BMIQ20
MCID: BDY021
MIFTS: 50

Body Mass Index Quantitative Trait Locus 20 (BMIQ20)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Body Mass Index Quantitative Trait Locus 20

MalaCards integrated aliases for Body Mass Index Quantitative Trait Locus 20:

Name: Body Mass Index Quantitative Trait Locus 20 57 6
Melanocortin 4 Receptor Deficiency 57
Mc4r Deficiency 57
Obesity 57
Bmiq20 57

Characteristics:

OMIM:

57
Miscellaneous:
variable penetrance
mc4r deficiency is associated with severe early-onset obesity
gain-of-function mc4r variants are associated with resistance to obesity
variable associated features
increased body weight within 1st year of life in most patients
homozygotes have higher mean percentage body fat than heterozygotes

Inheritance:
autosomal dominant autosomal recessive


Classifications:



External Ids:

OMIM 57 618406

Summaries for Body Mass Index Quantitative Trait Locus 20

OMIM : 57 Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia (Farooqi et al., 2003). (618406)

MalaCards based summary : Body Mass Index Quantitative Trait Locus 20, also known as melanocortin 4 receptor deficiency, is related to body mass index quantitative trait locus 11 and obesity, early-onset, with adrenal insufficiency and red hair. An important gene associated with Body Mass Index Quantitative Trait Locus 20 is MC4R (Melanocortin 4 Receptor). The drugs Oseltamivir and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and breast.

Related Diseases for Body Mass Index Quantitative Trait Locus 20

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 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2059)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 11 12.8
2 obesity, early-onset, with adrenal insufficiency and red hair 12.7
3 morbid obesity and spermatogenic failure 12.6
4 obesity-hypoventilation syndrome 12.6
5 genetic obesity 12.5
6 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.5
7 obesity, hyperphagia, and developmental delay 12.5
8 abdominal obesity-metabolic syndrome 1 12.5
9 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.5
10 retinal dystrophy and obesity 12.5
11 leptin deficiency or dysfunction 12.5
12 obesity due to congenital leptin deficiency 12.5
13 abdominal obesity-metabolic syndrome 3 12.5
14 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.5
15 developmental delay, intellectual disability, obesity, and dysmorphism 12.5
16 hypothalamic obesity 12.4
17 hydrocephalus obesity hypogonadism 12.4
18 x-linked intellectual disability - short stature - obesity 12.4
19 body mass index quantitative trait locus 19 12.4
20 leptin receptor deficiency 12.3
21 abdominal obesity-metabolic syndrome quantitative trait locus 2 12.3
22 aniridia - ptosis - intellectual disability - familial obesity 12.3
23 intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 12.3
24 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.2
25 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.2
26 short stature-obesity syndrome 12.2
27 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 12.2
28 prolactin deficiency with obesity and enlarged testes 12.2
29 obesity due to congenital leptin resistance 12.2
30 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency 12.2
31 obesity due to sim1 deficiency 12.2
32 wilson-turner x-linked mental retardation syndrome 12.2
33 syndromic obesity 12.2
34 body mass index quantitative trait locus 9 12.2
35 body mass index quantitative trait locus 12 12.2
36 body mass index quantitative trait locus 4 12.2
37 cohen syndrome 12.2
38 body mass index quantitative trait locus 14 12.2
39 body mass index quantitative trait locus 8 12.2
40 body mass index quantitative trait locus 7 12.2
41 body mass index quantitative trait locus 18 12.2
42 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.2
43 body mass index quantitative trait locus 10 12.1
44 proprotein convertase 1/3 deficiency 12.1
45 mehmo syndrome 12.1
46 genetic non-syndromic obesity 12.1
47 momo syndrome 12.1
48 chops syndrome 12.1
49 congenital leptin deficiency 12.0
50 genetic overgrowth/obesity syndrome 12.0

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



Diseases related to Body Mass Index Quantitative Trait Locus 20

Symptoms & Phenotypes for Body Mass Index Quantitative Trait Locus 20

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
increased bone mineral density
increased bone mineral content

Growth Weight:
early-onset obesity
increased lean body mass

Cardiovascular Vascular:
relatively low blood pressure for degree of obesity
lower diastolic blood pressure (gain-of-function variants)

