MCID: BDY004
MIFTS: 75

Body Mass Index Quantitative Trait Locus 11

Categories: Genetic diseases, Metabolic diseases, Endocrine diseases, Rare 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 53 28
Obesity 53 37 12 71 28 51 40 41 14 69
Obesity, Autosomal Dominant 53 28 13
Obesity, Severe, and Type Ii Diabetes 53 37
Obesity, Susceptibility to, Bmiq11 53 13
Obesity Due to Melanocortin 4 Receptor Deficiency 55
Obesity, Early-Onset, Susceptibility to 53
Obesity, Susceptibility to 53
Obesity, Mild, Early-Onset 53
Obesity, Association with 53
Obesity, Variation in 53
Obesity, Early-Onset 53
Obesity, Late-Onset 53
Obesity, Severe 53
Mc4r Deficiency 55
Obesity Bmiq11 53
Bmiq11 53

Characteristics:

Orphanet epidemiological data:

55
obesity due to melanocortin 4 receptor deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (France); Age of onset: Infancy,Neonatal;


Classifications:

Orphanet: 55  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:9970
ICD10 32 E66.9 E66 E66.0
ICD9CM 34 278.00
MeSH 41 D009765
NCIt 46 C3283
Orphanet 55 ORPHA71529
ICD10 via Orphanet 33 E66.8
UMLS 69 C0028754

Summaries for Body Mass Index Quantitative Trait Locus 11

MedlinePlus : 40 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 morbid obesity and body mass index quantitative trait locus 7, and has symptoms including obesity, hypertension and type ii diabetes mellitus. An important gene associated with Body Mass Index Quantitative Trait Locus 11 is MC4R (Melanocortin 4 Receptor), and among its related pathways/superpathways are DAG and IP3 signaling and Glucose / Energy Metabolism. Affiliated tissues include kidney, bone and heart, and related phenotypes are adipose tissue and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 300306 601665

Related Diseases for Body Mass Index Quantitative Trait Locus 11

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 867)
# Related Disease Score Top Affiliating Genes
1 morbid obesity 34.6 ADRB3 GHRL MC4R PPARG
2 body mass index quantitative trait locus 7 34.3 DDHD2 GLDC GNAS MC4R POLG
3 body mass index quantitative trait locus 8 34.3 DDHD2 GLDC GNAS MC4R POLG
4 body mass index quantitative trait locus 9 34.3 DDHD2 GLDC GNAS MC4R POLG
5 body mass index quantitative trait locus 14 34.3 DDHD2 GLDC GNAS MC4R POLG
6 body mass index quantitative trait locus 4 34.3 DDHD2 GLDC GNAS MC4R POLG
7 body mass index quantitative trait locus 12 34.3 DDHD2 GLDC GNAS MC4R POLG
8 body mass index quantitative trait locus 18 34.2 DDHD2 GLDC GNAS MC4R POLG
9 body mass index quantitative trait locus 10 34.2 DDHD2 GLDC GNAS MC4R POLG
10 prader-willi syndrome 33.5 AGRP GHRL MC4R POMC SIM1
11 diabetes mellitus, noninsulin-dependent 33.3 ADRB3 ENPP1 GHRL MC4R PPARG UCP1
12 eating disorder 33.0 GHRL MC4R POMC
13 pseudohypoparathyroidism, type ic 32.5 GNAS MC4R
14 overnutrition 31.8 ADRB3 AGRP GHRL MC4R POMC PPARG
15 glucose intolerance 31.7 ADRB3 GHRL PPARG
16 diabetes mellitus 31.6 ADRB3 ENPP1 PPARG PPARGC1B
17 bulimia nervosa 2 31.5 AGRP GHRL POMC
18 glucose metabolism disease 30.2 GHRL POMC PPARG
19 acromegaly 30.2 GHRL GNAS POMC
20 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.2
21 obesity, hyperphagia, and developmental delay 12.2
22 obesity-hypoventilation syndrome 12.2
23 morbid obesity and spermatogenic failure 12.2
24 abdominal obesity-metabolic syndrome 1 12.2
25 abdominal obesity-metabolic syndrome 3 12.2
26 retinal dystrophy and obesity 12.2
27 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.2
28 obesity due to congenital leptin deficiency 12.1
29 aniridia - ptosis - intellectual disability - familial obesity 12.0
30 abdominal obesity-metabolic syndrome quantitative trait locus 2 12.0
31 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.0
32 hydrocephalus obesity hypogonadism 12.0
33 leptin receptor deficiency 12.0
34 intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 12.0
35 proopiomelanocortin deficiency 12.0
36 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.0
37 leptin deficiency or dysfunction 11.9
38 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency 11.9
39 obesity due to sim1 deficiency 11.9
40 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 11.9
41 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.8
42 prolactin deficiency with obesity and enlarged testes 11.8
43 short stature-obesity syndrome 11.8
44 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 11.8
45 x-linked intellectual disability - short stature - obesity 11.8
46 cohen syndrome 11.8
47 momo syndrome 11.8
48 x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 11.7
49 intellectual disability-seizures-macrocephaly-obesity syndrome 11.7
50 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 11.7

