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BMIQ11
MCID: BDY004
MIFTS: 82

Body Mass Index Quantitative Trait Locus 11 (BMIQ11)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases
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Aliases & Classifications for Body Mass Index Quantitative Trait Locus 11

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MalaCards integrated aliases for Body Mass Index Quantitative Trait Locus 11:

IMPROVED
Name: Body Mass Index Quantitative Trait Locus 11 57 28 38
Obesity 57 11 73 28 53 5 41 43 14 38 16 71 31 33
Leanness, Inherited 57 28 5
Obesity, Early-Onset, Susceptibility to 57 5
Obesity, Severe, and Type Ii Diabetes 57 5
Obesity, Susceptibility to, Bmiq11 57 12
Obesity , Susceptibility to 28 5
Obesity, Susceptibility to 57 38
Obesity, Mild, Early-Onset 57 5
Obesity, Association with 57 5
Obesity, Late-Onset 57 5
Obesity, Severe 57 5
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified 33
Obesity, Early-Onset 57
Simple Obesity Nos 33
Obesity Bmiq11 57
Excess Fat 33
Adiposis 33
Bmiq11 57

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases
Anatomical: Endocrine diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33


External Ids:

Disease Ontology 11 DOID:9970
OMIM® 57 300306 601665
ICD9CM 34 278.00
MeSH 43 D009765
NCIt 49 C159658
SNOMED-CT 68 5476005
ICD10 31 E66 E66.0 E66.9
SNOMED-CT via HPO 69 414915002 414916001
UMLS 71 C0028754
Sources

Summaries for Body Mass Index Quantitative Trait Locus 11

About this section

MedlinePlus: 41 Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Obesity happens over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. Obesity increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you have obesity, losing even 5 to 10% of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

MalaCards based summary: Body Mass Index Quantitative Trait Locus 11, also known as obesity, is related to leptin deficiency or dysfunction and type 2 diabetes mellitus, and has symptoms including high weight, symptoms and obesity, metabolically benign. An important gene associated with Body Mass Index Quantitative Trait Locus 11 is UCP3 (Uncoupling Protein 3), and among its related pathways/superpathways are Beta-2 adrenergic-dependent CFTR expression and Glucose / Energy Metabolism. The drugs Hydrocortisone and Hydrocortisone succinate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and heart, and related phenotypes are obesity and decreased resting energy expenditure

Disease Ontology: 11 An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has material basis in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.

UniProtKB/Swiss-Prot: 73 A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.

More information from OMIM: 300306 601665
Sources

Related Diseases for Body Mass Index Quantitative Trait Locus 11

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Diseases in the Body Mass Index Quantitative Trait Locus 11 family:

Body Mass Index Quantitative Trait Locus 9 Body Mass Index Quantitative Trait Locus 8
Body Mass Index Quantitative Trait Locus 1 Body Mass Index Quantitative Trait Locus 2
Body Mass Index Quantitative Trait Locus 3 Body Mass Index Quantitative Trait Locus 4
Body Mass Index Quantitative Trait Locus 10 Body Mass Index Quantitative Trait Locus 7
Body Mass Index Quantitative Trait Locus 5 Body Mass Index Quantitative Trait Locus 6
Body Mass Index Quantitative Trait Locus 12 Body Mass Index Quantitative Trait Locus 13
Body Mass Index Quantitative Trait Locus 14 Body Mass Index Quantitative Trait Locus 15
Body Mass Index Quantitative Trait Locus 18 Body Mass Index Quantitative Trait Locus 19
Body Mass Index Quantitative Trait Locus 20

Diseases related to Body Mass Index Quantitative Trait Locus 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2477)
# Related Disease Score Top Affiliating Genes
1 leptin deficiency or dysfunction 34.5 UCP3 PPARG POMC MC4R GHRL CARTPT
2 type 2 diabetes mellitus 34.2 UCP3 PRMT7 PPARG POMC NR0B2 MIR143
3 diabetes mellitus 33.5 UCP3 PPARG POMC MIR143 MC4R GHRL
4 abdominal obesity-metabolic syndrome 1 33.4 PPARG GHRL ADRB3
5 prediabetes syndrome 33.2 UCP3 PPARG MC4R GHRL ADRB3
6 glucose intolerance 33.1 PPARG POMC GHRL ENPP1 ADRB3
7 hypertension, essential 33.0 PPARG POMC MIR143 MC4R GNAS GHRL
8 eating disorder 33.0 POMC MC4R GHRL AGRP
9 lipid metabolism disorder 33.0 PPARG POMC GHRL ADRB3 ADRB2
10 prader-willi syndrome 32.9 POMC MC4R GHRL AGRP
11 gestational diabetes 32.8 PPARG GHRL ENPP1 ADRB3
12 pseudohypoparathyroidism, type ia 32.7 POMC MC4R GNAS
13 hyperinsulinism 32.7 UCP3 PPARG MC4R GHRL
14 overnutrition 32.4 PPARG POMC MIR143 MC4R GHRL AGRP
15 migraine with or without aura 1 32.4 POMC POLG BRCA2 ADRB2
16 sleep apnea 32.4 PPARG MC4R GHRL
17 adult syndrome 32.2 PPARG POMC DNMT3A
18 alcohol dependence 32.1 PPARG POMC GHRL CARTPT
19 anorexia nervosa 32.1 POMC MC4R GHRL AGRP
20 hyperandrogenism 31.9 PPARG POMC MC4R
21 ovarian disease 31.3 PPARG POMC MIR143 BRCA2
22 multiple endocrine neoplasia, type i 31.3 POMC GNAS GHRL
23 hyperthyroidism 31.3 POMC GNAS GHRL
24 acromegaly 31.1 POMC GNAS GHRL
25 osseous heteroplasia, progressive 30.9 GNAS ENPP1 BRCA2
26 dowling-degos disease 1 30.5 POMC GNAS
27 nelson syndrome 30.0 PPARG POMC
28 body mass index quantitative trait locus 19 11.9
29 body mass index quantitative trait locus 20 11.9
30 body mass index quantitative trait locus 8 11.9
31 body mass index quantitative trait locus 12 11.9
32 body mass index quantitative trait locus 14 11.9
33 body mass index quantitative trait locus 4 11.9
34 body mass index quantitative trait locus 9 11.8
35 body mass index quantitative trait locus 18 11.8
36 body mass index quantitative trait locus 7 11.8
37 body mass index quantitative trait locus 10 11.8
38 leptin receptor deficiency 11.8
39 obesity, early-onset, with adrenal insufficiency and red hair 11.6
40 obesity-hypoventilation syndrome 11.6
41 cohen syndrome 11.5
42 intellectual developmental disorder, x-linked, syndromic, wilson-turner type 11.5
43 abdominal obesity-metabolic syndrome 3 11.5
44 mehmo syndrome 11.5
45 proprotein convertase 1/3 deficiency 11.5
46 abdominal obesity-metabolic syndrome 4 11.5
47 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
48 morbid obesity and spermatogenic failure 11.5
49 momo syndrome 11.4
50 chops syndrome 11.4

