MCID: BDY004
MIFTS: 68

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 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
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 diabetes mellitus, noninsulin-dependent, and has symptoms including high weight, symptoms 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 bone, heart and kidney, and related phenotypes are obesity and increased adipose tissue

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 related to Body Mass Index Quantitative Trait Locus 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 900)
# Related Disease Score Top Affiliating Genes
1 morbid obesity 35.5 ADRB3 GHRL MC4R PPARG
2 diabetes mellitus, noninsulin-dependent 34.8 ADRB3 ENPP1 GHRL MC4R PPARG PRMT7
3 prader-willi syndrome 34.4 AGRP GHRL MC4R POMC SIM1
4 eating disorder 33.7 GHRL MC4R POMC
5 pseudohypoparathyroidism, type ic 33.1 GNAS MC4R
6 overnutrition 32.8 ADRB3 AGRP GHRL MC4R POMC PPARG
7 anorexia nervosa 32.4 AGRP GHRL MC4R POMC
8 glucose intolerance 32.4 ADRB3 ENPP1 GHRL
9 glucose metabolism disease 30.9 GHRL POMC PPARG
10 acromegaly 30.7 GHRL GNAS POMC
11 obesity, early-onset, with adrenal insufficiency and red hair 12.3
12 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.2
13 morbid obesity and spermatogenic failure 12.2
14 obesity-hypoventilation syndrome 12.2
15 retinal dystrophy and obesity 12.2
16 abdominal obesity-metabolic syndrome 3 12.2
17 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.2
18 abdominal obesity-metabolic syndrome 1 12.2
19 obesity, hyperphagia, and developmental delay 12.1
20 obesity due to congenital leptin deficiency 12.1
21 developmental delay, intellectual disability, obesity, and dysmorphic features 12.1
22 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.1
23 aniridia - ptosis - intellectual disability - familial obesity 12.0
24 abdominal obesity-metabolic syndrome quantitative trait locus 2 12.0
25 hydrocephalus obesity hypogonadism 12.0
26 leptin receptor deficiency 12.0
27 intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 12.0
28 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.0
29 leptin deficiency or dysfunction 11.9
30 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency 11.9
31 obesity due to sim1 deficiency 11.9
32 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 11.9
33 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.8
34 prolactin deficiency with obesity and enlarged testes 11.8
35 short stature-obesity syndrome 11.8
36 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 11.8
37 x-linked intellectual disability - short stature - obesity 11.8
38 cohen syndrome 11.8
39 congenital leptin deficiency 11.7
40 momo syndrome 11.7
41 x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 11.7
42 intellectual disability-seizures-macrocephaly-obesity syndrome 11.7
43 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 11.7
44 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 11.7
45 x-linked intellectual disability-precocious puberty-obesity syndrome 11.7
46 wilson-turner x-linked mental retardation syndrome 11.7
47 proprotein convertase 1/3 deficiency 11.7
48 ayazi syndrome 11.6
49 acquired metabolic disease 11.6 GHRL MC4R POMC PPARG UCP1
50 rohhad 11.6

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

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


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

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

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.43 ADRB2 ADRB3 AGRP CARTPT DDHD2 ENPP1
2 adipose tissue MP:0005375 10.41 ADRB2 ADRB3 AGRP CARTPT ENPP1 GHRL
3 growth/size/body region MP:0005378 10.41 NR0B2 POMC PPARG PPARGC1B PRMT7 SDC3
4 behavior/neurological MP:0005386 10.37 ADRB2 ADRB3 AGRP CARTPT DDHD2 ENPP1
5 endocrine/exocrine gland MP:0005379 10.24 NR0B2 POMC PPARG PRMT7 SIM1 SLC6A14
6 cardiovascular system MP:0005385 10.16 ADRB2 ENPP1 GLDC GNAS MC4R POMC
7 hematopoietic system MP:0005397 10.16 PRMT7 SIM1 SLC6A14 ADRB2 CARTPT GNAS
8 immune system MP:0005387 10.1 ADRB2 CARTPT ENPP1 GNAS MC4R POMC
9 liver/biliary system MP:0005370 10.02 AGRP ENPP1 GNAS MC4R NR0B2 POMC
10 nervous system MP:0003631 10 ADRB2 AGRP DDHD2 ENPP1 GLDC GNAS
11 neoplasm MP:0002006 9.8 GNAS MC4R POMC PPARG PRMT7 SLC6A14
12 no phenotypic analysis MP:0003012 9.7 ADRB2 AGRP GNAS MC4R POMC PPARG
13 normal MP:0002873 9.56 AGRP GHRL GNAS MC4R NR0B2 PPARG
14 skeleton MP:0005390 9.28 GLDC GNAS MC4R PPARG PPARGC1B PRMT7