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

Clinical features from OMIM:

300306 601665

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

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 55 31 Obligate (100%) HP:0001513
2 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
3 type ii diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0005978
4 hypertriglyceridemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002155
5 acanthosis nigricans 55 31 occasional (7.5%) Occasional (29-5%) HP:0000956
6 hyperinsulinemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000842
7 polyphagia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002591
8 increased adipose tissue 55 31 obligate (100%) Obligate (100%) HP:0009126
9 childhood-onset truncal obesity 55 31 frequent (33%) Frequent (79-30%) HP:0008915
10 decreased resting energy expenditure 31 HP:0012340

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


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

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

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.44 UCP3 ADRB2 ADRB3 AGRP CARTPT ENPP1
2 homeostasis/metabolism MP:0005376 10.43 ADRB2 ADRB3 AGRP CARTPT DDHD2 ENPP1
3 growth/size/body region MP:0005378 10.41 NR0B2 POLG POMC PPARG PPARGC1B SDC3
4 behavior/neurological MP:0005386 10.37 ADRB2 ADRB3 AGRP CARTPT DDHD2 ENPP1
5 endocrine/exocrine gland MP:0005379 10.24 NR0B2 POLG POMC PPARG SIM1 SLC6A14
6 cardiovascular system MP:0005385 10.16 ADRB2 ENPP1 GLDC GNAS MC4R POLG
7 hematopoietic system MP:0005397 10.16 ADRB2 CARTPT GNAS MC4R POLG POMC
8 immune system MP:0005387 10.1 SLC6A14 ADRB2 CARTPT ENPP1 GNAS MC4R
9 nervous system MP:0003631 10 MC4R POLG POMC PPARG SIM1 ADRB2
10 liver/biliary system MP:0005370 9.97 AGRP ENPP1 GNAS MC4R NR0B2 POMC
11 neoplasm MP:0002006 9.8 SLC6A14 GNAS MC4R POLG POMC PPARG
12 no phenotypic analysis MP:0003012 9.76 ADRB2 AGRP GNAS MC4R POLG POMC
13 normal MP:0002873 9.56 AGRP GHRL GNAS MC4R NR0B2 PPARG
14 skeleton MP:0005390 9.28 ADRB2 CARTPT ENPP1 GLDC GNAS MC4R

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 11

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 28 ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL MC4R NR0B2 POMC PPARG PPARGC1B SDC3 SIM1 UCP1 UCP3
2 Body Mass Index Quantitative Trait Locus 11 28 SLC6A14
3 Obesity, Autosomal Dominant 28

Anatomical Context for Body Mass Index Quantitative Trait Locus 11

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

38
Kidney, Bone, Heart

Publications for Body Mass Index Quantitative Trait Locus 11

Articles related to Body Mass Index Quantitative Trait Locus 11:

(show top 50) (show all 10885)
# Title Authors Year
1
Is There a Sex-Related Difference in the Obesity Paradox in Systolic Heart Failure? Sex-Related Difference in the Obesity Paradox. ( 29214777 )
2018
2
Neural respiratory drive and cardiac function in patients with obesity hypoventilation syndrome following initiation of non-invasive ventilation. ( 29445537 )
2018
3
Non-targeted profiling of circulating microRNAs in women with polycystic ovary syndrome (PCOS): effects of obesity and sex hormones. ( 29410349 )
2018
4
BMI and outcomes in melanoma: more evidence for the obesity paradox. ( 29449191 )
2018
5
Evaluation of nonalcoholic fatty liver disease using magnetic resonance in obese children and adolescents. ( 29438686 )
2018
6
NERO: a pilot study but important step towards comprehensive management of obesity hypoventilation syndrome. ( 29074813 )
2018
7
Level of maternal triglycerides is a predictor of fetal macrosomia in non-obese pregnant women with gestational diabetes mellitus. ( 29398554 )
2018
8
Inflammatory and Oxidative Responses in Pregnancies With Obesity and Periodontal Disease. ( 29343164 )
2018
9
Maternal obesity increases insulin resistance, low-grade inflammation and osteochondrosis lesions in foals and yearlings until 18 months of age. ( 29373573 )
2018
10
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study. ( 29271568 )
2018
11
Brown adipose tissue lipid metabolism in morbid obesity: Effect of bariatric surgery-induced weight loss. ( 29377423 )
2018
12
Risk factors and metabolic abnormality of patients with non-alcoholic fatty liver disease: Either non-obese or obese Chinese population. ( 29428103 )
2018
13
Aging-like physiological changes in the skin of Japanese obese diabetic patients. ( 29449943 )
2018
14
Association between Th1/Th2 immune imbalance and obesity in women with or without polycystic ovary syndrome. ( 29447491 )
2018
15
Nutrition and Exercise Rehabilitation in Obesity hypoventilation syndrome (NERO): a pilot randomised controlled trial. ( 28971973 )
2018
16
Is perceived intolerance to milk and wheat associated with the corresponding IgG and IgA food antibodies? A cross sectional study in subjects with morbid obesity and gastrointestinal symptoms. ( 29378512 )
2018
17
Cost-effectiveness analysis of bariatric surgery for morbid obesity in Belgium. ( 29271279 )
2018
18
Obesity and Dental Caries in Young Children in Plymouth, United Kingdom: A Spatial Analysis. ( 29380963 )
2018
19
Cost-Effectiveness Analysis of Bariatric Surgery for Morbid Obesity. ( 29335933 )
2018
20
Morbid obesity and type 2 diabetes alter intestinal fatty acid uptake and blood flow. ( 29352513 )
2018
21
Knowledge Gaps in the Perioperative Management of Adults with Obstructive Sleep Apnea and Obesity Hypoventilation Syndrome. An Official American Thoracic Society Workshop Report. ( 29388810 )
2018
22
Leptin-deficient obesity prolongs survival in a murine model of myelodysplastic syndrome. ( 29371326 )
2018
23
Evaluation of a Role for NPY and NPY2R in the Pathogenesis of Obesity by Mutation and Copy Number Variation Analysis in Obese Children and Adolescents. ( 28857123 )
2018
24
Effect of Laparoscopic Sleeve Gastrectomy vs Laparoscopic Roux-en-Y Gastric Bypass on Weight Loss at 5 Years Among Patients With Morbid Obesity: The SLEEVEPASS Randomized Clinical Trial. ( 29340676 )
2018
25
