BMIQ11
MCID: BDY004
MIFTS: 83

Body Mass Index Quantitative Trait Locus 11 (BMIQ11)

Categories: Bone diseases, Genetic diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Body Mass Index Quantitative Trait Locus 11

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

Name: Body Mass Index Quantitative Trait Locus 11 57 29 39
Obesity 57 12 72 29 54 6 42 44 15 39 17 70 32
Obesity, Early-Onset, Susceptibility to 57 29 6
Leanness, Inherited 57 29 6
Obesity, Severe, and Type Ii Diabetes 57 6
Obesity, Susceptibility to, Bmiq11 57 13
Obesity, Mild, Early-Onset 57 6
Obesity, Association with 57 6
Obesity, Late-Onset 57 6
Obesity, Severe 57 6
Obesity , Susceptibility to 6
Obesity, Susceptibility to 57
Obesity, Early-Onset 57
Obesity Bmiq11 57
Bmiq11 57

Characteristics:


Classifications:



External Ids:

Disease Ontology 12 DOID:9970
OMIM® 57 300306 601665
ICD9CM 34 278.00
MeSH 44 D009765
NCIt 50 C159658
SNOMED-CT 67 5476005
ICD10 32 E66 E66.0 E66.9
UMLS 70 C0028754

Summaries for Body Mass Index Quantitative Trait Locus 11

MedlinePlus : 42 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 percent 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 symptoms, high weight 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 Glucose / Energy Metabolism and cAMP signaling pathway. The drugs Dalteparin and Cilostazol have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and endothelial, and related phenotypes are obesity and decreased resting energy expenditure

Disease Ontology : 12 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 : 72 Obesity: 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

Related Diseases for Body Mass Index Quantitative Trait Locus 11

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 1948)
# Related Disease Score Top Affiliating Genes
1 leptin deficiency or dysfunction 34.5 UCP3 PPARG POMC MC4R GHRL CARTPT
2 type 2 diabetes mellitus 33.7 UCP3 PRMT7 PPARG POMC MC4R GHRL
3 obesity due to melanocortin 4 receptor deficiency 33.5 PRMT7 POLG NR0B2 MC4R GNAS GLDC
4 abdominal obesity-metabolic syndrome 1 33.4 PPARG POMC GHRL ADRB3
5 diabetes mellitus 33.2 UCP3 PPARG POMC MC4R GHRL ENPP1
6 glucose intolerance 33.2 PPARG POMC GHRL ENPP1 ADRB3
7 eating disorder 33.0 POMC MC4R GHRL AGRP
8 prader-willi syndrome 32.9 POMC MC4R GHRL AGRP
9 prediabetes syndrome 32.6 PPARG GHRL ADRB3
10 gestational diabetes 32.6 PPARG ENPP1 ADRB3
11 overnutrition 32.6 UCP3 PPARG POMC MC4R GHRL AGRP
12 hypertension, essential 32.6 PPARG POMC MIR143 MC4R GNAS GHRL
13 migraine with or without aura 1 32.5 POMC POLG BRCA2 ADRB2
14 disease of mental health 32.5 PPARG POMC POLG MC4R GNAS GHRL
15 pseudohypoparathyroidism, type ic 32.4 MC4R GNAS
16 chronic kidney disease 32.4 PPARG POMC GNAS GHRL ENPP1
17 anorexia nervosa 32.2 POMC MC4R GHRL AGRP
18 asthma 32.1 PPARG POMC GHRL BRCA2 ADRB3 ADRB2
19 hyperandrogenism 31.9 PPARG POMC MC4R
20 cardiovascular system disease 31.7 PPARG MIR143 GHRL ADRB2
21 ovarian disease 31.5 PPARG POMC MIR143 BRCA2
22 hyperthyroidism 31.4 POMC GNAS GHRL
23 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.3 PPARG POLG
24 familial hyperlipidemia 31.1 PRMT7 PPARG ADRB3
25 thyroid gland disease 31.1 PPARG POMC GNAS
26 acromegaly 31.1 POMC GNAS GHRL
27 breast disease 31.1 PPARG POMC MIR143 BRCA2
28 phenylketonuria 30.8 PPARG POLG GHRL
29 osseous heteroplasia, progressive 30.4 GNAS ENPP1 BRCA2
30 multiple endocrine neoplasia, type i 30.3 POMC GNAS GHRL
31 body mass index quantitative trait locus 19 11.9
32 body mass index quantitative trait locus 4 11.8
33 body mass index quantitative trait locus 12 11.8
34 body mass index quantitative trait locus 9 11.8
35 body mass index quantitative trait locus 8 11.8
36 body mass index quantitative trait locus 7 11.8
37 body mass index quantitative trait locus 18 11.8
38 body mass index quantitative trait locus 14 11.8
39 body mass index quantitative trait locus 10 11.8
40 leptin receptor deficiency 11.5
41 cohen syndrome 11.5
42 obesity-hypoventilation syndrome 11.5
43 obesity, early-onset, with adrenal insufficiency and red hair 11.5
44 wilson-turner x-linked mental retardation syndrome 11.5
45 abdominal obesity-metabolic syndrome 3 11.5
46 mehmo syndrome 11.5
47 morbid obesity and spermatogenic failure 11.5
48 abdominal obesity-metabolic syndrome quantitative trait locus 2 11.5
49 proprotein convertase 1/3 deficiency 11.4
50 obesity, hyperphagia, and developmental delay 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