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
Bone, Heart, Kidney, Liver, Skeletal Muscle, Adipocyte

Publications for Body Mass Index Quantitative Trait Locus 11

Articles related to Body Mass Index Quantitative Trait Locus 11:

(show all 46)
# Title Authors Year
1
Overweight and Abdominal Obesity Association with All-Cause and Cardiovascular Mortality in the Elderly Aged 80 and Over: A Cohort Study. ( 28448093 )
2017
2
Rumination in Patients with Binge-Eating Disorder and Obesity: Associations with Eating-Disorder Psychopathology and Weight-bias Internalization. ( 28078784 )
2017
3
Are healthcare costs from obesity associated with body mass index, comorbidity or depression? Cohort study using electronic health records. ( 27097821 )
2016
4
Is Obesity Associated with Altered Energy Expenditure? ( 27184275 )
2016
5
Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus. ( 26526993 )
2015
6
Abdominal Obesity Associated with Elevated Serum Butyrylcholinesterase Activity, Insulin Resistance and Reduced High Density Lipoprotein-Cholesterol Levels. ( 26089612 )
2015
7
Obstructive sleep apnea rather than diabetes or obesity associated with proteinuria in late mid-aged male workers: a decision tree analysis. ( 25876173 )
2015
8
Is Obesity Associated With School Dropout? Key Developmental and Ethnic Differences. ( 26331748 )
2015
9
The selective orexin receptor 1 antagonist ACT-335827 in a rat model of diet-induced obesity associated with metabolic syndrome. ( 24416020 )
2013
10
Does obesity associate with mortality among Hispanic persons? Results from the National Health Interview Survey. ( 23596157 )
2013
11
Is Prepregnancy Obesity Associated With Risk of Cerebral Palsy and Epilepsy in Children? ( 24334343 )
2013
12
Hypoadiponectinemia in obesity: association with insulin resistance. ( 24426202 )
2013
13
Overweight and obesity associated with increased total serum calcium level: comparison of cross-sectional data in the health screening for teaching faculty. ( 24222605 )
2013
14
Eating disorder pathology in adolescents participating in a lifestyle intervention for obesity: associations with weight change, general psychopathology and health-related quality of life. ( 23941969 )
2013
15
Hypothermia, hypotension, hypersomnia, and obesity associated with hypothalamic lesions in a patient positive for the anti-aquaporin 4 antibody: a case report and literature review. ( 22777080 )
2012
16
Rapamycin ameliorates age-dependent obesity associated with increased mTOR signaling in hypothalamic POMC neurons. ( 22884327 )
2012
17
Is severity of obesity associated with diagnosis or health education practices? ( 22270382 )
2012
18
Molecular basis of the obesity associated with Bardet-Biedl syndrome. ( 21514177 )
2011
19
Measures of obesity associated with asthma diagnosis in ethnic minority children. ( 21773007 )
2011
20
Energy expenditure in obesity associated with craniopharyngioma. ( 20107994 )
2010
21
Sex differences in obesity associated with total fertility rate. ( 20485682 )
2010
22
Neck circumference as a measure of central obesity: associations with metabolic syndrome and obstructive sleep apnea syndrome beyond waist circumference. ( 19010573 )
2009
23
Decrease in leptin production by the adipose tissue in obesity associated with severe metabolic syndrome. ( 20126866 )
2009
24
Abnormal liver function and central obesity associate with work-related fatigue among the Taiwanese workers. ( 19030209 )
2008
25
Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns. ( 18551113 )
2008
26
Is obesity associated with anemia of chronic disease? A population-based study. ( 18719644 )
2008
27
sP-selectin plasma levels in obesity: association with insulin resistance and related metabolic and prothrombotic factors. ( 17400434 )
2008
28
Alterations of glucoregulation in childhood obesity--association with insulin resistance and hyperinsulinemia. ( 18924578 )
2008
29
Increased risk of obesity associated with the variant allele of the PPARGC1A Gly482Ser polymorphism in physically inactive elderly men. ( 16474966 )
2006
30
Alanine aminotransferase levels and fatty liver in childhood obesity: associations with insulin resistance, adiponectin, and visceral fat. ( 16912127 )
2006
31
Reductions in caloric intake and early postnatal growth prevent glucose intolerance and obesity associated with low birthweight. ( 16761107 )
2006
32
Growth hormone overexpression in the central nervous system results in hyperphagia-induced obesity associated with insulin resistance and dyslipidemia. ( 15616010 )
2005
33
Overweight and obesity associated with a missense polymorphism in fatty acid amide hydrolase (FAAH). ( 15809662 )
2005
34
Childhood inattention and dysphoria and adult obesity associated with the dopamine D4 receptor gene in overeating women with seasonal affective disorder. ( 14560322 )
2004
35
[Is obesity associated with a polymorphism Pro12Ala and Pro115Gln in PPARgamma gene?]. ( 15518421 )
2004
36
[Is obesity associated with a polymorphism Pro12Ala and Pro115Gln in the PPARgamma gene?]. ( 15690702 )
2004
37
[Efficiency of the vegetative tea in diet therapy for patients with obesity associated with diabetes mellitus type 2]. ( 12968297 )
2003
38
Is obesity associated with early sexual maturation? A comparison of the association in American boys versus girls. ( 12415028 )
2002
39
Apolipoprotein B-100 kinetics in visceral obesity: associations with plasma apolipoprotein C-III concentration. ( 12145779 )
2002
40
Endocrine and metabolic abnormalities involved in obesity associated with typical antipsychotic drug administration. ( 11778142 )
2001
41
[High circulating levels of adrenomedullin and endothelin-1 in obesity associated with arterial hypertension]. ( 11675821 )
2001
42
Preperitoneal fat thickness in childhood obesity: association with serum insulin concentration. ( 10804731 )
2000
43
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. ( 10903343 )
2000
44
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. ( 10587584 )
2000
45
Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. ( 9753710 )
1998
46
Overexpression of muscle uncoupling protein 2 content in human obesity associates with reduced skeletal muscle lipid utilization. ( 9837864 )
1998

