Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
BMIQ11
MCID: BDY004
MIFTS: 72

Body Mass Index Quantitative Trait Locus 11 (BMIQ11)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Body Mass Index Quantitative Trait Locus 11

About this section

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

Name: Body Mass Index Quantitative Trait Locus 11 58 30 41
Obesity 58 39 12 76 30 56 6 44 45 15 41 17 74
Obesity, Severe, and Type Ii Diabetes 58 39 6
Obesity, Early-Onset, Susceptibility to 58 6
Obesity, Susceptibility to, Bmiq11 58 13
Obesity, Mild, Early-Onset 58 6
Obesity, Association with 58 6
Obesity, Late-Onset 58 6
Obesity Due to Melanocortin 4 Receptor Deficiency 60
Obesity , Susceptibility to 6
Obesity, Susceptibility to 58
Obesity, Early-Onset 58
Mc4r Deficiency 60
Obesity, Severe 58
Obesity Bmiq11 58
Bmiq11 58

Characteristics:

Orphanet epidemiological data:

60
obesity due to melanocortin 4 receptor deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (France); Age of onset: Infancy,Neonatal;

HPO:

33
obesity:
Inheritance autosomal dominant inheritance autosomal recessive inheritance polygenic inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Endocrine diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare endocrine diseases


Sources

Summaries for Body Mass Index Quantitative Trait Locus 11

About this section
MedlinePlus : 44 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 diabetes mellitus, noninsulin-dependent and prader-willi syndrome, 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 Neuroscience and Glucose / Energy Metabolism. Affiliated tissues include liver, heart and bone, and related phenotypes are increased adipose tissue and polyphagia

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 : 76 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
Sources

Related Diseases for Body Mass Index Quantitative Trait Locus 11

About this section

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 1235)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, noninsulin-dependent 33.6 ADRB3 ENPP1 GHRL MC4R PPARG UCP3
2 prader-willi syndrome 33.5 AGRP GHRL MC4R POMC
3 eating disorder 33.1 GHRL MC4R POMC
4 glucose intolerance 33.0 ADRB3 GHRL PPARG
5 pseudohypoparathyroidism, type ic 32.4 GNAS MC4R
6 anorexia nervosa 31.6 AGRP GHRL MC4R POMC
7 overnutrition 31.6 ADRB3 AGRP GHRL MC4R POMC PPARG
8 3-hydroxyacyl-coa dehydrogenase deficiency 30.7 ADRB2 GHRL PPARG
9 acromegaly 30.5 GHRL GNAS POMC
10 glucose metabolism disease 30.4 GHRL POMC PPARG
11 obesity, early-onset, with adrenal insufficiency and red hair 12.6
12 morbid obesity and spermatogenic failure 12.5
13 obesity-hypoventilation syndrome 12.4
14 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.4
15 obesity, hyperphagia, and developmental delay 12.4
16 abdominal obesity-metabolic syndrome 1 12.4
17 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.4
18 retinal dystrophy and obesity 12.4
19 abdominal obesity-metabolic syndrome 3 12.4
20 leptin deficiency or dysfunction 12.4
21 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.4
22 developmental delay, intellectual disability, obesity, and dysmorphic features 12.4
23 hypothalamic obesity 12.3
24 x-linked intellectual disability - short stature - obesity 12.3
25 obesity due to congenital leptin deficiency 12.3
26 aniridia - ptosis - intellectual disability - familial obesity 12.2
27 abdominal obesity-metabolic syndrome quantitative trait locus 2 12.2
28 leptin receptor deficiency 12.2
29 hydrocephalus obesity hypogonadism 12.2
30 intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 12.2
31 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.1
32 obesity due to congenital leptin resistance 12.1
33 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency 12.1
34 obesity due to sim1 deficiency 12.1
35 body mass index quantitative trait locus 19 12.1
36 wilson-turner x-linked mental retardation syndrome 12.1
37 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.1
38 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.0
39 proprotein convertase 1/3 deficiency 12.0
40 cohen syndrome 12.0
41 prolactin deficiency with obesity and enlarged testes 12.0
42 short stature-obesity syndrome 12.0
43 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 12.0
44 genetic non-syndromic obesity 12.0
45 congenital leptin deficiency 11.9
46 momo syndrome 11.9
47 x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 11.9
48 intellectual disability-seizures-macrocephaly-obesity syndrome 11.9
49 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 11.9
50 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 11.9

