OBESITY
MCID: BDY004
MIFTS: 78

Body Mass Index Quantitative Trait Locus 11 (OBESITY)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic 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 57 29 40
Obesity 57 38 12 75 29 55 6 43 44 15 40 73
Obesity, Autosomal Dominant 57 29 13 6
Obesity, Severe, and Type Ii Diabetes 57 38 6
Obesity, Early-Onset, Susceptibility to 57 6
Obesity, Susceptibility to, Bmiq11 57 13
Obesity, Mild, Early-Onset 57 6
Obesity, Association with 57 6
Obesity, Variation in 57 6
Obesity, Late-Onset 57 6
Obesity Due to Melanocortin 4 Receptor Deficiency 59
Obesity , Susceptibility to 6
Obesity, Susceptibility to 57
Obesity, Early-Onset 57
Obesity, Severe 57
Mc4r Deficiency 59
Obesity Bmiq11 57
Bmiq11 57

Characteristics:

Orphanet epidemiological data:

59
obesity due to melanocortin 4 receptor deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (France); Age of onset: Infancy,Neonatal;


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:9970
ICD10 33 E66.9 E66 E66.0
ICD9CM 35 278.00
MeSH 44 D009765
NCIt 50 C3283
SNOMED-CT 68 5476005
Orphanet 59 ORPHA71529
ICD10 via Orphanet 34 E66.8
UMLS 73 C0028754

Summaries for Body Mass Index Quantitative Trait Locus 11

MedlinePlus : 43 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 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 MC4R (Melanocortin 4 Receptor), and among its related pathways/superpathways are DAG and IP3 signaling and Glucose / Energy Metabolism. Affiliated tissues include liver, heart and testes, and related phenotypes are obesity and hypertension

UniProtKB/Swiss-Prot : 75 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 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

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 1091)
# Related Disease Score Top Affiliating Genes
1 morbid obesity 34.2 ADRB3 GHRL MC4R PPARG
2 prader-willi syndrome 33.1 AGRP GHRL MC4R POMC SIM1
3 diabetes mellitus, noninsulin-dependent 32.9 ADRB3 ENPP1 GHRL MC4R PPARG UCP1
4 eating disorder 32.6 GHRL MC4R POMC
5 pseudohypoparathyroidism, type ic 32.1 GNAS MC4R
6 diabetes mellitus 32.0 ADRB3 ENPP1 GHRL PPARG PPARGC1B
7 glucose intolerance 31.5 ADRB3 GHRL PPARG
8 overnutrition 31.1 ADRB3 AGRP GHRL MC4R POMC PPARG
9 anorexia nervosa 31.1 AGRP GHRL MC4R POMC
10 maturity-onset diabetes of the young, type 1 30.4 ENPP1 NR0B2 PPARG
11 glucose metabolism disease 30.1 GHRL POMC PPARG
12 acromegaly 29.7 GHRL GNAS POMC
13 obesity, early-onset, with adrenal insufficiency and red hair 12.5
14 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.4
15 obesity-hypoventilation syndrome 12.4
16 morbid obesity and spermatogenic failure 12.4
17 abdominal obesity-metabolic syndrome 1 12.4
18 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.3
19 retinal dystrophy and obesity 12.3
20 abdominal obesity-metabolic syndrome 3 12.3
21 developmental delay, intellectual disability, obesity, and dysmorphic features 12.3
22 obesity, hyperphagia, and developmental delay 12.3
23 obesity due to congenital leptin deficiency 12.2
24 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.2
25 aniridia - ptosis - intellectual disability - familial obesity 12.2
26 abdominal obesity-metabolic syndrome quantitative trait locus 2 12.2
27 hydrocephalus obesity hypogonadism 12.2
28 x-linked intellectual disability - short stature - obesity 12.2
29 leptin receptor deficiency 12.2
30 intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 12.1
31 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.1
32 leptin deficiency or dysfunction 12.1
33 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency 12.0
34 obesity due to sim1 deficiency 12.0
35 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.0
36 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.0
37 body mass index quantitative trait locus 19 12.0
38 prolactin deficiency with obesity and enlarged testes 11.9
39 short stature-obesity syndrome 11.9
40 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 11.9
41 cohen syndrome 11.9
42 congenital leptin deficiency 11.9
43 momo syndrome 11.9
44 x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 11.9
45 intellectual disability-seizures-macrocephaly-obesity syndrome 11.9
46 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 11.9
47 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 11.9
48 wilson-turner x-linked mental retardation syndrome 11.8
49 proprotein convertase 1/3 deficiency 11.8
50 ayazi syndrome 11.8