Graphical network of the top 20 diseases related to Body Mass Index Quantitative Trait Locus 11:



Diseases related to Body Mass Index Quantitative Trait Locus 11
Sources

Symptoms & Phenotypes for Body Mass Index Quantitative Trait Locus 11

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Human phenotypes related to Body Mass Index Quantitative Trait Locus 11:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 30 HP:0001513
2 decreased resting energy expenditure 30 HP:0012340
3 increased waist to hip ratio 30 HP:0031819

Clinical features from OMIM®:

300306 601665 (Updated 24-Oct-2022)

UMLS symptoms related to Body Mass Index Quantitative Trait Locus 11:


high weight; symptoms; obesity, metabolically benign; monogenic obesity

GenomeRNAi Phenotypes related to Body Mass Index Quantitative Trait Locus 11 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 AGRP DNMT3A GHRL GNAS MC4R POMC

MGI Mouse Phenotypes related to Body Mass Index Quantitative Trait Locus 11:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.4 ADRB2 ADRB3 AGRP BBIP1 BRCA2 CARTPT
2 growth/size/body region MP:0005378 10.32 ADRB2 ADRB3 AGRP BBIP1 BRCA2 CARTPT
3 nervous system MP:0003631 10.31 ADRB2 AGRP BBIP1 BRCA2 DNMT3A ENPP1
4 adipose tissue MP:0005375 10.31 ADRB2 ADRB3 AGRP CARTPT DNMT3A ENPP1
5 endocrine/exocrine gland MP:0005379 10.13 ADRB2 ADRB3 BBIP1 BRCA2 CARTPT DNMT3A
6 liver/biliary system MP:0005370 10.11 ADRB2 AGRP ENPP1 GNAS MC4R NR0B2
7 muscle MP:0005369 10.08 ADRB2 DNMT3A ENPP1 GNAS POLG PPARG
8 neoplasm MP:0002006 10.07 BRCA2 GNAS MC4R POLG POMC PPARG
9 no phenotypic analysis MP:0003012 10.05 ADRB2 AGRP GNAS MC4R POLG POMC
10 cardiovascular system MP:0005385 10 ADRB2 CARTPT ENPP1 GLDC GNAS MC4R
11 behavior/neurological MP:0005386 10 ADRB2 ADRB3 AGRP BBIP1 BRCA2 CARTPT
12 skeleton MP:0005390 9.77 ADRB2 BBIP1 BRCA2 CARTPT DNMT3A ENPP1
13 integument MP:0010771 9.32 ADRB2 BBIP1 BRCA2 ENPP1 GNAS POLG
Sources

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 11

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Drugs for Body Mass Index Quantitative Trait Locus 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 942)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
2
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
3
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
4
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
5
Lactitol Approved, Investigational Phase 4 585-86-4, 585-88-6 157355 493591
6
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
7
Sildenafil Approved, Investigational Phase 4 139755-83-2, 171599-83-0 5212 135398744
8
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6 9578005
9
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
10
Indapamide Approved Phase 4 26807-65-8 3702
11
Insulin aspart Approved Phase 4 116094-23-6 16132418
12
Tolnaftate Approved, Investigational, Vet_approved Phase 4 2398-96-1 5510
13
Erythromycin Approved, Investigational, Vet_approved Phase 4 55-31-2, 114-07-8 12560
14
Insulin lispro Approved Phase 4 133107-64-9 16132438
15
Hydroxychloroquine Approved Phase 4 118-42-3 3652
16
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
17
Cyproterone acetate Approved, Investigational Phase 4 427-51-0 9880
18
Phentermine Approved, Illicit Phase 4 122-09-8 4771
19
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
20
Losartan Approved Phase 4 114798-26-4 3961
21
Rosiglitazone Approved, Investigational Phase 4 122320-73-4, 155141-29-0 77999
22
Coal tar Approved Phase 4 8007-45-2
23 Tomato Approved Phase 4
24
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
25
Epitestosterone Approved, Experimental, Investigational Phase 4 481-30-1, 58-22-0 5408 10204 6013
26
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
27
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
28
Loperamide Approved Phase 4 53179-11-6 3955
29
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
30
Calcium carbonate Approved, Investigational Phase 4 471-34-1
31
Tocopherol Approved, Investigational Phase 4 1406-66-2
32
Oxytocin Approved, Vet_approved Phase 4 50-56-6 53477758 439302
33
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
34
Polyestradiol phosphate Approved Phase 4 28014-46-2
35
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
36 Orange Approved Phase 4
37
Acetaminophen Approved Phase 4 103-90-2 1983
38
Infliximab Approved Phase 4 170277-31-3
39
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
40
Apixaban Approved Phase 4 503612-47-3 10182969
41
Ethinylestradiol Approved Phase 4 57-63-6 5991
42
Drospirenone Approved Phase 4 67392-87-4 68873
43
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
44
Fenofibrate Approved Phase 4 49562-28-9 3339
45
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
46
Moxifloxacin Approved, Investigational Phase 4 186826-86-8, 354812-41-2, 151096-09-2 152946
47
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
48
Atorvastatin Approved Phase 4 134523-00-5 60823
49
Glyburide Approved Phase 4 10238-21-8 3488
50
Desflurane Approved Phase 4 57041-67-5 42113