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



Diseases related to Body Mass Index Quantitative Trait Locus 11
Sources

Symptoms & Phenotypes for Body Mass Index Quantitative Trait Locus 11

About this section

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

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased adipose tissue 60 33 obligate (100%) Obligate (100%) HP:0009126
2 polyphagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002591
3 childhood-onset truncal obesity 60 33 frequent (33%) Frequent (79-30%) HP:0008915
4 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
5 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
6 hypertriglyceridemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002155
7 acanthosis nigricans 60 33 occasional (7.5%) Occasional (29-5%) HP:0000956
8 hyperinsulinemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000842
9 obesity 60 33 Obligate (100%) HP:0001513
10 decreased resting energy expenditure 33 HP:0012340
11 increased waist to hip ratio 33 HP:0031819

Clinical features from OMIM:

300306 601665

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:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 ADRB2 ADRB3 AGRP BRCA2 CARTPT ENPP1
2 homeostasis/metabolism MP:0005376 10.36 ADRB2 ADRB3 AGRP BRCA2 CARTPT DDHD2
3 behavior/neurological MP:0005386 10.34 ADRB2 ADRB3 AGRP BRCA2 CARTPT DDHD2
4 adipose tissue MP:0005375 10.32 ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL
5 cardiovascular system MP:0005385 10.18 ADRB2 ENPP1 GLDC GNAS KCNH2 MC4R
6 endocrine/exocrine gland MP:0005379 10.16 ADRB2 ADRB3 BRCA2 CARTPT GHRL GNAS
7 nervous system MP:0003631 10.03 ADRB2 AGRP BRCA2 DDHD2 ENPP1 GLDC
8 liver/biliary system MP:0005370 9.91 AGRP ENPP1 GNAS MC4R NR0B2 POMC
9 neoplasm MP:0002006 9.8 BRCA2 GNAS MC4R POLG POMC PPARG
10 no phenotypic analysis MP:0003012 9.7 ADRB2 AGRP GNAS MC4R POLG POMC
11 normal MP:0002873 9.56 AGRP BRCA2 GHRL GNAS MC4R NR0B2
12 skeleton MP:0005390 9.28 ADRB2 BRCA2 CARTPT ENPP1 GLDC GNAS
Sources

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 11

About this section

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

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: obesity

Sources

Genetic Tests for Body Mass Index Quantitative Trait Locus 11

About this section

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

# Genetic test Affiliating Genes
1 Obesity 30 ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL NR0B2 POMC PPARG SDC3 UCP3
2 Body Mass Index Quantitative Trait Locus 11 30
Sources

Anatomical Context for Body Mass Index Quantitative Trait Locus 11

About this section

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

42
Liver, Heart, Bone, Kidney, Breast, Brain, Prostate
Sources

Publications for Body Mass Index Quantitative Trait Locus 11

About this section

Articles related to Body Mass Index Quantitative Trait Locus 11:

(show top 50) (show all 3035)
# Title Authors Year
1
Untangling the obesity paradox in patients with acute myocardial infarction after primary percutaneous coronary intervention (detail analysis by age). ( 30665801 )
2019
2
Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking. ( 30885219 )
2019
3
Acute pancreatitis and obesity: where is the problem? ( 30888766 )
2019
4
Obesity Aggravates Acute Pancreatitis via Damaging Intestinal Mucosal Barrier and Changing Microbiota Composition in Rats. ( 30635594 )
2019
5
The association between obesity and outcomes in acute pancreatitis: an individual patient data meta-analysis. ( 30399003 )
2019
6
Sarcopenia and sarcopenic obesity are independent adverse prognostic factors in resectable pancreatic ductal adenocarcinoma. ( 31059520 )
2019
7
Obesity is a common soil for premature cardiac aging and heart diseases - Role of autophagy. ( 31109454 )
2019
8
Profiling obesity phenotypes and trajectories in older adults of the Quebec NuAge cohort on nutrition and successful aging: A cluster analysis. ( 30695177 )
2019
9
Positive views of aging reduce risk of developing later-life obesity. ( 30705805 )
2019
10
Sympathetic nervous system as a target for aging and obesity-related cardiovascular diseases. ( 30519806 )
2019
11
Obesity and adiposity indicators in asthma and allergic rhinitis in children. ( 30507714 )
2019
12
Alpha-1 Antitrypsin Deficiency Liver Disease, Mutational Homogeneity Modulated by Epigenetic Heterogeneity With Links to Obesity. ( 30681738 )
2019
13
Suboptimal bone microarchitecure in adolescent girls with obesity compared to normal-weight controls and girls with anorexia nervosa. ( 30853658 )
2019
14
Adolescent males with atypical anorexia nervosa and premorbid obesity: three case reports. ( 31054131 )
2019
15
Influence of Anxiety/Depression on the Subjective Evaluation of Cough in Patients with Chronic Obstructive Pulmonary Disease and Obesity. ( 31091811 )
2019
16
Obesity-Induced Cellular Senescence Drives Anxiety and Impairs Neurogenesis. ( 31067450 )
2019
17
Binge eating and social anxiety in treatment-seeking adolescents with eating disorders or severe obesity. ( 31020481 )
2019
18
Factors associated with depression and anxiety symptoms among children seeking treatment for obesity: A social-ecological approach. ( 30990254 )
2019
19
Obesity and anxiety symptoms: a systematic review and meta-analysis. ( 30778841 )
2019
20
Lactobacillus sakei Alleviates High-fat Diet-induced Obesity and Anxiety in Mice by Inducing AMPK Activation and SIRT1 Expression and Inhibiting Gut Microbiota-mediated NF-κB Activation. ( 30636176 )
2019
21
Anxiety in obesity: Is neuroinflammation the critical link? ( 30654006 )
2019
22
Obesity-Induced Cellular Senescence Drives Anxiety and Impairs Neurogenesis. ( 30612898 )
2019
23
Comparing anxiety and depression to obesity and smoking as predictors of major medical illnesses and somatic symptoms. ( 30556708 )
2019
24
Brain tumor necrosis factor-α mediates anxiety-like behavior in a mouse model of severe obesity. ( 30508579 )
2019
25
Perforated appendicitis in the setting of a massive ventral hernia, morbid obesity, and multiple severe comorbidities: challenges in acute management. ( 30740533 )
2019
26
Rural-Urban Variation in Weight Loss Recommendations Among US Older Adults with Arthritis and Obesity. ( 30884784 )
2019
27
Weight loss improves disease activity in patients with psoriatic arthritis and obesity: an interventional study. ( 30635024 )
2019
28
Obesity and Laboratory Aspirin Resistance in High Risk Pregnant Women Treated with Low Dose Aspirin. ( 30786253 )
2019
29
Functional state of the small airways in patients with bronchial asthma associated with obesity. ( 31090373 )
2019
30
The Association between Asthma and Obesity in Children - Inflammatory and Mechanical Factors. ( 31110576 )
2019
31
Obesity affects peripheral lymphoid organs immune response in murine asthma model. ( 31112301 )
2019
32
Elucidation of causal direction between asthma and obesity: a bi-directional Mendelian randomization study. ( 31005996 )
2019
33
Obesity causes pulmonary dysbiosis affecting innate immune response in murine asthma model. ( 31006120 )
2019
34
Asthma and obesity in the Middle East region: An overview. ( 31007762 )
2019
35
Asthma and obesity as predictors of severe obstructive sleep apnea in an adolescent pediatric population. ( 31026081 )
2019
36
Association between overweight or obesity and the risk for childhood asthma and wheeze: An updated meta-analysis on 18 articles and 73 252 children. ( 31033249 )
2019
37
Childhood obesity is associated with higher incidence of paediatric onset asthma. ( 31036698 )
2019
38
Omega-3 Fatty Acids for Obesity and Asthma: Is the Good Fat Not Quite Good Enough? ( 31042092 )
2019
39
Reply: Weight Loss in Individuals with Obesity and Asthma. ( 30969783 )
2019
40
Weight Loss in Individuals with Obesity and Asthma. ( 30969796 )
2019
41
Association between abdominal obesity and asthma: a meta-analysis. ( 30949213 )
2019
42
Older age and obesity are associated with increased airway closure in response to methacholine in patients with asthma. ( 30838750 )
2019
43
The role of antimicrobial treatment during pregnancy on the neonatal gut microbiome and the development of atopy, asthma, allergy and obesity in childhood. ( 30739516 )
2019
44
Exposure to indoor endocrine-disrupting chemicals and childhood asthma and obesity. ( 30740706 )
2019
45
Obesity Trends among Asthma Patients in the United States: A Population-based Study. ( 30741512 )
2019
46
MAP(kinase)-ing a Link between Obesity and Inflammation in Severe Asthma. ( 30673504 )
2019
47
Diet and Metabolism in the Evolution of Asthma and Obesity. ( 30691720 )
2019
48
Obesity and asthma. ( 30700407 )
2019
49
Association between asthma, obesity, and health behaviors in African American youth. ( 30702005 )
2019
50
Increased eosinophil uptake in the lungs of obese patients with asthma-to correct for obesity compared to obese controls. ( 30639068 )
2019
Sources