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 Obligate (100%) HP:0001513
2 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
3 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
4 hypertriglyceridemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002155
5 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
6 hyperinsulinemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000842
7 polyphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002591
8 increased adipose tissue 59 32 obligate (100%) Obligate (100%) HP:0009126
9 childhood-onset truncal obesity 59 32 frequent (33%) Frequent (79-30%) HP:0008915
10 decreased resting energy expenditure 32 HP:0012340
11 increased waist to hip ratio 32 HP:0031819

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


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.31 ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL
2 behavior/neurological MP:0005386 10.25 ADRB2 ADRB3 AGRP CARTPT DDHD2 ENPP1
3 homeostasis/metabolism MP:0005376 10.23 ADRB2 ADRB3 AGRP CARTPT DDHD2 ENPP1
4 growth/size/body region MP:0005378 10.22 ADRB2 ADRB3 AGRP CARTPT ENPP1 GNAS
5 endocrine/exocrine gland MP:0005379 10.07 ADRB2 ADRB3 CARTPT GHRL GNAS NR0B2
6 liver/biliary system MP:0005370 9.76 AGRP ENPP1 GNAS MC4R NR0B2 POMC
7 no phenotypic analysis MP:0003012 9.5 ADRB2 AGRP GNAS MC4R POMC PPARG
8 normal MP:0002873 9.23 AGRP GHRL GNAS MC4R NR0B2 PPARG

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 29 ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL MC4R NR0B2 POMC PPARG PPARGC1B SDC3 SIM1 UCP1 UCP3
2 Body Mass Index Quantitative Trait Locus 11 29 SLC6A14
3 Obesity, Autosomal Dominant 29

Anatomical Context for Body Mass Index Quantitative Trait Locus 11

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

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

Publications for Body Mass Index Quantitative Trait Locus 11

Articles related to Body Mass Index Quantitative Trait Locus 11:

(show top 50) (show all 1004)
# Title Authors Year
1
Obesity and adiposity indicators in asthma and allergic rhinitis in children. ( 30507714 )
2019
2
Asthma, obesity and targeted interventions: an update. ( 30480592 )
2019
3
Obesity and adult asthma: diagnostic and management challenges. ( 30394901 )
2019
4
Obesity and childhood asthma. ( 30334826 )
2019
5
Fatty liver disease: is it nonalcoholic fatty liver disease or obesity-associated fatty liver disease? ( 30507644 )
2019
6
The deubiquitinating enzyme USP19 modulates adipogenesis and potentiates high-fat-diet-induced obesity and glucose intolerance in mice. ( 30386869 )
2019
7
The role of obesity in inflammatory bowel disease. ( 30352258 )
2019
8
DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study. ( 30382603 )
2019
9
Modeling the Mixed Effects of Living Standard and Consumer-oriented Behavior on Obesity. ( 30522575 )
2019
10
The Health Risks of Obesity Have Been Exaggerated. ( 30550506 )
2019
11
The Health Risks of Obesity Have Not Been Exaggerated. ( 30550507 )
2019
12
Adiponectin homolog novel osmotin protects obesity/diabetes-induced NAFLD by upregulating AdipoRs/PPARα signaling in ob/ob and db/db transgenic mouse models. ( 30473057 )
2019
13
The influence of high-intensity interval training on anthropometric variables of adults with overweight or obesity: a systematic review and network meta-analysis. ( 30450794 )
2019
14
Childhood Obesity and the Metabolic Syndrome. ( 30454749 )
2019
15
Sarcopenia and obesity. ( 30461451 )
2019
16
Fructose at the crossroads of the metabolic syndrome and obesity epidemics. ( 30468651 )
2019
17
A sweeping highlight of the literature examining social status, eating behavior, and obesity. ( 30470510 )
2019
18
Process evaluation of a cluster-randomised controlled trial of multi-component weight management programme in adults with intellectual disabilities and obesity. ( 30417575 )
2019
19
Corrigendum to "Effects of aerobic training, resistance training, or both on brain-derived neurotrophic factor in adolescents with obesity: The hearty randomized controlled trial" Physiology & Behavior, Volume 191, 1 July 2018, Pages 138-145. ( 30428994 )
2019
20
Building and Sustaining Community Capacity to Address Childhood Obesity: A 3-Year Mixed-Methods Case Study of a Community-Academic Advisory Board. ( 30431470 )
2019
21
Obesity-Related Foot Pain: Diagnosis and Surgical Planning. ( 30446041 )
2019
22
Is there a causal relationship between obesity and puberty? ( 30446301 )
2019
23
Obesity and Disparities in Human Papillomavirus Vaccination for U.S. Adolescent Girls and Young Women. ( 30446328 )
2019
24
The Role of Time Use Behaviors in the Risk of Obesity among Low-Income Mothers. ( 30446329 )
2019
25
The Obesity Epidemic and Bariatric Trends. ( 30447821 )
2019
26
Identification of nafamostat mesilate as an inhibitor of the fat mass and obesity-associated protein (FTO) demethylase activity. ( 30393114 )
2019
27
Muscat Bailey A grape stalk extract ameliorates high-fat diet‑induced obesity by downregulating PPARγ and C/EPBα in mice. ( 30365044 )
2019
28
Anti-obesity effects of Diospyros lotus leaf extract in mice with high-fat diet-induced obesity. ( 30365061 )
2019
29
Examining the pattern of new foods and beverages consumed during obesity treatment to inform strategies for self-monitoring intake. ( 30326244 )
2019
30
Dietary behaviors mediate the association between food insecurity and obesity among socioeconomically disadvantaged youth. ( 30327150 )
2019
31
ERβ activation in obesity improves whole body metabolism via adipose tissue function and enhanced mitochondria biogenesis. ( 30342056 )
2019
32
Antidiabetic activities of chloroform fraction of Anthocleista vogelii Planch root bark in rats with diet- and alloxan-induced obesity-diabetes. ( 30342966 )
2019
33
Therapeutic and lifestyle approaches to obesity in older persons. ( 30346314 )
2019
34
Glucagon-like peptide-2 reduces the obesity-associated inflammation in the brain. ( 30347266 )
2019
35
Obesity and stones. ( 30308572 )
2019
36
ASSOCIATION BETWEEN ACANTHOSIS NIGRICANS AND OTHER CARDIOMETABOLIC RISK FACTORS IN CHILDREN AND ADOLESCENTS WITH OVERWEIGHT AND OBESITY. ( 30365811 )
2018
37
The association between obesity and outcomes in acute pancreatitis: an individual patient data meta-analysis. ( 30399003 )
2018
38
Obesity and healthy aging: social, functional and mental well-being among older Canadians. ( 30540410 )
2018
39
Abdominal Obesity and Mobility Disability in Older Adults: A 4-Year Follow-Up the International Mobility in Aging Study. ( 30498831 )
2018
40
Sympathetic nervous system as a target for aging and obesity-related cardiovascular diseases. ( 30519806 )
2018
41
Aging Modulates the Influence of Arginase on Endothelial Dysfunction in Obesity. ( 30354211 )
2018
42
Role of Leptin/Osteopontin Axis in the Function of Eosinophils in Allergic Rhinitis with Obesity. ( 30473626 )
2018
43
AA amyloidosis associated with morbid obesity (clinical case). ( 30527964 )
2018
44
Zebrafish Mutants Carrying Leptin a (lepa) Gene Deficiency Display Obesity, Anxiety, Less Aggression and Fear, and Circadian Rhythm and Color Preference Dysregulation. ( 30551684 )
2018
45
Relationship between anxiety, depression, sex, obesity, and internet addiction in Chinese adolescents: A short-term longitudinal study. ( 30553156 )
2018
46
Comparing anxiety and depression to obesity and smoking as predictors of major medical illnesses and somatic symptoms. ( 30556708 )
2018
47
Brain tumor necrosis factor-α mediates anxiety-like behavior in a mouse model of severe obesity. ( 30508579 )
2018
48
Enhanced anxiety-like behavior emerges with weight gain in male and female obesity-susceptible rats. ( 30521928 )
2018
49
Meanings of flower therapy for anxiety in people with overweight or obesity. ( 30365799 )
2018
50
The non-enzymatic glycation of LDL proteins results in biochemical alterations - A correlation study of Apo B100-AGE with obesity and rheumatoid arthritis. ( 30312697 )
2018