Symptoms & Phenotypes for Body Mass Index Quantitative Trait Locus 11

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

31
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 decreased resting energy expenditure 31 HP:0012340
3 increased waist to hip ratio 31 HP:0031819

Clinical features from OMIM®:

300306 601665 (Updated 05-Apr-2021)

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


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 ADRB2 ADRB3 AGRP BBIP1 BRCA2 CARTPT
2 adipose tissue MP:0005375 10.32 ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL
3 homeostasis/metabolism MP:0005376 10.32 ADRB2 ADRB3 AGRP BRCA2 CARTPT DDHD2
4 behavior/neurological MP:0005386 10.3 ADRB2 ADRB3 AGRP BBIP1 BRCA2 CARTPT
5 endocrine/exocrine gland MP:0005379 10.17 ADRB2 ADRB3 BRCA2 CARTPT GHRL GNAS
6 nervous system MP:0003631 9.97 ADRB2 AGRP BBIP1 BRCA2 DDHD2 ENPP1
7 liver/biliary system MP:0005370 9.92 AGRP ENPP1 GNAS MC4R NR0B2 POMC
8 neoplasm MP:0002006 9.8 BRCA2 GNAS MC4R POLG POMC PPARG
9 no phenotypic analysis MP:0003012 9.5 ADRB2 AGRP GNAS MC4R POLG POMC
10 skeleton MP:0005390 9.36 ADRB2 BRCA2 CARTPT ENPP1 GLDC GNAS

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 11

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

(show top 50) (show all 954)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4 9005-49-6
2
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
3
Ticagrelor Approved Phase 4 274693-27-5 9871419
4
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
5
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
6
Indapamide Approved Phase 4 26807-65-8 3702
7
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
8
Linagliptin Approved Phase 4 668270-12-0 10096344
9
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
10
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
11
Tolnaftate Approved, Investigational, Vet_approved Phase 4 2398-96-1 5510
12
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
13
Atorvastatin Approved Phase 4 134523-00-5 60823
14
Fenofibrate Approved Phase 4 49562-28-9 3339
15
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
16
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
17
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
18
Clarithromycin Approved Phase 4 81103-11-9 84029
19
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521
20
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
21
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585 135398745
22
Ziprasidone Approved Phase 4 146939-27-7 60854
23
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
24
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
25
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
26
Calcium carbonate Approved, Investigational Phase 4 471-34-1
27
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
28
Octreotide Approved, Investigational Phase 4 83150-76-9 6400441 383414
29
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
30
Meropenem Approved, Investigational Phase 4 119478-56-7, 96036-03-2 441130 64778
31 Orange Approved Phase 4
32
Magnesium oxide Approved Phase 4 1309-48-4 14792
33
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 130881 158781
34
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
35
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
36
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
37
Coal tar Approved Phase 4 8007-45-2
38
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
39
Losartan Approved Phase 4 114798-26-4 3961
40
Ofloxacin Approved Phase 4 82419-36-1 4583
41
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
42
Tedizolid Approved, Investigational Phase 4 856866-72-3
43
Tedizolid phosphate Approved Phase 4 856867-55-5
44
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
45
Bazedoxifene Approved, Investigational Phase 4 198481-32-2
46
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
47
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
48
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
49
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
50
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139