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 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 top 50) (show all 173)
# 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 UCP3 NM_003356.3(UCP3): c.427C> T (p.Arg143Ter) single nucleotide variant Pathogenic rs104894319 GRCh37 Chromosome 11, 73716889: 73716889
12 UCP3 NM_003356.3(UCP3): c.427C> T (p.Arg143Ter) single nucleotide variant Pathogenic rs104894319 GRCh38 Chromosome 11, 74005844: 74005844
13 UCP3 NM_003356.3(UCP3): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic rs17848368 GRCh37 Chromosome 11, 73717343: 73717343
14 UCP3 NM_003356.3(UCP3): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic rs17848368 GRCh38 Chromosome 11, 74006298: 74006298
15 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic rs121964976 GRCh37 Chromosome 9, 6589230: 6589230
16 GLDC NM_000170.2(GLDC): c.1545G> C (p.Arg515Ser) single nucleotide variant Pathogenic rs121964976 GRCh38 Chromosome 9, 6589230: 6589230
17 MC4R MC4R, 2-BP INS, 279GT insertion Pathogenic
18 MC4R MC4R, ILE125LYS undetermined variant Pathogenic
19 ENPP1 ENPP1, IVS20AS, 1-BP DEL, T, -11 deletion risk factor
20 MC4R MC4R, 4-BP DEL, 211CTCT deletion Pathogenic
21 MC4R MC4R, 4-BP DEL, NT631 deletion Pathogenic
22 MC4R MC4R, 4-BP INS, NT732 insertion Pathogenic
23 MC4R NM_005912.2(MC4R): c.105C> A (p.Tyr35Ter) single nucleotide variant Pathogenic rs13447324 GRCh37 Chromosome 18, 58039478: 58039478
24 MC4R NM_005912.2(MC4R): c.105C> A (p.Tyr35Ter) single nucleotide variant Pathogenic rs13447324 GRCh38 Chromosome 18, 60372245: 60372245
25 MC4R NM_005912.2(MC4R): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs121913557 GRCh37 Chromosome 18, 58039435: 58039435
26 MC4R NM_005912.2(MC4R): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs121913557 GRCh38 Chromosome 18, 60372202: 60372202
27 MC4R NM_005912.2(MC4R): c.172A> T (p.Ser58Cys) single nucleotide variant Pathogenic rs121913558 GRCh37 Chromosome 18, 58039411: 58039411
28 MC4R NM_005912.2(MC4R): c.172A> T (p.Ser58Cys) single nucleotide variant Pathogenic rs121913558 GRCh38 Chromosome 18, 60372178: 60372178
29 MC4R NM_005912.2(MC4R): c.305T> G (p.Ile102Ser) single nucleotide variant Pathogenic rs121913559 GRCh37 Chromosome 18, 58039278: 58039278
30 MC4R NM_005912.2(MC4R): c.305T> G (p.Ile102Ser) single nucleotide variant Pathogenic rs121913559 GRCh38 Chromosome 18, 60372045: 60372045
31 MC4R NM_005912.2(MC4R): c.508A> G (p.Ile170Val) single nucleotide variant Pathogenic rs121913560 GRCh37 Chromosome 18, 58039075: 58039075
32 MC4R NM_005912.2(MC4R): c.508A> G (p.Ile170Val) single nucleotide variant Pathogenic rs121913560 GRCh38 Chromosome 18, 60371842: 60371842
33 MC4R NM_005912.2(MC4R): c.821A> G (p.Asn274Ser) single nucleotide variant Pathogenic rs121913561 GRCh37 Chromosome 18, 58038762: 58038762
34 MC4R NM_005912.2(MC4R): c.821A> G (p.Asn274Ser) single nucleotide variant Pathogenic rs121913561 GRCh38 Chromosome 18, 60371529: 60371529