Variations for Body Mass Index Quantitative Trait Locus 11

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

75 (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 206)
# Gene Variation Type Significance SNP ID Assembly Location
1 PPARGC1B NM_133263.3(PPARGC1B): c.607G> C (p.Ala203Pro) single nucleotide variant association rs7732671 GRCh37 Chromosome 5, 149212243: 149212243
2 PPARGC1B NM_133263.3(PPARGC1B): c.607G> C (p.Ala203Pro) single nucleotide variant association rs7732671 GRCh38 Chromosome 5, 149832680: 149832680
3 GHRL NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln) single nucleotide variant risk factor rs34911341 GRCh37 Chromosome 3, 10331519: 10331519
4 GHRL NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln) single nucleotide variant risk factor rs34911341 GRCh38 Chromosome 3, 10289835: 10289835
5 GHRL NM_001134944.1(GHRL): c.233A> T (p.Gln78Leu) single nucleotide variant risk factor rs4684677 GRCh37 Chromosome 3, 10328453: 10328453
6 GHRL NM_001134944.1(GHRL): c.233A> T (p.Gln78Leu) single nucleotide variant risk factor rs4684677 GRCh38 Chromosome 3, 10286769: 10286769
7 NR0B2 NM_021969.2(NR0B2): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs74315349 GRCh37 Chromosome 1, 27240332: 27240332
8 NR0B2 NM_021969.2(NR0B2): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs74315349 GRCh38 Chromosome 1, 26913841: 26913841
9 NR0B2 NM_021969.2(NR0B2): c.583G> T (p.Ala195Ser) single nucleotide variant Pathogenic rs74315350 GRCh37 Chromosome 1, 27238527: 27238527
10 NR0B2 NM_021969.2(NR0B2): c.583G> T (p.Ala195Ser) single nucleotide variant Pathogenic rs74315350 GRCh38 Chromosome 1, 26912036: 26912036
11 CARTPT NM_004291.3(CARTPT): c.183G> C (p.Leu61Phe) single nucleotide variant risk factor rs121909065 GRCh37 Chromosome 5, 71015730: 71015730
12 CARTPT NM_004291.3(CARTPT): c.183G> C (p.Leu61Phe) single nucleotide variant risk factor rs121909065 GRCh38 Chromosome 5, 71719903: 71719903
13 AGRP NM_001138.1(AGRP): c.199G> A (p.Ala67Thr) single nucleotide variant association rs5030980 GRCh37 Chromosome 16, 67516945: 67516945
14 AGRP NM_001138.1(AGRP): c.199G> A (p.Ala67Thr) single nucleotide variant association rs5030980 GRCh38 Chromosome 16, 67483042: 67483042
15 UCP3 NM_003356.3(UCP3): c.304G> A (p.Val102Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs2229707 GRCh37 Chromosome 11, 73717247: 73717247
16 UCP3 NM_003356.3(UCP3): c.304G> A (p.Val102Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs2229707 GRCh38 Chromosome 11, 74006202: 74006202
17 UCP3 NM_003356.3(UCP3): c.427C> T (p.Arg143Ter) single nucleotide variant Pathogenic rs104894319 GRCh37 Chromosome 11, 73716889: 73716889
18 UCP3 NM_003356.3(UCP3): c.427C> T (p.Arg143Ter) single nucleotide variant Pathogenic rs104894319 GRCh38 Chromosome 11, 74005844: 74005844
19 UCP3 NM_003356.3(UCP3): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic rs17848368 GRCh37 Chromosome 11, 73717343: 73717343
20 UCP3 NM_003356.3(UCP3): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic rs17848368 GRCh38 Chromosome 11, 74006298: 74006298
21 PPARG NM_015869.4(PPARG): c.1484C> T (p.Pro495Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909244 GRCh37 Chromosome 3, 12475610: 12475610
22 PPARG NM_015869.4(PPARG): c.1484C> T (p.Pro495Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909244 GRCh38 Chromosome 3, 12434111: 12434111