Interventional clinical trials:

(show top 50) (show all 8896)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Effects of Laying Early (Between 12 and 16) a Gastric Band on the Prevention of Morbid Obesity in Late Adolescence. Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
2 Prevention and Control of Obesity in Primary School Children in Tehran Unknown status NCT02082080 Phase 4
3 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
4 The Effect of Moxonidine and Regression of Early Target Organ Damage in Young Subjects With Abdominal Obesity and Hypertension: a Randomised, Double Blind, Active Comparator Clinical Trial Unknown status NCT01360710 Phase 4 Moxonidine;Irbesartan
5 Effect and Safety of Benaglutide or Metformin in Patients With Simple Obesity Who Have Inadequate Weight Control :A Randomized, Open, Controlled and Single-site Clinical Trail Unknown status NCT03593668 Phase 4 Metformin;Benaglutide
6 Effect of Acarbose and Vildagliptin on Visceral Fat Distribution in Overweight and Obesity Patients With Newly Diagnosed Type 2 Diabetes Mellitus: A Randomized Control Study Unknown status NCT02999841 Phase 4 Acarbose;Vildagliptin
7 Treatment of Obesity With Topiramate in Patients With Polycystic Ovary Syndrome: a Double-blind Placebo-controlled Clinical Trial Unknown status NCT04453306 Phase 4 Topiramate;Placebo
8 The Effect of Obesity in Dexmedetomidine Metabolic Clearance Unknown status NCT02557867 Phase 4 Dexmedetomidine
9 Comparing Dexlansoprazole With Double-dose Lansoprazole to Achieve Sustained Symptomatic Response in Overweight and Obesity Patients With Reflux Esophagitis in Los Angeles Grades A & B Unknown status NCT02759393 Phase 4 Dexlansoprazole;Lansoprazole
10 Assessment of the Effect of Moxonidine and Diet on Cardiac, Renal and Endothelial Function in Young Subjects With Abdominal Obesity Unknown status NCT01180231 Phase 4 Moxonidine (Physiotens)
11 Double Blinded Randomised Trial Comparing Metformin Versus Placebo in NASH Patients Receiving Bariatric Surgery for Obesity Unknown status NCT00134303 Phase 4 Metformin
12 Effect of Saxagliptin on Body Fat , Glucose and Beta Cell Function in Patients With Newly Diagnosed Pre-Diabetes Mellitus and Obesity Unknown status NCT01960205 Phase 4 Saxagliptin;saxagliptin;metformin
13 The Therapeutic Effect of Catgut Embedding in Obesity-A Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02276235 Phase 4
14 Double-blind Randomized Trial Using Oral Metformin Versus Placebo in the Treatment of Acanthosis Nigricans in Children With Obesity Unknown status NCT02438020 Phase 4 Metformin
15 Preoperative Carbohydrate Loading in Bariatric Surgery - Randomized Clinical Trail Unknown status NCT04486079 Phase 4
16 Laparoscopic Non Banded Vertical (Magenstrasse and Mill) Gastroplasty In Bariatric Surgery. Morbidity and Results on Weight Loss and Associated Co-morbidities Unknown status NCT02050477 Phase 4
17 Endobarrier Treatment in Obese Subjects With T2DM Unknown status NCT01718457 Phase 4
18 The Effect of Vitamin A Supplementation on CD4+ T-cell Secretion in Obese Individuals Unknown status NCT01405352 Phase 4
19 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
20 Effect of POSTbiotics Supplementation on Microbiome in OBese Children: the POST-OB Study Unknown status NCT04151823 Phase 4 Vitamin D3;Immunofos
21 Could Gut Microbiome Contribute to the Therapeutic Effect of Liraglutide 3.0 mg? A Randomized Double Blind Placebo Controlled Trial Unknown status NCT04046822 Phase 4 Liraglutide 6 MG/ML [Saxenda];Placebo
22 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
23 Comparing the Efficacy of Two Frequently Used Doses of Enoxaparin for VTE Prophylaxis After Bariatric Surgery Unknown status NCT01970202 Phase 4 40mg Enoxaparin;60mg Enoxaparin
24 Laparoscopic Roux-en-Y Gastric Bypass vs. Laparoscopic BPD-Duodenal Switch for Superobesity (BMI > 50 kg/m2)- A Randomized Clinical Trial Unknown status NCT00327912 Phase 4
25 Laparoscopic Bariatric Surgery: Impact of the Level of Neuromuscular Blockade on Surgical Conditions - Comparison Between Moderate and Deep Neuromuscular Blockade Unknown status NCT02118844 Phase 4 rocuronium
26 Levonorgestrel-releasing Intrauterine Device Effects on Hemostatic and Arterial Function of Obese Women Unknown status NCT01320917 Phase 4
27 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
28 Healthy Opportunities for Physical Activity and Nutrition (HOP'N) After-School Project Unknown status NCT01015599 Phase 4
29 Prospective, Pharmacokinetic Study for Determination of the Relationship Between Lean Body Weight and Anti-Xa Activity 4 Hours After Subcutaneous Injection of 5700 IU Nadroparin in Morbidly Obese Patients After Bariatric Surgery. Unknown status NCT02295150 Phase 4 Nadroparin
30 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
31 Effect of Daily Glucomannan in Overweight Patients Unknown status NCT01485718 Phase 4
32 The Effect of Weight Loss With Orlistat or Sibutramine Administration , Hypocaloric Diet and Physical Exercise , on AMH Levels, in Women With Polycystic Ovary Syndrome Unknown status NCT01475019 Phase 4 Orlistat;Sibutramine
33 Beijing Chao-yang Hospital, Capital Medical University Unknown status NCT02583438 Phase 4 Saxagliptin (Bristol-Myers Squibb Company)
34 Investigating Whether the Magnitude of Postoperative Inflammatory and Insulin Resistant Responses is Related to Body Composition and Physiological Function of Skeletal Muscle & Adipose Tissue Unknown status NCT01470534 Phase 4
35 The Effect of Mirabegron on Brown Adipose Tissue in Healthy Young White Caucasian and South Asian Men Unknown status NCT03012113 Phase 4 Mirabegron;Placebo Oral Capsule
36 A 24-Week, National, Single-Centre, Open-Labelled, Randomised, Parallel-Group Trial Comparing Energy Expenditure With Insulin Detemir Versus NPH Insulin Using a Basal-Bolus Regimen With Insulin Aspart as the Mealtime Insulin in Subjects With Type 2 Diabetes Unknown status NCT00788840 Phase 4 Insulatard;Detemir
37 The Use of Antimicrobial Gauze in Pregnant Women Undergoing C-section With BMI >40 to Decrease Wound Complications by 6 Weeks postpartum--a Small Feasibility Study Unknown status NCT02882360 Phase 4
38 Influence of Erythromycin on ad Libitum Food Intake and the Evaluation of Motilin in Food Timing in Healthy Volunteers and Patients Unknown status NCT03024879 Phase 4 Erythromycin;Saline
39 The Effect of Exenatide on Brown Adipose Tissue Activity and Energy Expenditure in Healthy Young Men Unknown status NCT03002675 Phase 4 Bydureon
40 Randomisation to Endoluminal Intestinal Liner Alone Versus With Incretin Analogue in SustainEd Diabesity (REVISE-Diabesity) Unknown status NCT02055014 Phase 4 Liraglutide
41 HYpertension Therapy With Valsartan Versus EpleRenone for Obese Patients: A Randomized Clinical Trial Unknown status NCT03476616 Phase 4 Eplerenone (-based therapy) arm;Valsartan (-based therapy) arm
42 Synergy Effect of the Appetite Hormone GLP-1 (LiragluTide) and Exercise on Maintenance of Weight Loss and Health After a Low Calorie Diet - the S-LiTE Randomized Trial Unknown status NCT04122716 Phase 4 Liraglutide
43 The Effect of Liraglutide on MMC Activity, Gastrointestinal Hormones, Hunger Ratings and ad Libitum Food Intake in Healthy Volunteers Unknown status NCT04008290 Phase 4 0.6 mg Liraglutide;Placebo
44 The Efficacy of a Once Weekly Glucagon-Like Peptide-1 Agonist on Body Weight/Composition and Metabolic Parameters in Persons With SCI Unknown status NCT03292315 Phase 4 Exenatide 2 MG Injection [Bydureon]
45 A Pilot Study: Comparing Physiological Parameters and Outcome Variables Using Pressure Support Ventilation Versus Pressure Controlled Ventilation in Patients With Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
46 Metformin Treatment for Preventing Gestational Diabetes in High-risk Patients Unknown status NCT00883259 Phase 4 Metformin
47 Effects of Valsartan on Metabolic Syndrome in Patients With Hypertension Unknown status NCT00790946 Phase 4 Valsartan
48 Efficacy and Safety of Liraglutide-bolus (Liraglutide Plus Prandial Insulin) Versus Glargine-bolus Therapy in Overweight / Obese Patients With Uncontrolled Type 2 Diabetes (LiraGooD)--A Multicenter Randomized Controlled Study Unknown status NCT03087032 Phase 4 Liraglutide;insulin glargine
49 Vitamin D Concentrations and Their Effect on Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
50 Study of Metabolic Effects of EndoBarrier Versus Intragastric Balloon in Obese Patients With Type 2 Diabetes. Unknown status NCT01848795 Phase 4