Interventional clinical trials:

(show top 50) (show all 7845)
# Name Status NCT ID Phase Drugs
1 Weight Reduction Alone May Not be Sufficient to Maintain Disease Remission in Obese Patients With Psoriasis: a Randomized, Investigator-blinded Study Unknown status NCT01439425 Phase 4
2 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
3 Levonorgestrel-releasing Intrauterine Device Effects on Hemostatic and Arterial Function of Obese Women Unknown status NCT01320917 Phase 4
4 The Effect of Obesity in Dexmedetomidine Metabolic Clearance Unknown status NCT02557867 Phase 4 Dexmedetomidine
5 Vitamin D Concentrations and Their Effect on Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
6 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
7 The Effect of Vitamin A Supplementation on CD4+ T-cell Secretion in Obese Individuals Unknown status NCT01405352 Phase 4
8 Study of the Concentrations of Long Acting Morphine After Oral Absorption in Subjects Who Underwent Gastric Bypass (OBEMO 2) Unknown status NCT02641301 Phase 4 Sustained release morphine sulfate, 30 mg
9 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
10 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
11 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Unknown status NCT02933788 Phase 4 Cilostazol;Acetylsalicylic acid
12 Early Detection of Atherosclerosis in the Primary Care Setting: a Randomized Trial to Assess the Efficacy of a Novel Strategy in the Primary Prevention of Cardiovascular Diseases. Unknown status NCT00734123 Phase 4 Simvastatin or Atorvastatin;Enalapril;Aspirin or clopidogrel;Rimonabant
13 PRotective Effect on the Coronary Microcirculation of Patients With DIabetes by Clopidogrel or Ticagrelor Unknown status NCT02698618 Phase 4 Randomization
14 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
15 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
16 Prevention and Control of Obesity in Primary School Children in Tehran Unknown status NCT02082080 Phase 4
17 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
18 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
19 The Therapeutic Effect of Catgut Embedding in Obesity-A Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02276235 Phase 4
20 The Effect of Probiotics on Obesity. Metabolic Endotoxemia and Inflammation Unknown status NCT03883685 Phase 4
21 Double Blinded Randomised Trial Comparing Metformin Versus Placebo in NASH Patients Receiving Bariatric Surgery for Obesity Unknown status NCT00134303 Phase 4 Metformin
22 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)
23 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
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 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
26 Healthy Opportunities for Physical Activity and Nutrition (HOP'N) After-School Project Unknown status NCT01015599 Phase 4
27 Endobarrier Treatment in Obese Subjects With T2DM Unknown status NCT01718457 Phase 4
28 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
29 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
30 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
31 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
32 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
33 Pharmacokinetic and Pharmacodynamic Evaluation of Linezolid Administered Intravenously in MRSA-positive, Morbidly Obese Patients With Pneumonia Unknown status NCT01805284 Phase 4 Linezolid
34 Evaluation of Family Intervention Program for the Treatment of Overweight or Obese Children (Nereu Program): Randomized Clinical Trial Unknown status NCT01878994 Phase 4
35 Study of Metabolic Effects of EndoBarrier Versus Intragastric Balloon in Obese Patients With Type 2 Diabetes. Unknown status NCT01848795 Phase 4
36 The Need of Dosing Adjustment for Simvastatin in Obese Patients Post Bariatric Surgery- Laparoscopic Sleeve Gastrectomy (LSG) Unknown status NCT03571802 Phase 4 Simvastatin
37 The Effect of TRADJENTA ® (LINAGLIPTIN) on Inflammation, Oxidative Stress and Insulin Resistance in Obese Type 2 Diabetes Subjects Unknown status NCT02372630 Phase 4 Linagliptin;Placebo
38 Retroclavicular Approach vs Infraclavicular Approach for Brachial Plexus Block in Obese Unknown status NCT02990702 Phase 4 Bupivacaine
39 Combined Effects of SGLT2 Inhibition and GLP-1 Receptor Agonism on Food Intake, Body Weight and Central Satiety and Reward Circuits in Obese T2DM Patients Unknown status NCT03361098 Phase 4 Dapagliflozin 10mg;Exenatide
40 What is the Effects of Incretin on the Blood Pressure and Lipid in Overweight or Obese Diabetes Patients With Masked Hypertension: Liraglutide Plus Mitiglinide Comparing Metformin Plus Mitiglinide or Mitiglinide Alone(BLOOD STUDY) Unknown status NCT02503943 Phase 4 "Liraglutide" and "Mitiglinide";"Metformin" and "Mitiglinide";"Mitiglinide"
41 Structured Exerise Training in Infertile Obese Patients Treated With Assisted Reproductive Techniques: a Randomized Controlled Trial Unknown status NCT01892111 Phase 4
42 Double-blind and Placebo-controlled Study on Intervention Effect of n-3 Fatty Acids on Glucose and Lipid Homeostasis Disorders in Obese/Diabetic Populations Unknown status NCT03708887 Phase 4 Low dose omega-3 fatty acid supplementation;High dose omega-3 fatty acid supplementation;Control drug
43 Oral Tramadol Versus Oral Celecoxib for Post-perineal Repair Analgesia After Spontaneous Vaginal Birth in Obese Women: A Randomised Controlled Trial Unknown status NCT03694873 Phase 4 Tramadol Hydrochloride;Celecoxib 200mg
44 Influence of the Aromatase Inhibitor Letrozole on Heart and Liver Function in Obese Men Unknown status NCT02097680 Phase 4 Letrozole;Placebo
45 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
46 Ultrasonographic Modification of Liver Steatosis and Visceral Fat Induced by Treatment With Losartan and Simvastatin in Hypertensive Normocholesterolemic Obese Patients Unknown status NCT00669435 Phase 4 Losartan + Simvastatin;Amlodipine + Simvastatin
47 Heparin Management for Cardiopulmonary Bypass in Cardiac Surgery: A Prospective, Comparative and Randomized Study Evaluating a Dosage Based on the Ideal Body Weight in Obese Patients Unknown status NCT02675647 Phase 4 Heparin, IV route, based on patients body weights (UI/kg);Protamin administration
48 The Effects of Cortisol Blockade on Nutritional Sympathetic Nervous System Responsiveness in Overweight and Obese Subjects With Metabolic Syndrome Unknown status NCT01620684 Phase 4 metyrapone;placebo
49 The Effect of Exenatide on Brown Adipose Tissue Activity and Energy Expenditure in Healthy Young Men Unknown status NCT03002675 Phase 4 Bydureon
50 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