23 PPARG NM_015869.4(PPARG): c.1431C> T (p.His477=) single nucleotide variant Likely benign rs3856806 GRCh37 Chromosome 3, 12475557: 12475557
24 PPARG NM_015869.4(PPARG): c.1431C> T (p.His477=) single nucleotide variant Likely benign rs3856806 GRCh38 Chromosome 3, 12434058: 12434058
25 PYY NM_004160.5(PYY): c.185A> C (p.Gln62Pro) single nucleotide variant Uncertain significance rs267606994 GRCh37 Chromosome 17, 42030667: 42030667
26 PYY NM_004160.5(PYY): c.185A> C (p.Gln62Pro) single nucleotide variant Uncertain significance rs267606994 GRCh38 Chromosome 17, 43953299: 43953299
27 MT-CYB m.15497G> A single nucleotide variant Likely benign rs199951903 GRCh37 Chromosome MT, 15497: 15497
28 MT-CYB m.15497G> A single nucleotide variant Likely benign rs199951903 GRCh38 Chromosome MT, 15497: 15497
29 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
30 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121964976 GRCh38 Chromosome 9, 6589230: 6589230
31 SDC3 NM_014654.3(SDC3): c.986C> T (p.Thr329Ile) single nucleotide variant association rs2282440 GRCh37 Chromosome 1, 31347320: 31347320
32 SDC3 NM_014654.3(SDC3): c.986C> T (p.Thr329Ile) single nucleotide variant association rs2282440 GRCh38 Chromosome 1, 30874473: 30874473
33 SDC3 NM_014654.3(SDC3): c.622G> A (p.Val208Ile) single nucleotide variant association rs2491132 GRCh37 Chromosome 1, 31349647: 31349647
34 SDC3 NM_014654.3(SDC3): c.622G> A (p.Val208Ile) single nucleotide variant association rs2491132 GRCh38 Chromosome 1, 30876800: 30876800
35 POMC NM_001035256.2(POMC): c.706C> G (p.Arg236Gly) single nucleotide variant Uncertain significance rs28932472 GRCh37 Chromosome 2, 25384048: 25384048
36 POMC NM_001035256.2(POMC): c.706C> G (p.Arg236Gly) single nucleotide variant Uncertain significance rs28932472 GRCh38 Chromosome 2, 25161179: 25161179
37 ENPP1 ENPP1, IVS20AS, 1-BP DEL, T, -11 deletion risk factor
38 ENPP1 NM_006208.2(ENPP1): c.517A> C (p.Lys173Gln) single nucleotide variant Benign rs1044498 GRCh37 Chromosome 6, 132172368: 132172368
39 ENPP1 NM_006208.2(ENPP1): c.517A> C (p.Lys173Gln) single nucleotide variant Benign rs1044498 GRCh38 Chromosome 6, 131851228: 131851228
40 ENPP1 NM_006208.2(ENPP1): c.*1043A> G single nucleotide variant Benign rs7754561 GRCh37 Chromosome 6, 132212694: 132212694
41 ENPP1 NM_006208.2(ENPP1): c.*1043A> G single nucleotide variant Benign rs7754561 GRCh38 Chromosome 6, 131891554: 131891554
42 MC4R MC4R, 4-BP DEL, NT631 deletion Pathogenic
43 MC4R MC4R, 4-BP INS, NT732 insertion Pathogenic
44 MC4R NM_005912.2(MC4R): c.105C> A (p.Tyr35Ter) single nucleotide variant Pathogenic rs13447324 GRCh37 Chromosome 18, 58039478: 58039478
45 MC4R NM_005912.2(MC4R): c.105C> A (p.Tyr35Ter) single nucleotide variant Pathogenic rs13447324 GRCh38 Chromosome 18, 60372245: 60372245
46 MC4R NM_005912.2(MC4R): c.110A> T (p.Asp37Val) single nucleotide variant Likely benign rs13447325 GRCh37 Chromosome 18, 58039473: 58039473
47 MC4R NM_005912.2(MC4R): c.110A> T (p.Asp37Val) single nucleotide variant Likely benign rs13447325 GRCh38 Chromosome 18, 60372240: 60372240
48 MC4R NM_005912.2(MC4R): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs121913557 GRCh37 Chromosome 18, 58039435: 58039435
49 MC4R NM_005912.2(MC4R): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs121913557 GRCh38 Chromosome 18, 60372202: 60372202
50 MC4R NM_005912.2(MC4R): c.172A> T (p.Ser58Cys) single nucleotide variant Pathogenic rs121913558 GRCh37 Chromosome 18, 58039411: 58039411