Search NIH Clinical Center for Body Mass Index Quantitative Trait Locus 11

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Benzphetamine
Benzphetamine hydrochloride
Dexfenfluramine
Dexfenfluramine Hydrochloride
Diethylpropion
Diethylpropion Hydrochloride
Fenfluramine
Fenfluramine Hydrochloride
lorcaserin
lorcaserin hydrochloride
Mazindol
Methamphetamine
orlistat
phendimetrazine
PHENDIMETRAZINE HYDROCHLORIDE
phendimetrazine tartrate
Phenmetrazine
Phenmetrazine Hydrochloride
Phentermine
Phentermine Hydrochloride
PHENTERMINE RESIN
Phenylpropanolamine
Phenylpropanolamine Hydrochloride
sibutramine
SIBUTRAMINE HYDROCHLORIDE

Cochrane evidence based reviews: obesity

Sources

Genetic Tests for Body Mass Index Quantitative Trait Locus 11

About this section

Genetic tests related to Body Mass Index Quantitative Trait Locus 11:

# Genetic test Affiliating Genes
1 Obesity 28 ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL NR0B2 POMC PPARG SDC3 UCP3
2 Body Mass Index Quantitative Trait Locus 11 28
3 Obesity (bmiq12), Susceptibility to 28 PCSK1
4 Leanness, Inherited 28
Sources

Anatomical Context for Body Mass Index Quantitative Trait Locus 11

About this section

Organs/tissues related to Body Mass Index Quantitative Trait Locus 11:

MalaCards : Skeletal Muscle, Liver, Heart, Adipocyte, Brain, Kidney, Bone
Sources

Publications for Body Mass Index Quantitative Trait Locus 11

About this section

Articles related to Body Mass Index Quantitative Trait Locus 11:

(show top 50) (show all 34266)
# Title Authors PMID Year
1
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. 53 62 5
19091795 2009
2
Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity. 53 62 5
19284607 2009
3
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. 53 62 5
18801902 2009
4
Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function. 53 62 5
16083993 2005
5
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. 53 62 5
16025115 2005
6
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. 53 62 5
15486053 2005
7
Molecular genetics of human obesity-associated MC4R mutations. 53 62 5
12851297 2003
8
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. 53 62 5
12690102 2003
9
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. 53 62 5
12588803 2003
10
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 53 62 5
12646665 2003
11
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. 53 62 5
12499395 2003
12
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism. 53 62 5
12165561 2002
13
A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity. 53 62 5
11889220 2002
14
Mutations in the preproghrelin/ghrelin gene associated with obesity in humans. 53 62 5
11502844 2001
15
A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humans. 53 62 5
11381268 2001
16
Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects. 53 62 5
11136233 2001
17
Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. 53 62 5
10903341 2000
18
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. 53 62 5
10903343 2000
19
Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes. 53 62 5
9769326 1998
20
Patients with Obesity Caused by Melanocortin-4 Receptor Mutations Can Be Treated with a Glucagon-like Peptide-1 Receptor Agonist. 62 5
29861388 2018
21
Loss-of-function mutations in ADCY3 cause monogenic severe obesity. 62 5
29311637 2018
22
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes. 62 5
29311636 2018
23
Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity. 62 5
29311635 2018
24
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans. 62 5
26287746 2015
25
Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. 62 5
26179253 2015
26
Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene. 62 5
25332687 2014
27
High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families. 62 5
22463805 2012
28
Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human. 62 5
22343897 2012
29
Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity. 62 5
21047972 2011
30
Pharmacological chaperones restore function to MC4R mutants responsible for severe early-onset obesity. 62 5
20826565 2010
31
Obesity-linked variants of melanocortin-4 receptor are misfolded in the endoplasmic reticulum and can be rescued to the cell surface by a chemical chaperone. 62 5
20631012 2010
32
Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients. 53 5
19298524 2009
33
Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway. 53 5
19301229 2009
34
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. 62 5
19151714 2009
35
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. 53 5
18559663 2008
36
Common nonsynonymous variants in PCSK1 confer risk of obesity. 62 5
18604207 2008
37
Sporadic mutations in melanocortin receptor 3 in morbid obese individuals. 53 5
18231126 2008
38
Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor. 53 5
17628007 2007
39
Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis. 53 5
17579204 2007
40
Variation in FTO contributes to childhood obesity and severe adult obesity. 62 5
17496892 2007
41
A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities. 62 5
17351148 2007
42
A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population. 53 5
17492953 2007
43
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 53 5
17229951 2007
44
ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children. 53 5
16968801 2006
45
Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist. 53 5
16752916 2006
46
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. 53 5
16507637 2006
47
Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish. 53 5
16204371 2005
48
The common -866G/A polymorphism in the promoter region of the UCP-2 gene is associated with reduced risk of type 2 diabetes in Caucasians from Italy. 53 5
15562023 2005
49
Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians. 53 5
15448103 2004
50
Polymorphisms in the amino acid transporter solute carrier family 6 (neurotransmitter transporter) member 14 gene contribute to polygenic obesity in French Caucasians. 62 57
15331564 2004
Sources

Variations for Body Mass Index Quantitative Trait Locus 11

About this section

ClinVar genetic disease variations for Body Mass Index Quantitative Trait Locus 11:

IMPROVED
5 (show top 50) (show all 206)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDC3 NM_014654.4(SDC3):c.986C>T (p.Thr329Ile) SNV Association
 12755 rs2282440 GRCh37: 1:31347320-31347320
GRCh38: 1:30874473-30874473
2 SDC3 NM_014654.4(SDC3):c.622G>A (p.Val208Ile) SNV Association
 12756 rs2491132 GRCh37: 1:31349647-31349647
GRCh38: 1:30876800-30876800
3 ATP6V0D1-DT, AGRP NM_001138.2(AGRP):c.199G>A (p.Ala67Thr) SNV Association
Pathogenic
 7329 rs5030980 GRCh37: 16:67516945-67516945
GRCh38: 16:67483042-67483042
4 PPARG NM_138711.6(PPARG):c.248C>A (p.Pro83Gln) SNV Pathogenic
 8130 rs1800571 GRCh37: 3:12422848-12422848
GRCh38: 3:12381349-12381349
5 MC4R NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) SNV Pathogenic
Pathogenic
 14318 rs13447324 GRCh37: 18:58039478-58039478
GRCh38: 18:60372245-60372245
6 MC4R NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) SNV Pathogenic
 14329 rs121913562 GRCh37: 18:58038771-58038771
GRCh38: 18:60371538-60371538
7 NUDC, NR0B2 NM_021969.3(NR0B2):c.100C>T (p.Arg34Ter) SNV Pathogenic
 5426 rs74315349 GRCh37: 1:27240332-27240332
GRCh38: 1:26913841-26913841
8 DDHD2 NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) SNV Pathogenic
 39679 rs375168720 GRCh37: 8:38111160-38111160
GRCh38: 8:38253642-38253642
9 MC4R NM_005912.3(MC4R):c.838T>C (p.Phe280Leu) SNV Pathogenic
 492863 rs756232889 GRCh37: 18:58038745-58038745
GRCh38: 18:60371512-60371512
10 overlap with 26 genes GRCh37/hg19 16p11.2(chr16:29592783-30190568) CN LOSS Pathogenic
 523254 GRCh37: 16:29592783-30190568
GRCh38:
11 MC4R NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) SNV Pathogenic
 562356 rs369841551 GRCh37: 18:58039117-58039117
GRCh38: 18:60371884-60371884
12 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) DEL Pathogenic
 548448 rs1567499068 GRCh37: 15:76866531-76866531
GRCh38: 15:76574190-76574190
13 MC4R NM_005912.3(MC4R):c.496G>A (p.Val166Ile) SNV Pathogenic
 562224 rs942758928 GRCh37: 18:58039087-58039087
GRCh38: 18:60371854-60371854
14 BBIP1 NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter) SNV Pathogenic
 626905 rs1590746439 GRCh37: 10:112661299-112661299
GRCh38: 10:110901541-110901541
15 overlap with 11 genes GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1 CN LOSS Pathogenic
 1330175 GRCh37: 16:21751992-22546976
GRCh38:
16 overlap with 24 genes GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1 CN LOSS Pathogenic
 1330178 GRCh37: 8:10501-7214947
GRCh38:
17 overlap with 108 genes GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 CN GAIN Pathogenic
 1330180 GRCh37: 12:146240-8330229
GRCh38:
18 overlap with 14 genes GRCh37/hg19 19p13.3(chr19:3976203-4345430) CN LOSS Pathogenic
 1047892 GRCh37: 19:3976203-4345430
GRCh38:
19 MC4R NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) SNV Pathogenic
 435831 rs370479598 GRCh37: 18:58039402-58039402
GRCh38: 18:60372169-60372169
20 overlap with 4 genes GRCh37/hg19 15q11.2(chr15:22765628-23300287) CN LOSS Pathogenic
 523249 GRCh37: 15:22765628-23300287
GRCh38:
21 NUDC, NR0B2 NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser) SNV Pathogenic
 5427 rs74315350 GRCh37: 1:27238527-27238527
GRCh38: 1:26912036-26912036
22 NUDC, NR0B2 NM_021969.3(NR0B2):c.227del (p.Phe76fs) DEL Pathogenic
 636300 rs779783209 GRCh37: 1:27240205-27240205
GRCh38: 1:26913714-26913714
23 DNMT3A NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter) SNV Pathogenic
 1332907 GRCh37: 2:25467429-25467429
GRCh38: 2:25244560-25244560
24 ENPP1 NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) SNV Pathogenic
 1179191 GRCh37: 6:132206103-132206103
GRCh38: 6:131884963-131884963
25 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic
 523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
26 POLG NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) MICROSAT Pathogenic
 206608 rs796052908 GRCh37: 15:89870560-89870561
GRCh38: 15:89327329-89327330
27 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic
 523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
28 MC4R NM_005912.3(MC4R):c.896C>A (p.Pro299His) SNV Pathogenic
 36488 rs52804924 GRCh37: 18:58038687-58038687
GRCh38: 18:60371454-60371454
29 GNAS NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic
 374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
30 UCP3 NM_003356.4(UCP3):c.304G>A (p.Val102Ile) SNV Pathogenic
 7576 rs2229707 GRCh37: 11:73717247-73717247
GRCh38: 11:74006202-74006202
31 UCP3 NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) SNV Pathogenic
 7577 rs104894319 GRCh37: 11:73716889-73716889
GRCh38: 11:74005844-74005844
32 UCP3 NM_003356.4(UCP3):c.824+1G>A SNV Pathogenic
 7578 rs45476292 GRCh37: 11:73714871-73714871
GRCh38: 11:74003826-74003826
33 UCP3 NM_003356.4(UCP3):c.208C>T (p.Arg70Trp) SNV Pathogenic
 7579 rs17848368 GRCh37: 11:73717343-73717343
GRCh38: 11:74006298-74006298
34 GLDC NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) SNV Pathogenic
 11985 rs121964976 GRCh37: 9:6589230-6589230
GRCh38: 9:6589230-6589230
35 BRCA2 NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) DEL Pathogenic
 37935 rs80359473 GRCh37: 13:32913425-32913428
GRCh38: 13:32339288-32339291
36 MC4R NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) MICROSAT Pathogenic/Likely Pathogenic
 36487 rs193922687 GRCh37: 18:58038746-58038747
GRCh38: 18:60371513-60371514
37 MC4R NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) SNV Pathogenic/Likely Pathogenic
 327713 rs747681609 GRCh37: 18:58039089-58039089
GRCh38: 18:60371856-60371856
38 MC3R NM_019888.3(MC3R):c.437T>A (p.Ile146Asn) SNV Risk Factor
 14339 rs74315393 GRCh37: 20:54824336-54824336
GRCh38: 20:56249280-56249280
39 MC3R NM_019888.3(MC3R):c.893T>G (p.Ile298Ser) SNV Risk Factor
 14340 rs121913556 GRCh37: 20:54824792-54824792
GRCh38: 20:56249736-56249736
40 ENPP1 NM_006208.3(ENPP1):c.*1043A>G SNV Risk Factor
 13590 rs7754561 GRCh37: 6:132212694-132212694
GRCh38: 6:131891554-131891554
41 UCP2 NM_003355.2(UCP2):c.-1245G>A SNV Risk Factor
 7865 rs659366 GRCh37: 11:73694754-73694754
GRCh38: 11:73983709-73983709
42 GHRL, GHRLOS NM_016362.5(GHRL):c.269A>T (p.Gln90Leu) SNV Risk Factor
 5063 rs4684677 GRCh37: 3:10328453-10328453
GRCh38: 3:10286769-10286769
43 FFAR4 NM_001195755.2(FFAR4):c.761G>A (p.Arg254His) SNV Risk Factor
 30774 rs116454156 GRCh37: 10:95347041-95347041
GRCh38: 10:93587284-93587284
44 AQP7 NG_027764.1:g.4048A>G SNV Risk Factor
 35452 GRCh37: 9:33403470-33403470
GRCh38: 9:33403472-33403472
45 LEPR NM_002303.6(LEPR):c.2880C>G (p.Asn960Lys) SNV Likely Pathogenic
 36465 rs193922650 GRCh37: 1:66102080-66102080
GRCh38: 1:65636397-65636397
46 MC4R NM_005912.3(MC4R):c.538T>C (p.Ser180Pro) SNV Likely Pathogenic
 36483 rs193922685 GRCh37: 18:58039045-58039045
GRCh38: 18:60371812-60371812
47 GHRL, GHRLOS NM_016362.5(GHRL):c.152G>A (p.Arg51Gln) SNV Risk Factor
 5061 rs34911341 GRCh37: 3:10331519-10331519
GRCh38: 3:10289835-10289835
48 ADRB3 NM_000025.3(ADRB3):c.190T>C (p.Trp64Arg) SNV Risk Factor
 17741 rs4994 GRCh37: 8:37823798-37823798
GRCh38: 8:37966280-37966280
49 FTO NM_001080432.3(FTO):c.46-43098T>C SNV Risk Factor
 217824 rs1421085 GRCh37: 16:53800954-53800954
GRCh38: 16:53767042-53767042
50 MC4R NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) SNV Likely Pathogenic
 549551 rs772393451 GRCh37: 18:58038834-58038834
GRCh38: 18:60371601-60371601