Endocrine Features:
hyperinsulinemia at rate disproportionate to the degree of obesity
increased risk of type 2 diabetes

Growth Height:
increased linear growth

Cardiovascular Heart:
lower increase in heart rate upon waking
lower heart rate during euglycemic hyperinsulinemia
increased risk of coronary artery disease
lower resting heart rate (gain-of-function variants)
reduced risk of coronary artery disease (gain-of-function variants)

Abdomen Gastrointestinal:
hyperphagia (decreases with age)

Clinical features from OMIM:

618406

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 20

Drugs for Body Mass Index Quantitative Trait Locus 20 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1224)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 441411 12560
4
Vancomycin Approved Phase 4 1404-90-6 441141 14969
5
Lixisenatide Approved Phase 4 320367-13-3
6
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
7
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
8
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
9
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
10
Ticagrelor Approved Phase 4 274693-27-5 9871419
11
Tolnaftate Approved, Investigational, Vet_approved Phase 4 2398-96-1 5510
12
Dapsone Approved, Investigational Phase 4 80-08-0 2955
13
Caspofungin Approved Phase 4 179463-17-3, 162808-62-0 468682 2826718
14
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
15
Acetaminophen Approved Phase 4 103-90-2 1983
16
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
17
Meropenem Approved, Investigational Phase 4 119478-56-7, 96036-03-2 64778 441130
18
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
19
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
20
Adenosine Approved, Investigational Phase 4 58-61-7 60961
21
Dalteparin Approved Phase 4 9005-49-6
22
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
23
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
24
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
25
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
26
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
27
Enoxaparin Approved Phase 4 9005-49-6 772
28
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 5282452 6366718
29
Olmesartan Approved, Investigational Phase 4 144689-63-4, 144689-24-7 130881 158781
30
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
31
Histamine Approved, Investigational Phase 4 51-45-6 774
32
Infliximab Approved Phase 4 170277-31-3
33
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
34
Racepinephrine Approved Phase 4 329-65-7 838
35
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
36
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
37
Nadroparin Approved, Investigational Phase 4
38
Memantine Approved, Investigational Phase 4 19982-08-2 4054
39
Tigecycline Approved Phase 4 220620-09-7 5282044
40
Lactulose Approved Phase 4 4618-18-2 11333
41
Cefuroxime Approved Phase 4 55268-75-2 5361202 5479529
42
Ethambutol Approved Phase 4 74-55-5 3279 14052
43
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
44
Ziprasidone Approved Phase 4 146939-27-7 60854
45
Atenolol Approved Phase 4 29122-68-7 2249
46
Ferrous fumarate Approved Phase 4 141-01-5
47
Methylcobalamin Approved, Experimental, Investigational Phase 4 13422-55-4
48
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
49
Bilberry Approved, Experimental Phase 4
50
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883

Interventional clinical trials:

(show top 50) (show all 9874)
# Name Status NCT ID Phase Drugs
1 Double Blinded Randomised Trial Comparing Metformin Versus Placebo in NASH Patients Receiving Bariatric Surgery for Obesity Unknown status NCT00134303 Phase 4 Metformin
2 Effect of Bile Acids and Bile Acid Sequstrants on GLP-1 Secretion After Roux-en-Y Gastric Bypass Unknown status NCT02952963 Phase 4 Chenodeoxycholic Acid;Colesevelam
3 The Effect of Obesity in Dexmedetomidine Metabolic Clearance Unknown status NCT02557867 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 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
6 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)
7 The Effect of Vitamin A Supplementation on CD4+ T-cell Secretion in Obese Individuals Unknown status NCT01405352 Phase 4
8 Obesity Cohort : Medical Follow-up of Severe or Morbid Obese Patients Undergoing Bariatric Surgery Unknown status NCT02310178 Phase 4
9 Effects of Chenodeoxycholic Acid and Colesevelam on GLP-1 Secretion, During a Meal, After Roux-en-Y Gastric Bypass Unknown status NCT02876484 Phase 4 Colesevelam;Chenodeoxycholic Acid
10 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
11 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
12 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
13 Levonorgestrel-releasing Intrauterine Device Effects on Hemostatic and Arterial Function of Obese Women Unknown status NCT01320917 Phase 4
14 Prevention and Control of Obesity in Primary School Children in Tehran Unknown status NCT02082080 Phase 4
15 Prospective, Clinical Study of the Effect of Bariatric Surgery, Laparoscopic Sleeve Gastrectomy, on the Pharmacokinetics of Immunosuppressive Drugs in the Morbidly Obese, Kidney Transplant Candidate Unknown status NCT01913392 Phase 4
16 Healthy Opportunities for Physical Activity and Nutrition (HOP'N) After-School Project Unknown status NCT01015599 Phase 4
17 Impact of the Preservation of the Gastric Antrum in the Technique of Sleeve Gastrectomy for the Treatment of the Morbid Obesity: a Prospective,Controlled, Randomized, Multicentrique Study. Unknown status NCT01550601 Phase 4
18 Evaluation of Family Intervention Program for the Treatment of Overweight or Obese Children (Nereu Program): Randomized Clinical Trial Unknown status NCT01878994 Phase 4
19 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
20 Children's Healthy Living Program for Remote Underserved Minority Populations in the Pacific Region Unknown status NCT01881373 Phase 4
21 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
22 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
23 Beijing Chao-yang Hospital, Capital Medical University Unknown status NCT02583438 Phase 4 Saxagliptin (Bristol-Myers Squibb Company)
24 Randomisation to Endoluminal Intestinal Liner Alone Versus With Incretin Analogue in SustainEd Diabesity (REVISE-Diabesity) Unknown status NCT02055014 Phase 4 Liraglutide
25 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
26 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
27 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
28 The Therapeutic Effect of Catgut Embedding in Obesity-A Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02276235 Phase 4
29 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
30 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
31 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
32 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
33 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Unknown status NCT02959853 Phase 4 Anastrazole
34 Vitamin Deficiencies and Suppletion in Morbid Obesity Unknown status NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
35 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"
36 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
37 The Effect of Exenatide on Brown Adipose Tissue Activity and Energy Expenditure in Healthy Young Men Unknown status NCT03002675 Phase 4 Bydureon
38 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
39 What is the Effects of Prokinetic Drug on the Blood Glucose in Type 2 Diabetes Patients: Mosapride Comparing Placebo Unknown status NCT02606617 Phase 4 Mosapride;Placebo
40 Prospective Randomized Trials of Gastric Bypass Surgery in Patients With Type II Diabetes Mellitus Unknown status NCT00540462 Phase 4
41 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
42 Sildenafil Activates Browning of White Adipose and Improves Insulin Sensitivity in Human Adults Unknown status NCT02524184 Phase 4 sildenafil;placebo
43 Influence of the Aromatase Inhibitor Letrozole on Heart and Liver Function in Obese Men Unknown status NCT02097680 Phase 4 Letrozole;Placebo
44 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Unknown status NCT02933788 Phase 4 Cilostazol;Acetylsalicylic acid
45 Determining the Minimal Effective Volume (MEAV95) for Interscalene Brachial Plexus Block for Surgical Anesthesia Unknown status NCT01703130 Phase 4
46 Changes in Central Aortic Pressure, Endothelial Function and Biomarkers in African Americans With Cardiometabolic Syndrome: Comparison of Amlodipine/Olmesartan Versus Hydrochlorothiazide/Losartan Unknown status NCT01271374 Phase 4 amlodipine and olmesartan;losartan and HCTZ
47 Therapeutic Monitoring of Metformin in Women With Polycystic Ovary Syndrome Unknown status NCT01366391 Phase 4 Metformin
48 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
49 The Research About the Influence of Medical Interventions in the Period of Insulin Resistance on Prevalence of Abnormal Glucose Tolerance Unknown status NCT02502344 Phase 4 Metformin
50 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL OF THE SUPPLEMENTATION WITH KIOLIC® IN PATIENTS WITH DIAGNOSIS OF METABOLIC SYNDROME TO IMPROVE ENDOTHELIAL FUNCTION AND INFLAMMATORY STATE. "KYMES" Unknown status NCT01168700 Phase 4 aged garlic extract;Placebo