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 KCNH2 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 28)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of angiogenesis GO:0016525 9.81 GHRL MIR143 PPARG
2 neuropeptide signaling pathway GO:0007218 9.78 AGRP CARTPT POMC
3 response to insulin GO:0032868 9.75 AGRP MC4R UCP3
4 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.73 ADRB2 ADRB3 GNAS MC4R
5 hormone-mediated signaling pathway GO:0009755 9.72 AGRP GHRL PPARG
6 generation of precursor metabolites and energy GO:0006091 9.71 ADRB3 ENPP1 POMC
7 activation of adenylate cyclase activity GO:0007190 9.65 ADRB2 ADRB3 GNAS
8 positive regulation of osteoclast differentiation GO:0045672 9.64 GNAS PPARGC1B
9 mitochondrial transport GO:0006839 9.63 UCP1 UCP3
10 regulation of smooth muscle contraction GO:0006940 9.62 ADRB2 MIR143
11 positive regulation of bone resorption GO:0045780 9.62 MC4R PPARGC1B
12 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.62 ADRB2 ADRB3 GNAS MC4R
13 cellular response to prostaglandin E stimulus GO:0071380 9.61 GNAS PPARG
14 negative regulation of glucose import GO:0046325 9.6 ENPP1 MIR143
15 negative regulation of multicellular organism growth GO:0040015 9.59 ADRB2 GNAS
16 regulation of feeding behavior GO:0060259 9.58 AGRP MC4R
17 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.58 ADRB2 ADRB3 GNAS
18 adaptive thermogenesis GO:1990845 9.57 UCP1 UCP3
19 positive regulation of feeding behavior GO:2000253 9.56 AGRP GHRL
20 energy reserve metabolic process GO:0006112 9.54 ADRB3 GNAS MC4R
21 desensitization of G protein-coupled receptor signaling pathway by arrestin GO:0002032 9.52 ADRB2 ADRB3
22 mitochondrial transmembrane transport GO:1990542 9.51 UCP1 UCP3
23 norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure GO:0002025 9.49 ADRB2 ADRB3
24 adult feeding behavior GO:0008343 9.43 AGRP CARTPT GHRL
25 diet induced thermogenesis GO:0002024 9.33 ADRB2 MC4R UCP1
26 response to cold GO:0009409 9.26 ADRB2 PPARG UCP1 UCP3
27 positive regulation of cold-induced thermogenesis GO:0120162 9.1 ADRB2 ADRB3 GHRL GNAS PPARGC1B UCP1
28 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 G protein-coupled receptor binding GO:0001664 9.43 GHRL GNAS POMC
2 adrenergic receptor activity GO:0004935 9.37 ADRB2 ADRB3
3 retinoid X receptor binding GO:0046965 9.32 NR0B2 PPARG
4 epinephrine binding GO:0051379 9.16 ADRB2 ADRB3
5 norepinephrine binding GO:0051380 8.96 ADRB2 ADRB3
6 oxidative phosphorylation uncoupler activity GO:0017077 8.62 UCP1 UCP3

Sources for Body Mass Index Quantitative Trait Locus 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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