UniProtKB/Swiss-Prot genetic disease variations for Body Mass Index Quantitative Trait Locus 11:

73 (show all 31)
# Symbol AA change Variation ID SNP ID
1 MC4R p.Ser30Phe VAR_010704 rs13447323
2 MC4R p.Asp37Val VAR_010705 rs13447325
3 MC4R p.Pro78Leu VAR_010706 rs13447326
4 MC4R p.Arg165Trp VAR_010709 rs13447332
5 MC4R p.Gly252Ser VAR_010711 rs13447336
6 MC4R p.Ile317Thr VAR_010712 rs13447337
7 MC4R p.Asn274Ser VAR_015357 rs121913561
8 MC4R p.Thr11Ala VAR_038632 rs372794914
9 MC4R p.Ser36Tyr VAR_038633
10 MC4R p.Val50Met VAR_038634 rs121913557
11 MC4R p.Ser58Cys VAR_038635 rs121913558
12 MC4R p.Asn62Ser VAR_038636 rs121913566
13 MC4R p.Asn97Asp VAR_038638 rs121913565
14 MC4R p.Ile102Ser VAR_038639 rs121913559
15 MC4R p.Ile102Thr VAR_038640 rs121913559
16 MC4R p.Leu106Pro VAR_038641
17 MC4R p.Ile125Lys VAR_038642
18 MC4R p.Ser127Leu VAR_038643 rs13447331
19 MC4R p.Arg165Gln VAR_038644 rs747681609
20 MC4R p.Ile170Val VAR_038645 rs121913560
21 MC4R p.Ala175Thr VAR_038646 rs121913563
22 MC4R p.Gly181Asp VAR_038647 rs13447333
23 MC4R p.Ala219Val VAR_038648 rs121913567
24 MC4R p.Val253Ile VAR_038650 rs187152753
25 MC4R p.Cys271Arg VAR_038651 rs1057517991
26 MC4R p.Cys271Tyr VAR_038652 rs121913562
27 MC4R p.Ile316Ser VAR_038653 rs121913564
28 MC4R p.Leu325Phe VAR_038654
29 MC4R p.Asn72Lys VAR_077570
30 PPARG p.Pro113Gln VAR_010724 rs1800571
31 UCP3 p.Val102Ile VAR_004408 rs2229707

Copy number variations for Body Mass Index Quantitative Trait Locus 11 from CNVD:

6 (show top 50) (show all 193)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 18344 1 145031795 146193043 Duplication Obesity
2 18707 1 147182865 147958383 Copy number Obesity
3 29658 1 234314080 235417931 Duplication Obesity
4 30004 1 23900000 28000000 Gain or loss NR0B2 Obesity
5 31127 1 25468522 25534812 Copy number Obesity
6 36218 1 72541074 72583749 Copy number Obesity
7 39689 10 118354808 118363319 Deletion PNLIPRP1 Obesity
8 42846 11 85763425 85811798 Duplication CCDC81 Obesity
9 42847 11 85243791 85308699 Duplication CCDC83 Obesity
10 42848 11 85072540 85074968 Duplication CCDC89 Obesity
11 42849 11 85046517 85053821 Duplication CREBZF Obesity
12 42850 11 82843700 85015962 Duplication DLG2 Obesity
13 42851 11 85633462 85667428 Duplication EED Obesity
14 42852 11 85829797 86061176 Duplication ME3 Obesity
15 42853 11 85346132 85457756 Duplication PICALM Obesity
16 42854 10 41756307 42943818 Duplication ZNF33B Obesity
17 42855 10 41756307 42943818 Duplication ZNF37BP Obesity
18 42902 10 42100000 64800000 Deletion or duplication NPY4R Obesity
19 43037 10 432207 876909 Gain Obesity
20 43341 10 46338178 46812351 Copy number Obesity
21 43577 10 47011183 47145122 Copy number Obesity
22 44264 10 541873 818440 Gain Obesity
23 44496 10 58186369 58196856 Copy number Obesity
24 49150 11 103489260 106419349 Loss Obesity
25 49342 11 105716030 108818442 Loss Obesity
26 55658 11 55130596 55210165 Copy number Obesity
27 58770 11 6934067 9220605 Duplication ZNF214 Obesity
28 59059 11 71964832 72063060 Copy number PDE2A Obesity
29 59062 11 71980493 72106059 Gain Obesity
30 59066 11 72013333 72089312 Gain Obesity
31 60263 11 84695124 86095201 Duplication CHORDC1 Obesity
32 60264 11 84695124 86095201 Duplication CTSC Obesity
33 60265 11 84695124 86095201 Duplication FOLH1B Obesity
34 60266 11 84695124 86095201 Duplication GRM5 Obesity
35 60267 11 84695124 86095201 Duplication NAALAD2 Obesity
36 60268 11 84695124 86095201 Duplication NOX4 Obesity
37 60269 11 84695124 86095201 Duplication RAB38 Obesity
38 60270 11 84695124 86095201 Duplication SYTL2 Obesity
39 60271 11 84695124 86095201 Duplication TMEM126A Obesity
40 60272 11 84695124 86095201 Duplication TMEM126B Obesity
41 60273 11 84695124 86095201 Duplication TRIM49 Obesity
42 60274 11 84695124 86095201 Duplication TRIM53AP Obesity
43 60275 11 84695124 86095201 Duplication TRIM64 Obesity
44 60446 13 24152694 24183918 Duplication ATP12A Obesity
45 60447 13 23781715 23794669 Duplication C1QTNF9 Obesity
46 60448 13 23363237 23374794 Duplication C1QTNF9B Obesity
47 60449 13 23202327 23361559 Duplication MIPEP Obesity
48 60450 11 86463458 91574130 Duplication MIR2276 Obesity
49 60451 13 23893068 23984948 Duplication PARP4 Obesity
50 60452 13 23361027 23364242 Duplication PCOTH Obesity
Sources