Variations for Body Mass Index Quantitative Trait Locus 11

About this section

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

76 (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 rs105751799
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 top 50) (show all 205)
# Gene Variation Type Significance SNP ID Assembly Location
1 GHRL NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln) single nucleotide variant risk factor rs34911341 GRCh37 Chromosome 3, 10331519: 10331519
2 GHRL NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln) single nucleotide variant risk factor rs34911341 GRCh38 Chromosome 3, 10289835: 10289835
3 GHRL NM_001134944.1(GHRL): c.233A> T (p.Gln78Leu) single nucleotide variant risk factor rs4684677 GRCh37 Chromosome 3, 10328453: 10328453
4 GHRL NM_001134944.1(GHRL): c.233A> T (p.Gln78Leu) single nucleotide variant risk factor rs4684677 GRCh38 Chromosome 3, 10286769: 10286769
5 NR0B2 NM_021969.2(NR0B2): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs74315349 GRCh37 Chromosome 1, 27240332: 27240332
6 NR0B2 NM_021969.2(NR0B2): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs74315349 GRCh38 Chromosome 1, 26913841: 26913841
7 NR0B2 NM_021969.2(NR0B2): c.583G> T (p.Ala195Ser) single nucleotide variant Pathogenic rs74315350 GRCh37 Chromosome 1, 27238527: 27238527
8 NR0B2 NM_021969.2(NR0B2): c.583G> T (p.Ala195Ser) single nucleotide variant Pathogenic rs74315350 GRCh38 Chromosome 1, 26912036: 26912036
9 CARTPT NM_004291.3(CARTPT): c.183G> C (p.Leu61Phe) single nucleotide variant risk factor rs121909065 GRCh37 Chromosome 5, 71015730: 71015730
10 CARTPT NM_004291.3(CARTPT): c.183G> C (p.Leu61Phe) single nucleotide variant risk factor rs121909065 GRCh38 Chromosome 5, 71719903: 71719903
11 AGRP NM_001138.1(AGRP): c.199G> A (p.Ala67Thr) single nucleotide variant association rs5030980 GRCh37 Chromosome 16, 67516945: 67516945
12 AGRP NM_001138.1(AGRP): c.199G> A (p.Ala67Thr) single nucleotide variant association rs5030980 GRCh38 Chromosome 16, 67483042: 67483042
13 UCP3 NM_003356.3(UCP3): c.304G> A (p.Val102Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs2229707 GRCh37 Chromosome 11, 73717247: 73717247
14 UCP3 NM_003356.3(UCP3): c.304G> A (p.Val102Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs2229707 GRCh38 Chromosome 11, 74006202: 74006202
15 UCP3 NM_003356.3(UCP3): c.427C> T (p.Arg143Ter) single nucleotide variant Pathogenic rs104894319 GRCh37 Chromosome 11, 73716889: 73716889
16 UCP3 NM_003356.3(UCP3): c.427C> T (p.Arg143Ter) single nucleotide variant Pathogenic rs104894319 GRCh38 Chromosome 11, 74005844: 74005844
17 UCP3 NM_003356.3(UCP3): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic rs17848368 GRCh37 Chromosome 11, 73717343: 73717343
18 UCP3 NM_003356.3(UCP3): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic rs17848368 GRCh38 Chromosome 11, 74006298: 74006298
19 PPARG NM_015869.4(PPARG): c.1484C> T (p.Pro495Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909244 GRCh37 Chromosome 3, 12475610: 12475610
20 PPARG NM_015869.4(PPARG): c.1484C> T (p.Pro495Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909244 GRCh38 Chromosome 3, 12434111: 12434111
21 PPARG NM_015869.4(PPARG): c.1431C> T (p.His477=) single nucleotide variant Likely benign rs3856806 GRCh37 Chromosome 3, 12475557: 12475557
22 PPARG NM_015869.4(PPARG): c.1431C> T (p.His477=) single nucleotide variant Likely benign rs3856806 GRCh38 Chromosome 3, 12434058: 12434058
23 PYY NM_004160.5(PYY): c.185A> C (p.Gln62Pro) single nucleotide variant Uncertain significance rs267606994 GRCh37 Chromosome 17, 42030667: 42030667