Association between FTO gene polymorphisms and type 2 diabetes mellitus, serum levels of apelin and androgen hormones among Iranian obese women. ( 29101069 )
2018
26
Quantitative CT Assessment of Gynecomastia in the General Population and in Dialysis, Cirrhotic, and Obese Patients. ( 29326049 )
2018
27
A Review of Childhood Behavioral Problems and Disorders in the Development of Obesity: Attention Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, and Beyond. ( 29411333 )
2018
28
Single Incision Versus Conventional Laparoscopic Sleeve Gastrectomy for Morbid Obesity: A Meta-Analysis. ( 29389227 )
2018
29
The development of hypothalamic obesity in craniopharyngioma patients: A risk factor analysis in a well-defined cohort. ( 29314661 )
2018
30
A Tuscan general with morbid obesity. ( 29404906 )
2018
31
Relationship between obesity and iron deficiency anemia: is there a role of hepcidin? ( 29318945 )
2018
32
Metabolic and hepatic effects of liraglutide, obeticholic acid and elafibranor in diet-induced obese mouse models of biopsy-confirmed nonalcoholic steatohepatitis. ( 29375204 )
2018
33
Role of peroxisome proliferator-activated receptor-gamma activation on visfatin, advanced glycation end products, and renal oxidative stress in obesity-induced type 2 diabetes mellitus. ( 29441829 )
2018
34
The usefulness of circulating levels of leptin, kisspeptin, and neurokinin B in obese girls with precocious puberty. ( 29303010 )
2018
35
Is atopic dermatitis associated with obesity? A systematic review of observational studies. ( 29444366 )
2018
36
Metabolic phenotype of male obesity-related secondary hypogonadism pre-replacement and post-replacement therapy with intra-muscular testosterone undecanoate therapy. ( 29396841 )
2018
37
Correction: Intestinal Ralstonia pickettii augments glucose intolerance in obesity. ( 29381738 )
2018
38
Stomach Intestinal Pylorus-Sparing Surgery for Morbid Obesity. ( 29398898 )
2018
39
Twist2 and CD24 expression alters renal microenvironment in obesity associated kidney cancer. ( 29424894 )
2018
40
Metformin influences on respiratory system in obese mice induced by postnatal overnutrition. ( 28963087 )
2018
41
Ghrelin concentration as an indicator of eating-disorder risk in obese women. ( 29395813 )
2018
42
Prevention and Management of Obesity in Children with Autism Spectrum Disorder Among Primary Care Pediatricians. ( 29450838 )
2018
43
No Obesity Paradox in Pediatric Patients With Dilated Cardiomyopathy. ( 29428438 )
2018
44
Association Between Obesity and Acute Severity Among Patients Hospitalized for Asthma Exacerbation. ( 29452277 )
2018
45
Genetic association analysis of vitamin D receptor gene polymorphisms and obesity-related phenotypes. ( 29032145 )
2018
46
Neutralization of IL-15 abrogates experimental immune-mediated cholangitis in diet-induced obese mice. ( 29449577 )
2018
47
Remission of Sjogren's Syndrome after Roux-en-Y Gastric Bypass for Morbid Obesity. ( 29248981 )
2018
48
Obesity-hypoventilation syndrome and associated factors. ( 28743403 )
2018
49
Effect of Laparoscopic Sleeve Gastrectomy vs Laparoscopic Roux-en-Y Gastric Bypass on Weight Loss in Patients With Morbid Obesity: The SM-BOSS Randomized Clinical Trial. ( 29340679 )
2018
50
Obesity negatively impacts outcome in elderly female patients with aggressive B-cell lymphomas treated with R-CHOP: results from prospective trials of the German high grade non-Hodgkin's lymphoma trial group. ( 29193018 )
2018