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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

Genetic Tests for Body Mass Index Quantitative Trait Locus 11

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

# Genetic test Affiliating Genes
1 Obesity 29 ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL NR0B2 POMC PPARG SDC3 UCP3
2 Body Mass Index Quantitative Trait Locus 11 29
3 Leanness, Inherited 29
4 Obesity, Early-Onset, Susceptibility to 29

Anatomical Context for Body Mass Index Quantitative Trait Locus 11

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

40
Liver, Bone, Endothelial, Heart, Breast, Brain, Ovary

Publications for Body Mass Index Quantitative Trait Locus 11

Articles related to Body Mass Index Quantitative Trait Locus 11:

(show top 50) (show all 33706)
# Title Authors PMID Year
1
Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity. 54 61 6
19284607 2009
2
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. 61 6 54
12690102 2003
3
Patients with Obesity Caused by Melanocortin-4 Receptor Mutations Can Be Treated with a Glucagon-like Peptide-1 Receptor Agonist. 61 6
29861388 2018
4
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes. 6 61
29311636 2018
5
Loss-of-function mutations in ADCY3 cause monogenic severe obesity. 61 6
29311637 2018
6
Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients. 54 6
19298524 2009
7
Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway. 54 6
19301229 2009
8
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. 6 54
19091795 2009
9
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. 6 54
18801902 2009
10
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. 6 54
18559663 2008
11
Sporadic mutations in melanocortin receptor 3 in morbid obese individuals. 54 6
18231126 2008
12
Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor. 54 6
17628007 2007
13
Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis. 6 54
17579204 2007
14
Variation in FTO contributes to childhood obesity and severe adult obesity. 6 61
17496892 2007
15
A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population. 54 6
17492953 2007
16
ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children. 6 54
16968801 2006
17
Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist. 6 54
16752916 2006
18
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. 6 54
16507637 2006
19
Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish. 6 54
16204371 2005
20
Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function. 54 6
16083993 2005
21
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. 54 6
16025115 2005
22
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. 6 54
15562023 2005
23
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. 54 6
15486053 2005
24
Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians. 6 54
15448103 2004
25
Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation. 54 6
15292330 2004
26
Ala67Thr polymorphism in the Agouti-related peptide gene is associated with inherited leanness in humans. 54 6
15054840 2004
27
Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults. 6 54
14764818 2004
28
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. 6 54
12588803 2003
29
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 6 54
12646665 2003
30
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. 6 54
12499395 2003
31
A polymorphism in the human agouti-related protein is associated with late-onset obesity. 54 6
12213871 2002
32
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism. 54 6
12165561 2002
33
A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity. 6 54
11889220 2002
34
Mutations in the preproghrelin/ghrelin gene associated with obesity in humans. 6 54
11502844 2001
35
A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humans. 6 54
11381268 2001
36
Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects. 54 6
11136233 2001
37
Studies of the synergistic effect of the Trp/Arg64 polymorphism of the beta3-adrenergic receptor gene and the -3826 A-->G variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a population-based sample of 379 young Danish subjects. 54 6
10999801 2000
38
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. 54 6
10903343 2000
39
Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. 6 54
10903341 2000
40
Peroxisome proliferator-activated receptor gamma C161-->T polymorphism and coronary artery disease. 54 6
10690291 1999
41
Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. 54 6
10577903 1999
42
Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes. 54 6
9769326 1998
43
The Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is not associated with obesity or type 2 diabetes mellitus in a large population-based Caucasian cohort. 6 54
9709965 1998
44
Lack of association between the Trp64 Arg mutation in the beta 3-adrenergic receptor gene and obesity in Japanese men: a longitudinal analysis. 6 54
9100608 1997
45
A mutation of the beta 3-adrenergic receptor is associated with visceral obesity but decreased serum triglyceride. 54 6
9112025 1997
46
A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. 54 6
9054940 1997
47
Role of the beta 3-adrenergic receptor locus in obesity and noninsulin-dependent diabetes among members of Caucasian families with a diabetic sibling pair. 54 6
8954053 1996
48
The Trp64Arg mutation of the beta3 adrenergic receptor gene has no effect on obesity phenotypes in the Québec Family Study and Swedish Obese Subjects cohorts. 54 6
8903328 1996
49
Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta 3-adrenergic-receptor gene. 6 54
7609750 1995
50
Trends in obesity and adiposity measures by race or ethnicity among adults in the United States 2011-18: population based study. 61 42
33727242 2021