24 PYY NM_004160.5(PYY): c.185A> C (p.Gln62Pro) single nucleotide variant Uncertain significance rs267606994 GRCh38 Chromosome 17, 43953299: 43953299
25 MT-CYB m.15497G> A single nucleotide variant Likely benign rs199951903 GRCh37 Chromosome MT, 15497: 15497
26 MT-CYB m.15497G> A single nucleotide variant Likely benign rs199951903 GRCh38 Chromosome MT, 15497: 15497
27 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
28 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh38 Chromosome 9, 6589230: 6589230
29 SDC3 NM_014654.3(SDC3): c.986C> T (p.Thr329Ile) single nucleotide variant association rs2282440 GRCh37 Chromosome 1, 31347320: 31347320
30 SDC3 NM_014654.3(SDC3): c.986C> T (p.Thr329Ile) single nucleotide variant association rs2282440 GRCh38 Chromosome 1, 30874473: 30874473
31 SDC3 NM_014654.3(SDC3): c.622G> A (p.Val208Ile) single nucleotide variant association rs2491132 GRCh37 Chromosome 1, 31349647: 31349647
32 SDC3 NM_014654.3(SDC3): c.622G> A (p.Val208Ile) single nucleotide variant association rs2491132 GRCh38 Chromosome 1, 30876800: 30876800
33 POMC NM_001035256.2(POMC): c.706C> G (p.Arg236Gly) single nucleotide variant Uncertain significance rs28932472 GRCh37 Chromosome 2, 25384048: 25384048
34 POMC NM_001035256.2(POMC): c.706C> G (p.Arg236Gly) single nucleotide variant Uncertain significance rs28932472 GRCh38 Chromosome 2, 25161179: 25161179
35 ENPP1 ENPP1, IVS20AS, 1-BP DEL, T, -11 deletion risk factor
36 ENPP1 NM_006208.3(ENPP1): c.517A> C (p.Lys173Gln) single nucleotide variant Benign rs1044498 GRCh37 Chromosome 6, 132172368: 132172368
37 ENPP1 NM_006208.3(ENPP1): c.517A> C (p.Lys173Gln) single nucleotide variant Benign rs1044498 GRCh38 Chromosome 6, 131851228: 131851228
38 ENPP1 NM_006208.3(ENPP1): c.*1043A> G single nucleotide variant Benign rs7754561 GRCh37 Chromosome 6, 132212694: 132212694
39 ENPP1 NM_006208.3(ENPP1): c.*1043A> G single nucleotide variant Benign rs7754561 GRCh38 Chromosome 6, 131891554: 131891554
40 MC4R NM_005912.2(MC4R): c.105C> A (p.Tyr35Ter) single nucleotide variant Pathogenic rs13447324 GRCh37 Chromosome 18, 58039478: 58039478
41 MC4R NM_005912.2(MC4R): c.105C> A (p.Tyr35Ter) single nucleotide variant Pathogenic rs13447324 GRCh38 Chromosome 18, 60372245: 60372245
42 MC4R NM_005912.2(MC4R): c.110A> T (p.Asp37Val) single nucleotide variant Likely benign rs13447325 GRCh37 Chromosome 18, 58039473: 58039473
43 MC4R NM_005912.2(MC4R): c.110A> T (p.Asp37Val) single nucleotide variant Likely benign rs13447325 GRCh38 Chromosome 18, 60372240: 60372240
44 MC4R NM_005912.2(MC4R): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs121913562 GRCh37 Chromosome 18, 58038771: 58038771
45 MC4R NM_005912.2(MC4R): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs121913562 GRCh38 Chromosome 18, 60371538: 60371538
46 MC4R NM_005912.2(MC4R): c.523G> A (p.Ala175Thr) single nucleotide variant Pathogenic rs121913563 GRCh37 Chromosome 18, 58039060: 58039060
47 MC4R NM_005912.2(MC4R): c.523G> A (p.Ala175Thr) single nucleotide variant Pathogenic rs121913563 GRCh38 Chromosome 18, 60371827: 60371827
48 MC4R NM_005912.2(MC4R): c.380C> T (p.Ser127Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs13447331 GRCh37 Chromosome 18, 58039203: 58039203
49 MC4R NM_005912.2(MC4R): c.380C> T (p.Ser127Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs13447331 GRCh38 Chromosome 18, 60371970: 60371970
50 KCNH2 NM_000238.3(KCNH2): c.1682C> T (p.Ala561Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912504 GRCh37 Chromosome 7, 150648799: 150648799