Search NIH Clinical Center for Body Mass Index Quantitative Trait Locus 20

Genetic Tests for Body Mass Index Quantitative Trait Locus 20

Anatomical Context for Body Mass Index Quantitative Trait Locus 20

MalaCards organs/tissues related to Body Mass Index Quantitative Trait Locus 20:

41
Liver, Heart, Breast, Brain, Testes, Kidney, Endothelial

Publications for Body Mass Index Quantitative Trait Locus 20

Articles related to Body Mass Index Quantitative Trait Locus 20:

(show top 50) (show all 30022)
# Title Authors PMID Year
1
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity. 8 71
31002796 2019
2
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 8 71
12646665 2003
3
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. 8 71
11487744 2001
4
A frameshift mutation in MC4R associated with dominantly inherited human obesity. 8 71
9771698 1998
5
A frameshift mutation in human MC4R is associated with a dominant form of obesity. 8 71
9771699 1998
6
Defective melanocortin 4 receptors in hyperphagia and morbid obesity. 38 8
12646673 2003
7
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. 38 71
12499395 2003
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. 8
19091795 2009
9
Modulation of blood pressure by central melanocortinergic pathways. 8
19092146 2009
10
Common genetic variation near MC4R is associated with waist circumference and insulin resistance. 8
18454146 2008
11
Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects. 71
16030156 2005
12
Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. 8
15805150 2005
13
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. 71
15486053 2005
14
Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations. 8
15037865 2004
15
A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans. 71
15126516 2004
16
Melanocortin-4 receptor gene variant I103 is negatively associated with obesity. 8
14973783 2004
17
Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults. 71
14764818 2004
18
Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. 71
14671178 2003
19
Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. 71
12970296 2003
20
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. 71
12588803 2003
21
Binge eating as a major phenotype of melanocortin 4 receptor gene mutations. 8
12646666 2003
22
A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. 71
11443223 2001
23
Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. 8
10577903 1999
24
Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. 71
10199800 1999
25
Living with obesity - existential experiences. 38
31411129 2019
26
Harnessing adipogenesis to prevent obesity. 38
30848691 2019
27
A network analysis of the causal attributions for obesity in children and adolescents and their parents. 38
31131625 2019
28
Phospholipid transfer protein (PLTP) deficiency attenuates high fat diet induced obesity and insulin resistance. 38
31220615 2019
29
Pathways linking obesity to neuropsychiatric disorders. 38
31200298 2019
30
Obesity, weight loss, and influence on telomere length: New insights for personalized nutrition. 38
31255876 2019
31
Stress Hormone and Oxidative Stress Biomarkers Link Obesity and Diabetes with Reduced Fertility Potential. 38
31210437 2019
32
Understanding the Role of the Gut Microbiome and Microbial Metabolites in Obesity and Obesity-Associated Metabolic Disorders: Current Evidence and Perspectives. 38
31175629 2019
33
Observational analysis of disparities in obesity in children in the UK: Has Leeds bucked the trend? 38
31022330 2019
34
Severe Obesity in the Pediatric Population: Current Concepts in Clinical Care. 38
31054014 2019
35
Fitness, physical activity, working memory, and neuroelectric activity in children with overweight/obesity. 38
31058358 2019
36
Novel anti-obesity effect of scutellarein and potential underlying mechanism of actions. 38
31228804 2019
37
Oxytocin and Vasopressin Systems in Obesity and Metabolic Health: Mechanisms and Perspectives. 38
31240613 2019
38
Mechanism of Glucagon-Like Peptide 1 Improvements in Type 2 Diabetes Mellitus and Obesity. 38
31124035 2019
39
Is there a relationship between PTSD and complicated obesity? A review of the literature. 38
31177066 2019
40
Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan. 38
31280340 2019
41
Ethnic Disparities in Adiposity: Focus on Non-alcoholic Fatty Liver Disease, Visceral, and Generalized Obesity. 38
31144261 2019
42
Anxiety-like behaviors and hippocampal nNOS in response to diet-induced obesity combined with exercise. 38
31124076 2019
43
Extrinsic and Intrinsic Immunometabolism Converge: Perspectives on Future Research and Therapeutic Development for Obesity. 38
30919312 2019
44
Estimating glomerular filtration rate in youth with obesity and type 2 diabetes: the iCARE study equation. 38
31049718 2019
45
How Group-Based Interventions Can Improve Services for People with Severe Obesity. 38
31062202 2019
46
Bacillus licheniformis, a potential probiotic, inhibits obesity by modulating colonic microflora in C57BL/6J mice model. 38
31211897 2019
47
The influence of bariatric surgery on oral drug bioavailability in patients with obesity: A systematic review. 38
31232513 2019
48
Management of overweight and obesity in primary care-A systematic overview of international evidence-based guidelines. 38
31286668 2019
49
Obesity and cancer: A mechanistic overview of metabolic changes in obesity that impact genetic instability. 38
31168912 2019
50
Gut microbiota and obesity-associated osteoarthritis. 38
31146016 2019