Variations for Body Mass Index Quantitative Trait Locus 11

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

71 (show all 30)
# 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 rs13447332
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 rs1057517991Obesity
26 MC4R p.Cys271Tyr VAR_038652 rs121913562
27 MC4R p.Ile316Ser VAR_038653 rs121913564
28 MC4R p.Leu325Phe VAR_038654
29 PPARG p.Pro113Gln VAR_010724 rs1800571
30 UCP3 p.Val102Ile VAR_004408 rs2229707

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

6 (show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-CYB m.15497G> A single nucleotide variant risk factor rs199951903 GRCh37 Chromosome MT, 15497: 15497
2 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
3 ENPP1 ENPP1, IVS20AS, 1-BP DEL, T, -11 deletion risk factor
4 ENPP1 NM_006208.2(ENPP1): c.517A> C (p.Lys173Gln) single nucleotide variant risk factor rs1044498 GRCh37 Chromosome 6, 132172368: 132172368
5 ENPP1 NM_006208.2(ENPP1): c.*1043A> G single nucleotide variant risk factor rs7754561 GRCh37 Chromosome 6, 132212694: 132212694
6 MC4R NM_005912.2(MC4R): c.861T> A (p.Tyr287Ter) single nucleotide variant Pathogenic rs121917829 GRCh37 Chromosome 18, 58038722: 58038722
7 MC4R MC4R, 4-BP DEL, NT631 deletion Pathogenic
8 MC4R MC4R, 4-BP INS, NT732 insertion Pathogenic
9 MC4R NM_005912.2(MC4R): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs121913557 GRCh37 Chromosome 18, 58039435: 58039435
10 MC4R NM_005912.2(MC4R): c.172A> T (p.Ser58Cys) single nucleotide variant Pathogenic rs121913558 GRCh37 Chromosome 18, 58039411: 58039411
11 MC4R NM_005912.2(MC4R): c.305T> G (p.Ile102Ser) single nucleotide variant Pathogenic rs121913559 GRCh37 Chromosome 18, 58039278: 58039278
12 MC4R NM_005912.2(MC4R): c.508A> G (p.Ile170Val) single nucleotide variant Pathogenic rs121913560 GRCh37 Chromosome 18, 58039075: 58039075
13 MC4R NM_005912.2(MC4R): c.821A> G (p.Asn274Ser) single nucleotide variant Pathogenic rs121913561 GRCh37 Chromosome 18, 58038762: 58038762
14 MC4R MC4R, 1-BP INS, 112A insertion Pathogenic
15 MC4R MC4R, 4-BP DEL, 211CTCT deletion Pathogenic
16 MC4R MC4R, 2-BP INS, 279GT insertion Pathogenic
17 MC4R MC4R, ILE125LYS undetermined variant Pathogenic
18 MC4R NM_005912.2(MC4R): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs121913562 GRCh37 Chromosome 18, 58038771: 58038771
19 MC4R NM_005912.2(MC4R): c.523G> A (p.Ala175Thr) single nucleotide variant Pathogenic rs121913563 GRCh37 Chromosome 18, 58039060: 58039060
20 MC4R NM_005912.2(MC4R): c.947T> G (p.Ile316Ser) single nucleotide variant Pathogenic rs121913564 GRCh37 Chromosome 18, 58038636: 58038636
21 MC4R NM_005912.2(MC4R): c.289A> G (p.Asn97Asp) single nucleotide variant Pathogenic rs121913565 GRCh37 Chromosome 18, 58039294: 58039294
22 MC4R NM_005912.2(MC4R): c.185A> G (p.Asn62Ser) single nucleotide variant Pathogenic rs121913566 GRCh37 Chromosome 18, 58039398: 58039398
23 MC4R MC4R, 15-BP DEL deletion Pathogenic
24 MC4R MC4R, 2-BP DEL, 750GA deletion Pathogenic
25 MC4R NM_005912.2(MC4R): c.656C> T (p.Ala219Val) single nucleotide variant Pathogenic rs121913567 GRCh37 Chromosome 18, 58038927: 58038927