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
Sources

Expression for Body Mass Index Quantitative Trait Locus 11

About this section
Search GEO for disease gene expression data for Body Mass Index Quantitative Trait Locus 11.
Sources

Pathways for Body Mass Index Quantitative Trait Locus 11

About this section

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

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
12.27 ADRB2 CARTPT POMC SCN1A
2
Glucose / Energy Metabolism 4
12.12 CARTPT ENPP1 GLDC KCNH2 PPARG UCP3
4
Development Ligand-independent activation of ESR1 and ESR2 23
Show member pathways
 11.98 ADRB2 ADRB3 GNAS NR0B2 PPARG
5
G alpha (s) signalling events 67
11.52 ADRB2 ADRB3 GNAS MC4R POMC
6
Renin secretion 38
11.38 ADRB2 ADRB3 GNAS
7
Regulation of lipolysis in adipocytes 38
11.24 ADRB2 ADRB3 GNAS
8
Syndecan-3-mediated signaling events 1
10.15 AGRP MC4R POMC SDC3
Sources

GO Terms for Body Mass Index Quantitative Trait Locus 11

About this section

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 BRCA2 CARTPT POMC

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of angiogenesis GO:0016525 9.8 GHRL MIR143 PPARG
2 neuropeptide signaling pathway GO:0007218 9.77 AGRP CARTPT POMC
3 response to insulin GO:0032868 9.73 AGRP MC4R UCP3
4 hormone-mediated signaling pathway GO:0009755 9.7 AGRP GHRL PPARG
5 generation of precursor metabolites and energy GO:0006091 9.69 ADRB3 ENPP1 POMC
6 response to cold GO:0009409 9.67 ADRB2 PPARG UCP3
7 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.67 ADRB2 ADRB3 GNAS MC4R
8 regulation of smooth muscle contraction GO:0006940 9.62 ADRB2 MIR143
9 positive regulation of cold-induced thermogenesis GO:0120162 9.62 ADRB2 ADRB3 GHRL GNAS
10 cellular response to prostaglandin E stimulus GO:0071380 9.61 GNAS PPARG
11 membrane depolarization during action potential GO:0086010 9.61 KCNH2 SCN1A
12 activation of adenylate cyclase activity GO:0007190 9.61 ADRB2 ADRB3 GNAS
13 negative regulation of glucose import GO:0046325 9.59 ENPP1 MIR143
14 negative regulation of multicellular organism growth GO:0040015 9.58 ADRB2 GNAS
15 regulation of feeding behavior GO:0060259 9.58 AGRP MC4R
16 response to nutrient GO:0007584 9.57 PPARG UCP3
17 diet induced thermogenesis GO:0002024 9.55 ADRB2 MC4R
18 positive regulation of feeding behavior GO:2000253 9.54 AGRP GHRL
19 desensitization of G protein-coupled receptor signaling pathway by arrestin GO:0002032 9.48 ADRB2 ADRB3
20 norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure GO:0002025 9.46 ADRB2 ADRB3
21 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.43 ADRB2 ADRB3 GNAS
22 energy reserve metabolic process GO:0006112 9.33 ADRB3 GNAS MC4R
23 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.26 ADRB2 ADRB3 GNAS MC4R
24 adult feeding behavior GO:0008343 8.8 AGRP CARTPT GHRL
25 G protein-coupled receptor signaling pathway GO:0007186 10.01 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 protein homodimerization activity GO:0042803 9.73 ADRB2 ADRB3 ENPP1 GLDC KCNH2 NR0B2
2 adrenergic receptor activity GO:0004935 9.37 ADRB2 ADRB3
3 G protein-coupled receptor binding GO:0001664 9.33 GHRL GNAS POMC
4 retinoid X receptor binding GO:0046965 9.32 NR0B2 PPARG
5 epinephrine binding GO:0051379 8.96 ADRB2 ADRB3
6 norepinephrine binding GO:0051380 8.62 ADRB2 ADRB3
Sources

Sources for Body Mass Index Quantitative Trait Locus 11

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....