Variations for Body Mass Index Quantitative Trait Locus 11

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

6 (show top 50) (show all 194)
# 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 7329 rs5030980 GRCh37: 16:67516945-67516945
GRCh38: 16:67483042-67483042
4 ATP6V0D1-DT , AGRP NM_001138.2(AGRP):c.199G>A (p.Ala67Thr) SNV Pathogenic 7329 rs5030980 GRCh37: 16:67516945-67516945
GRCh38: 16:67483042-67483042
5 UCP3 NM_003356.4(UCP3):c.304G>A (p.Val102Ile) SNV Pathogenic 7576 rs2229707 GRCh37: 11:73717247-73717247
GRCh38: 11:74006202-74006202
6 UCP3 NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) SNV Pathogenic 7577 rs104894319 GRCh37: 11:73716889-73716889
GRCh38: 11:74005844-74005844
7 UCP3 NM_003356.4(UCP3):c.208C>T (p.Arg70Trp) SNV Pathogenic 7579 rs17848368 GRCh37: 11:73717343-73717343
GRCh38: 11:74006298-74006298
8 UCP3 NM_003356.4(UCP3):c.824+1G>A SNV Pathogenic 7578 rs45476292 GRCh37: 11:73714871-73714871
GRCh38: 11:74003826-74003826
9 PPARG NM_001354669.1(PPARG):c.-180C>A SNV Pathogenic 8130 rs1800571 GRCh37: 3:12422848-12422848
GRCh38: 3:12381349-12381349
10 NUDC , NR0B2 NM_021969.3(NR0B2):c.100C>T (p.Arg34Ter) SNV Pathogenic 5426 rs74315349 GRCh37: 1:27240332-27240332
GRCh38: 1:26913841-26913841
11 NUDC , NR0B2 NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser) SNV Pathogenic 5427 rs74315350 GRCh37: 1:27238527-27238527
GRCh38: 1:26912036-26912036
12 MC4R NM_005912.3(MC4R):c.896C>A (p.Pro299His) SNV Pathogenic 36488 rs52804924 GRCh37: 18:58038687-58038687
GRCh38: 18:60371454-60371454
13 POLG NM_001126131.2(POLG):c.1268_1269CT[1] (p.Leu424fs) Microsatellite Pathogenic 206608 rs796052908 GRCh37: 15:89870560-89870561
GRCh38: 15:89327329-89327330
14 DDHD2 NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) SNV Pathogenic 39679 rs375168720 GRCh37: 8:38111160-38111160
GRCh38: 8:38253642-38253642
15 MC4R NM_005912.3(MC4R):c.838T>C (p.Phe280Leu) SNV Pathogenic 492863 rs756232889 GRCh37: 18:58038745-58038745
GRCh38: 18:60371512-60371512
16 MC4R NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) SNV Pathogenic 435831 rs370479598 GRCh37: 18:58039402-58039402
GRCh38: 18:60372169-60372169
17 overlap with 4 genes GRCh37/hg19 15q11.2(chr15:22765628-23300287) copy number loss Pathogenic 523249 GRCh37: 15:22765628-23300287
GRCh38:
18 overlap with 26 genes GRCh37/hg19 16p11.2(chr16:29592783-30190568) copy number loss Pathogenic 523254 GRCh37: 16:29592783-30190568
GRCh38:
19 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) Deletion Pathogenic 548448 rs1567499068 GRCh37: 15:76866531-76866531
GRCh38: 15:76574190-76574190
20 MC4R NM_005912.3(MC4R):c.496G>A (p.Val166Ile) SNV Pathogenic 562224 rs942758928 GRCh37: 18:58039087-58039087
GRCh38: 18:60371854-60371854
21 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
22 MC4R NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) SNV Pathogenic 14318 rs13447324 GRCh37: 18:58039478-58039478
GRCh38: 18:60372245-60372245
23 MC4R NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) SNV Pathogenic 14329 rs121913562 GRCh37: 18:58038771-58038771
GRCh38: 18:60371538-60371538
24 MC4R NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) Microsatellite Pathogenic 36487 rs193922687 GRCh37: 18:58038746-58038747
GRCh38: 18:60371513-60371514
25 MC4R NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) SNV Pathogenic 327713 rs747681609 GRCh37: 18:58039089-58039089
GRCh38: 18:60371856-60371856
26 GLDC NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) SNV Pathogenic 11985 rs121964976 GRCh37: 9:6589230-6589230