26 ADRB3 NM_000025.2(ADRB3): c.190T> C (p.Trp64Arg) single nucleotide variant risk factor rs4994 GRCh37 Chromosome 8, 37823798: 37823798
27 ADRB2 NM_000024.5(ADRB2): c.79C> G (p.Gln27Glu) single nucleotide variant risk factor rs1042714 GRCh37 Chromosome 5, 148206473: 148206473
28 LEPR NM_002303.5(LEPR): c.2880C> G (p.Asn960Lys) single nucleotide variant Likely pathogenic rs193922650 GRCh37 Chromosome 1, 66102080: 66102080
29 MC4R NM_005912.2(MC4R): c.538T> C (p.Ser180Pro) single nucleotide variant Likely pathogenic rs193922685 GRCh37 Chromosome 18, 58039045: 58039045
30 MC4R NM_005912.2(MC4R): c.835_836dupTG (p.Phe280Alafs) duplication Pathogenic rs193922687 GRCh37 Chromosome 18, 58038747: 58038748
31 MC4R NM_005912.2(MC4R): c.896C> A (p.Pro299His) single nucleotide variant Pathogenic rs52804924 GRCh37 Chromosome 18, 58038687: 58038687
32 DDHD2 NM_015214.2(DDHD2): c.1978G> C (p.Asp660His) single nucleotide variant Pathogenic rs375168720 GRCh37 Chromosome 8, 38111160: 38111160
33 GHRL NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln) single nucleotide variant risk factor rs34911341 GRCh37 Chromosome 3, 10331519: 10331519
34 GHRL NM_001134944.1(GHRL): c.233A> T (p.Gln78Leu) single nucleotide variant risk factor rs4684677 GRCh37 Chromosome 3, 10328453: 10328453
35 NR0B2 NM_021969.2(NR0B2): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs74315349 GRCh37 Chromosome 1, 27240332: 27240332
36 NR0B2 NM_021969.2(NR0B2): c.583G> T (p.Ala195Ser) single nucleotide variant Pathogenic rs74315350 GRCh37 Chromosome 1, 27238527: 27238527
37 CARTPT NM_004291.3(CARTPT): c.183G> C (p.Leu61Phe) single nucleotide variant risk factor rs121909065 GRCh37 Chromosome 5, 71015730: 71015730
38 UCP3 NM_003356.3(UCP3): c.427C> T (p.Arg143Ter) single nucleotide variant Pathogenic rs104894319 GRCh37 Chromosome 11, 73716889: 73716889
39 UCP3 NM_003356.3(UCP3): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic rs17848368 GRCh37 Chromosome 11, 73717343: 73717343
40 POLG NM_002693.2(POLG): c.1270_1271delCT (p.Leu424Glyfs) deletion Pathogenic rs796052908 GRCh37 Chromosome 15, 89870560: 89870561
41 MC4R NM_005912.2(MC4R): c.206T> G (p.Ile69Arg) single nucleotide variant Pathogenic rs751160202 GRCh38 Chromosome 18, 60372144: 60372144
42 MC4R NM_005912.2(MC4R): c.751A> C (p.Ile251Leu) single nucleotide variant protective rs52820871 GRCh38 Chromosome 18, 60371599: 60371599
43 MC4R NM_005912.2(MC4R): c.307G> A (p.Val103Ile) single nucleotide variant protective rs2229616 GRCh38 Chromosome 18, 60372043: 60372043
44 MC4R NM_005912.2(MC4R): c.494G> A (p.Arg165Gln) single nucleotide variant Likely pathogenic rs747681609 GRCh38 Chromosome 18, 60371856: 60371856
45 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866
46 MC4R NM_005912.2(MC4R): c.750_751delGA (p.Ile251Trpfs) deletion Pathogenic rs13447339 GRCh38 Chromosome 18, 60371599: 60371600
47 MC4R NM_005912.2(MC4R): c.181G> A (p.Glu61Lys) single nucleotide variant Pathogenic/Likely pathogenic rs370479598 GRCh37 Chromosome 18, 58039402: 58039402