Expression for Body Mass Index Quantitative Trait Locus 11

About this section
LifeMap Discovery
Genes differentially expressed in tissues of Body Mass Index Quantitative Trait Locus 11 patients vs. healthy controls: 35 (show all 23)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 TYROBP transmembrane immune signaling adaptor TYROBP Adipose + 4.22 0.000
2 SLN sarcolipin Skeletal Muscle - 4.17 0.031
3 GAPDH glyceraldehyde-3-phosphate dehydrogenase Skeletal Muscle - 4.14 0.045
4 GPR183 G protein-coupled receptor 183 Adipose + 3.95 0.000
5 FN1 fibronectin 1 Adipose + 3.76 0.000
6 MYOT myotilin Liver - 3.66 0.000
7 AZGP1 alpha-2-glycoprotein 1, zinc-binding Adipose - 3.65 0.000
8 RPL41 ribosomal protein L41 Skeletal Muscle - 3.56 0.040
9 TIMP1 TIMP metallopeptidase inhibitor 1 Adipose + 3.53 0.000
10 IL17RC interleukin 17 receptor C Liver + 3.52 0.002
11 CYP2C9 cytochrome P450 family 2 subfamily C member 9 Liver - 3.46 0.001
12 PTPRZ1 protein tyrosine phosphatase receptor type Z1 Adipose + 3.44 0.000
13 PTGDS prostaglandin D2 synthase Adipose + 3.42 0.000
14 LYZ lysozyme Adipose + 3.33 0.000
15 GREB1 growth regulating estrogen receptor binding 1 Liver - 3.30 0.009
16 IGHM immunoglobulin heavy constant mu Liver + 3.29 0.003
17 MFAP5 microfibril associated protein 5 Adipose + 3.26 0.003
18 SNCA synuclein alpha Blood + 3.15 0.000
19 ZFP36L2 ZFP36 ring finger protein like 2 Liver + 3.09 0.019
20 EEA1 early endosome antigen 1 Liver - 3.08 0.017
21 SPP1 secreted phosphoprotein 1 Adipose + 3.06 0.000
22 ZFP36L2 ZFP36 ring finger protein like 2 Liver + 3.03 0.012
23 TTN titin Skeletal Muscle - 3.03 0.043
Search GEO for disease gene expression data for Body Mass Index Quantitative Trait Locus 11.
Sources

Pathways for Body Mass Index Quantitative Trait Locus 11

About this section


Pathways directly related to Body Mass Index Quantitative Trait Locus 11:

# Pathway Source
1 Variant SLC6A14 may confer susceptibility towards obesity Reactome 66
2 Defective ACTH causes obesity and POMCD Reactome 66

Pathways related to Body Mass Index Quantitative Trait Locus 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Beta-2 adrenergic-dependent CFTR expression 22
Show member pathways
 12.28 PPARG GNAS ADRB3 ADRB2
2
Glucose / Energy Metabolism 3
12.25 UCP3 PPARG GLDC ENPP1 CARTPT
3
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.04 PPARG NR0B2 GNAS ADRB3 ADRB2
4
G alpha (s) signalling events 66
Show member pathways
 11.86 POMC MC4R GNAS ADRB3 ADRB2
5
Thermogenesis 74
Show member pathways
 11.63 PPARG GNAS ADRB3
6
Thyroid hormones production and peripheral downstream signaling effects 74
11.47 PPARG POMC MC4R AGRP ADRB3
7
Syndecan-3-mediated signaling events 61
10.56 SDC3 POMC MC4R AGRP
8
"Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics" 60
10.32 POMC MC4R GHRL CARTPT AGRP
Sources

GO Terms for Body Mass Index Quantitative Trait Locus 11

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Biological processes related to Body Mass Index Quantitative Trait Locus 11 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 10.19 GHRL CARTPT ADRB3 ADRB2
2 positive regulation of cold-induced thermogenesis GO:0120162 10.1 GNAS GHRL ADRB3 ADRB2
3 generation of precursor metabolites and energy GO:0006091 10.03 POMC ENPP1 ADRB3
4 hormone-mediated signaling pathway GO:0009755 10.02 AGRP GHRL PPARG
5 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 10.01 MC4R GNAS ADRB3 ADRB2
6 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.92 ADRB2 ADRB3 GNAS MC4R
7 eating behavior GO:0042755 9.91 BBIP1 AGRP ADRB3
8 positive regulation of adipose tissue development GO:1904179 9.88 PPARG GHRL
9 activation of adenylate cyclase activity GO:0007190 9.88 ADRB2 ADRB3 GNAS
10 heat generation GO:0031649 9.83 ADRB3 ADRB2
11 norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure GO:0002025 9.81 ADRB3 ADRB2
12 adrenergic receptor signaling pathway GO:0071875 9.77 ADRB3 ADRB2
13 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.77 GNAS ADRB3 ADRB2
14 response to melanocyte-stimulating hormone GO:1990680 9.76 POMC MC4R
15 positive regulation of feeding behavior GO:2000253 9.74 GHRL AGRP
16 diet induced thermogenesis GO:0002024 9.73 MC4R ADRB3 ADRB2
17 desensitization of G protein-coupled receptor signaling pathway by arrestin GO:0002032 9.58 ADRB3 ADRB2
18 negative regulation of multicellular organism growth GO:0040015 9.55 GNAS ADRB3 ADRB2
19 adult feeding behavior GO:0008343 9.43 GHRL CARTPT AGRP
20 response to cold GO:0009409 9.17 UCP3 PPARG ADRB3 ADRB2

Molecular functions related to Body Mass Index Quantitative Trait Locus 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.73 POMC GNAS GHRL
2 norepinephrine binding GO:0051380 9.46 ADRB3 ADRB2
3 adrenergic receptor activity GO:0004935 8.96 ADRB3 ADRB2
4 type 1 melanocortin receptor binding GO:0070996 8.92 POMC AGRP
Sources

Sources for Body Mass Index Quantitative Trait Locus 11

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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