GRCh38: 9:6589230-6589230
27 MC4R NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) SNV Pathogenic 562356 rs369841551 GRCh37: 18:58039117-58039117
GRCh38: 18:60371884-60371884
28 BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs) Deletion Pathogenic 37935 rs80359473 GRCh37: 13:32913425-32913428
GRCh38: 13:32339288-32339291
29 NUDC , NR0B2 NM_021969.3(NR0B2):c.531del (p.Asp178fs) Deletion Pathogenic 1033992 GRCh37: 1:27239901-27239901
GRCh38: 1:26913410-26913410
30 overlap with 14 genes GRCh37/hg19 19p13.3(chr19:3976203-4345430) copy number loss Pathogenic 1047892 GRCh37: 19:3976203-4345430
GRCh38:
31 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>T SNV Pathogenic 626905 rs1590746439 GRCh37: 10:112661299-112661299
GRCh38: 10:110901541-110901541
32 MC4R NM_005912.3(MC4R):c.407C>T (p.Ser136Phe) SNV Pathogenic 976165 GRCh37: 18:58039176-58039176
GRCh38: 18:60371943-60371943
33 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic 523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
34 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
35 MC4R NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) SNV Pathogenic 917498 rs13447324 GRCh37: 18:58039478-58039478
GRCh38: 18:60372245-60372245
36 MC4R NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) SNV Pathogenic/Likely pathogenic 435829 rs766665118 GRCh37: 18:58039134-58039134
GRCh38: 18:60371901-60371901
37 MC4R NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) SNV Likely pathogenic 549551 rs772393451 GRCh37: 18:58038834-58038834
GRCh38: 18:60371601-60371601
38 MC4R NM_005912.3(MC4R):c.750_751del (p.Ile251fs) Deletion Likely pathogenic 435828 rs13447339 GRCh37: 18:58038832-58038833
GRCh38: 18:60371599-60371600
39 MC4R NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) SNV Likely pathogenic 14331 rs121913564 GRCh37: 18:58038636-58038636
GRCh38: 18:60371403-60371403
40 PPARG NM_138711.6(PPARG):c.46_58del (p.Ser17fs) Deletion Likely pathogenic 930372 GRCh37: 3:12421251-12421263
GRCh38: 3:12379752-12379764
41 BDNF-AS , BDNF NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr) SNV Likely pathogenic 981928 GRCh37: 11:27679555-27679555
GRCh38: 11:27658008-27658008
42 EMC1 NM_015047.3(EMC1):c.313C>T (p.Arg105Ter) SNV Likely pathogenic 631526 rs148538980 GRCh37: 1:19570175-19570175
GRCh38: 1:19243681-19243681
43 KCNH2 NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) SNV Likely pathogenic 14420 rs121912504 GRCh37: 7:150648799-150648799
GRCh38: 7:150951711-150951711
44 MYH9 NM_002473.5(MYH9):c.4271A>G (p.Asp1424Gly) SNV Likely pathogenic 523453 rs867593888 GRCh37: 22:36688105-36688105
GRCh38: 22:36292059-36292059
45 CDKAL1 NM_017774.3(CDKAL1):c.371+11642G>C SNV risk factor 812171 rs7754840 GRCh37: 6:20661250-20661250
GRCh38: 6:20661019-20661019
46 AQP7 AQP7, -953, A-G SNV risk factor 35452 GRCh37:
GRCh38:
47 MC4R NM_005912.3(MC4R):c.538T>C (p.Ser180Pro) SNV Likely pathogenic 36483 rs193922685 GRCh37: 18:58039045-58039045
GRCh38: 18:60371812-60371812
48 ENPP1 NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) SNV risk factor 13589 rs1044498 GRCh37: 6:132172368-132172368
GRCh38: 6:131851228-131851228
49 GHRL , GHRLOS NM_016362.5(GHRL):c.152G>A (p.Arg51Gln) SNV risk factor 5061 rs34911341 GRCh37: 3:10331519-10331519
GRCh38: 3:10289835-10289835
50 ENPP1 NM_006208.3(ENPP1):c.2101-11del Deletion risk factor 355347 rs397832689 GRCh37: 6:132203471-132203471
GRCh38: 6:131882331-131882331