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

7 (show top 50) (show all 193)
# CNVD ID Chromosom 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 ZNF37B Obesity
18 42902 10 42100000 64800000 Deletion or duplicat ion PPYR1 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 TRIM53 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

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
Show member pathways
12.82 ADRB2 ADRB3 GNAS POMC PPARG UCP1
2 12.12 CARTPT ENPP1 GLDC PPARG UCP1 UCP3
4
Show member pathways
11.98 ADRB2 ADRB3 GNAS NR0B2 PPARG
5 11.52 ADRB2 ADRB3 GNAS MC4R POMC
6 11.36 ADRB2 ADRB3 GNAS
7 11.23 ADRB2 ADRB3 GNAS
8
Show member pathways
10.63 UCP1 UCP3
9 10.15 AGRP MC4R POMC SDC3

GO Terms for Body Mass Index Quantitative Trait Locus 11

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.92 ADRB2 ADRB3 CARTPT POMC
2 neuropeptide signaling pathway GO:0007218 9.79 AGRP CARTPT POMC
3 response to insulin GO:0032868 9.77 AGRP MC4R UCP3
4 generation of precursor metabolites and energy GO:0006091 9.73 ADRB3 ENPP1 POMC
5 adenylate cyclase-modulating G-protein coupled receptor signaling pathway GO:0007188 9.72 ADRB2 ADRB3 MC4R
6 activation of adenylate cyclase activity GO:0007190 9.71 ADRB2 ADRB3 GNAS
7 positive regulation of osteoclast differentiation GO:0045672 9.63 GNAS PPARGC1B
8 cellular response to prostaglandin E stimulus GO:0071380 9.62 GNAS PPARG
9 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.62 ADRB2 ADRB3 GNAS MC4R
10 positive regulation of bone resorption GO:0045780 9.61 MC4R PPARGC1B
11 brown fat cell differentiation GO:0050873 9.61 ADRB2 ADRB3 UCP1
12 regulation of feeding behavior GO:0060259 9.6 AGRP MC4R
13 adrenergic receptor signaling pathway GO:0071875 9.58 ADRB2 ADRB3
14 positive regulation of feeding behavior GO:2000253 9.58 AGRP GHRL
15 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.58 ADRB2 ADRB3 GNAS
16 adaptive thermogenesis GO:1990845 9.57 UCP1 UCP3
17 energy reserve metabolic process GO:0006112 9.54 ADRB3 GNAS MC4R
18 heat generation GO:0031649 9.52 ADRB2 ADRB3
19 norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure GO:0002025 9.51 ADRB2 ADRB3
20 desensitization of G-protein coupled receptor protein signaling pathway by arrestin GO:0002032 9.49 ADRB2 ADRB3
21 mitochondrial transmembrane transport GO:1990542 9.48 UCP1 UCP3
22 negative regulation of multicellular organism growth GO:0040015 9.43 ADRB2 ADRB3 GNAS
23 response to cold GO:0009409 9.35 ADRB2 ADRB3 PPARG UCP1 UCP3
24 adult feeding behavior GO:0008343 9.33 AGRP CARTPT GHRL
25 diet induced thermogenesis GO:0002024 8.92 ADRB2 ADRB3 MC4R UCP1
26 G-protein coupled receptor signaling pathway GO:0007186 10.06 ADRB2 ADRB3 CARTPT GHRL GNAS MC4R

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 adrenergic receptor activity GO:0004935 9.37 ADRB2 ADRB3
2 retinoid X receptor binding GO:0046965 9.32 NR0B2 PPARG
3 epinephrine binding GO:0051379 9.26 ADRB2 ADRB3
4 norepinephrine binding GO:0051380 9.16 ADRB2 ADRB3
5 oxidative phosphorylation uncoupler activity GO:0017077 8.96 UCP1 UCP3
6 neuropeptide hormone activity GO:0005184 8.8 AGRP CARTPT POMC

Sources for Body Mass Index Quantitative Trait Locus 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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