Variations for Body Mass Index Quantitative Trait Locus 20

ClinVar genetic disease variations for Body Mass Index Quantitative Trait Locus 20:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MC4R NM_005912.3(MC4R): c.750_751del (p.Ile251fs) deletion Pathogenic rs13447339 18:58038832-58038833 18:60371599-60371600
2 MC4R MC4R, 1-BP INS, 112A insertion Pathogenic
3 MC4R MC4R, 4-BP DEL, 211CTCT deletion Pathogenic
4 MC4R MC4R, 2-BP INS, 279GT insertion Pathogenic
5 MC4R MC4R, ILE125LYS undetermined variant Pathogenic
6 MC4R MC4R, 4-BP DEL, NT631 deletion Pathogenic
7 MC4R MC4R, 4-BP INS, NT732 insertion Pathogenic
8 MC4R NM_005912.3(MC4R): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs121913557 18:58039435-58039435 18:60372202-60372202
9 MC4R NM_005912.3(MC4R): c.172A> T (p.Ser58Cys) single nucleotide variant Pathogenic rs121913558 18:58039411-58039411 18:60372178-60372178
10 MC4R NM_005912.3(MC4R): c.305T> G (p.Ile102Ser) single nucleotide variant Pathogenic rs121913559 18:58039278-58039278 18:60372045-60372045
11 MC4R NM_005912.3(MC4R): c.508A> G (p.Ile170Val) single nucleotide variant Pathogenic rs121913560 18:58039075-58039075 18:60371842-60371842
12 MC4R NM_005912.3(MC4R): c.821A> G (p.Asn274Ser) single nucleotide variant Pathogenic rs121913561 18:58038762-58038762 18:60371529-60371529
13 MC4R NM_005912.3(MC4R): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs121913562 18:58038771-58038771 18:60371538-60371538
14 MC4R NM_005912.3(MC4R): c.523G> A (p.Ala175Thr) single nucleotide variant Pathogenic rs121913563 18:58039060-58039060 18:60371827-60371827
15 MC4R NM_005912.3(MC4R): c.861T> A (p.Tyr287Ter) single nucleotide variant Pathogenic rs121917829 18:58038722-58038722 18:60371489-60371489
16 MC4R NM_005912.3(MC4R): c.289A> G (p.Asn97Asp) single nucleotide variant Pathogenic rs121913565 18:58039294-58039294 18:60372061-60372061
17 MC4R NM_005912.3(MC4R): c.185A> G (p.Asn62Ser) single nucleotide variant Pathogenic rs121913566 18:58039398-58039398 18:60372165-60372165
18 MC4R MC4R, 15-BP DEL deletion Pathogenic
19 MC4R NM_005912.3(MC4R): c.656C> T (p.Ala219Val) single nucleotide variant Pathogenic rs121913567 18:58038927-58038927 18:60371694-60371694
20 MC4R NM_005912.3(MC4R): c.947T> G (p.Ile316Ser) single nucleotide variant Likely pathogenic rs121913564 18:58038636-58038636 18:60371403-60371403
21 MC4R NM_005912.3(MC4R): c.380C> T (p.Ser127Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs13447331 18:58039203-58039203 18:60371970-60371970

Expression for Body Mass Index Quantitative Trait Locus 20

Search GEO for disease gene expression data for Body Mass Index Quantitative Trait Locus 20.

Pathways for Body Mass Index Quantitative Trait Locus 20

GO Terms for Body Mass Index Quantitative Trait Locus 20

Sources for Body Mass Index Quantitative Trait Locus 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....