAR-alfa). --- Pro12Ala ---


2 W64R

Also, it will be investigated the influence of polymorphisms (Pro12Ala of PPAR-γ gene, -174G>C of IL6 gene e Trp64Arg of ADRB3 gene) on nutritional intervention effectiveness with and without olive oil. --- Pro12Ala --- --- Trp64Arg ---



HPO Nodes


HPO:
HP:0001513: Obesity
Genes 490
NR2E3 WT1 LMNA TBX3 POGZ PROK2 DCC MID2 SDCCAG8 ZNF41 RAB39B LIMK1 CNKSR2 PRPF4 PDE11A RP2 USP27X BBS10 CTNNB1 KIDINS220 FGFR3 XYLT1 PDE6B TOPORS GP1BB BBS7 GATA4 ARL2BP KCNJ11 MLXIPL HS6ST1 CEP290 GHRL EGF TAF1 PRKAR1A SEC24C PROM1 BBS12 POMC NPHP1 CARTPT C8ORF37 APOE DMD ZBTB20 BBS2 SYNE2 BLK UBE3A CCDC141 TMEM43 FTSJ1 HCFC1 FEZF1 SOX2 CACNA1S CDH23 BBS7 EMD ELN IFT172 CEL MAGEL2 TMEM67 JMJD1C UFD1 NIN ARMC5 CREBBP MKKS PDE6A BAP1 FHL1 GTF2I NEUROD1 USH2A SIN3A KIF7 RBMX PCARE CXORF56 EXOC6B MCM3AP LEP TBX1 HERC2 MED12 PDX1 OTX2 USP9X ARL6 LZTFL1 PWAR1 ADRB3 BBS9 RPE65 REEP6 RLBP1 HNF1A ERMARD TTC8 POMGNT1 INPP5E WDPCP CUL4B SAG SDCCAG8 SDC3 HESX1 KMT2A BLK RAD21 SEMA4A MOG ATP6AP2 CEP164 ARL6 BBS12 POMC MAN1B1 CTSH ALMS1 HSD11B1 NPAP1 CDHR1 RERE BLM HCRT ARNT2 FLRT3 BBS4 ROM1 SNORD116-1 ARHGEF6 ZNF711 ZNF513 GDI1 GNAS VPS13B RP1 FTO DDX6 PCNT POU3F4 TULP1 DUSP6 MC4R PNPLA6 SYP CREBBP SPATA7 LMNA GABRA3 H6PD CA4 NIPBL GNAS MKRN3 FMR1 SNORD115-1 RP9 MC3R MKS1 BBS2 PHF6 SUFU GNAS-AS1 WDR11 TSPAN7 MERTK GNAS MTTP PRPF6 NR0B2 GNAS BAP1 PRKAR1A MYT1L HNF4A RAI1 DYNC2I2 RPGR BBS9 SMARCB1 NKAP RAB23 GUCA1B LAS1L ZNF365 ALMS1 PAX6 HDAC8 ATRX TRAF3IP1 HDAC8 KIAA1549 CNNM2 PROKR2 MOG SEMA3A BBS5 PAX6 LEPR LZTFL1 SYNE1 SNRNP200 MKKS SMC1A PRMT7 CNGB1 MEGF8 CLRN1 TTC8 MAPK8IP3 TRAF7 AKT2 SETD2 IQSEC2 PCNT PPARG P2RY11 HESX1 BBS10 NDN POMC RAB23 MECP2 SOX10 PRPH2 PTCHD1 KCNJ18 BBS2 INS ACADVL LIPE KMT2D DHDDS WNT4 HLA-DQB1 MKRN3-AS1 KLF11 IDH3B TUB BBIP1 CCDC141 FRMPD4 CNGA1 ARL13B ADCY3 ACSL4 SNRPN PHF21A GNAS GNAS TBX3 STX16 ARL3 SH2B1 TUB SMO HUWE1 SHOX CYP7A1 NEK2 PRPF3 PAK3 RDH12 TCF20 USP8 IFT172 BBIP1 FGF8 ADNP IFT27 CYP19A1 ARHGEF18 RREB1 ABCA4 SLC10A7 PDGFB LRAT ARVCF PKDCC IQSEC2 MTFMT CLIP2 C8ORF37 SIM1 TBX1 BEST1 PIGT SETD5 PDSS1 EHMT1 SPG11 SCAPER ZNF408 RPS6KA3 SIM1 SH2B1 BAZ1B BRAF SLC25A4 P4HTM CEP290 C8ORF37 APPL1 UPF3B ENPP1 TRIM32 AFF4 SMARCE1 RFC2 AIP RNPC3 PRCD DHX38 UCP3 IFT172 BBS5 SLC7A14 PDE4D ATRX WT1 FAM161A ANOS1 SHANK3 IFT172 FGFR1 ZNF711 MC4R LEP DLG3 NSMF PNKP GNAS MAGEL2 RPS6KA3 KIZ SLC7A7 ADRB2 RAI1 MEGF8 AFF4 HDAC8 FXR1 GNAS CLCN4 PSMD12 PHF6 OFD1 PAX4 TRIP12 MAGEL2 GABRD EP300 TRAPPC9 SOX3 PHIP PTEN KCNAB2 WAC NDNF FGF17 ARMC5 HDAC4 SH3KBP1 IMPG2 LARS2 HACE1 ADNP AGRP LEPR PROK2 IL17RD AGBL5 USP8 TERT BPTF THOC2 PIK3CA SKI AHR TRAPPC9 CRX CRB1 PRMT7 KISS1R NF2 COMT TBX1 IMPDH1 SMAD4 BBS1 GTF2IRD1 EIF2S3 BBS1 PRPF31 PCSK1 KLHL7 DEAF1 COL10A1 AKT2 SMC3 CCDC28B CUL4B ABCC8 FLII DPYD PDE4D NRL PDE6G RBP3 MRAP2 AGTR2 VPS13B KDM6A IPW IGFALS PROKR2 MECP2 XRCC4 TRIM32 FGFR1 SPRY4 MKS1 ALG13 HGSNAT CERKL AKT1 RHO IDH3A RP1L1 EHMT1 EP300 PWRN1 IGF1 TACR3 SIN3A EYS EIF2S3 BBS4 IL1RAPL1 LAS1L IFT88 ARL6 CREBBP AHI1 CHD7 ELN CEP19 ARL6 PRPF8 SLC9A7 PCSK1 MAK SRY DNMT3A HACE1 HLA-DRB1 TTC8 TNFSF4 DYRK1B FOXP1 KIDINS220 OFD1 TBL2 BDNF RGR FSCN2 HIRA GHR NTRK2 IQSEC2 IFT74 ZNF81 XYLT1 ALB PRDM16 IFT140 IFT27 MAN1B1 ARX PDE4D SIM1 GCK IGF1R CANT1 SH2B1
Protein Mutations 3
G20210A P12A W64R