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

72 (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 rs105751799
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:

7 (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

Expression for Body Mass Index Quantitative Trait Locus 11

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.

Pathways for Body Mass Index Quantitative Trait Locus 11

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

# Super pathways Score Top Affiliating Genes
1 12.21 UCP3 PPARG GLDC ENPP1 CARTPT
2 12.07 POMC GNAS GHRL ADRB2
4
Show member pathways
11.98 PPARG NR0B2 GNAS ADRB3 ADRB2
5 11.72 POMC MC4R GNAS ADRB3 ADRB2
6 11.47 GNAS ADRB3 ADRB2
7 11.3 GNAS ADRB3 ADRB2
8 10.49 SDC3 POMC MC4R AGRP
9 10.32 POMC MC4R GHRL CARTPT AGRP

GO Terms for Body Mass Index Quantitative Trait Locus 11

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

# Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 8.8 POMC CARTPT BRCA2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.97 PPARG POMC MC4R GNAS GHRL CARTPT
2 neuropeptide signaling pathway GO:0007218 9.77 POMC CARTPT AGRP
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.71 MC4R GNAS ADRB3 ADRB2
4 hormone-mediated signaling pathway GO:0009755 9.7 PPARG GHRL AGRP
5 generation of precursor metabolites and energy GO:0006091 9.69 POMC ENPP1 ADRB3
6 activation of adenylate cyclase activity GO:0007190 9.67 GNAS ADRB3 ADRB2
7 response to cold GO:0009409 9.63 UCP3