35 MC4R MC4R, 1-BP INS, 112A insertion Pathogenic
36 MC4R NM_005912.2(MC4R): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs121913562 GRCh37 Chromosome 18, 58038771: 58038771
37 MC4R NM_005912.2(MC4R): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs121913562 GRCh38 Chromosome 18, 60371538: 60371538
38 MC4R NM_005912.2(MC4R): c.523G> A (p.Ala175Thr) single nucleotide variant Pathogenic rs121913563 GRCh37 Chromosome 18, 58039060: 58039060
39 MC4R NM_005912.2(MC4R): c.523G> A (p.Ala175Thr) single nucleotide variant Pathogenic rs121913563 GRCh38 Chromosome 18, 60371827: 60371827
40 MC4R NM_005912.2(MC4R): c.947T> G (p.Ile316Ser) single nucleotide variant Pathogenic rs121913564 GRCh37 Chromosome 18, 58038636: 58038636
41 MC4R NM_005912.2(MC4R): c.947T> G (p.Ile316Ser) single nucleotide variant Pathogenic rs121913564 GRCh38 Chromosome 18, 60371403: 60371403
42 MC4R NM_005912.2(MC4R): c.861T> A (p.Tyr287Ter) single nucleotide variant Pathogenic rs121917829 GRCh37 Chromosome 18, 58038722: 58038722
43 MC4R NM_005912.2(MC4R): c.861T> A (p.Tyr287Ter) single nucleotide variant Pathogenic rs121917829 GRCh38 Chromosome 18, 60371489: 60371489
44 MC4R NM_005912.2(MC4R): c.289A> G (p.Asn97Asp) single nucleotide variant Pathogenic rs121913565 GRCh37 Chromosome 18, 58039294: 58039294
45 MC4R NM_005912.2(MC4R): c.289A> G (p.Asn97Asp) single nucleotide variant Pathogenic rs121913565 GRCh38 Chromosome 18, 60372061: 60372061
46 MC4R NM_005912.2(MC4R): c.185A> G (p.Asn62Ser) single nucleotide variant Pathogenic rs121913566 GRCh37 Chromosome 18, 58039398: 58039398
47 MC4R NM_005912.2(MC4R): c.185A> G (p.Asn62Ser) single nucleotide variant Pathogenic rs121913566 GRCh38 Chromosome 18, 60372165: 60372165
48 MC4R MC4R, 15-BP DEL deletion Pathogenic
49 MC4R MC4R, 2-BP DEL, 750GA deletion Pathogenic
50 MC4R NM_005912.2(MC4R): c.656C> T (p.Ala219Val) single nucleotide variant Pathogenic rs121913567 GRCh37 Chromosome 18, 58038927: 58038927

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 28)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.93 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 9.74 ADRB3 ENPP1 POMC
5 hormone-mediated signaling pathway GO:0009755 9.73 AGRP GHRL PPARG
6 activation of adenylate cyclase activity GO:0007190 9.72 ADRB2 ADRB3 GNAS
7 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.71 ADRB2 ADRB3 GNAS MC4R
8 adenylate cyclase-modulating G-protein coupled receptor signaling pathway GO:0007188 9.67 ADRB2 ADRB3 GNAS MC4R
9 positive regulation of osteoclast differentiation GO:0045672 9.64 GNAS PPARGC1B
10 cellular response to prostaglandin E stimulus GO:0071380 9.63 GNAS PPARG
11 brown fat cell differentiation GO:0050873 9.63 ADRB2 ADRB3 UCP1
12 positive regulation of bone resorption GO:0045780 9.62 MC4R PPARGC1B
13 regulation of feeding behavior GO:0060259 9.61 AGRP MC4R
14 adrenergic receptor signaling pathway GO:0071875 9.61 ADRB2 ADRB3
15 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.61 ADRB2 ADRB3 GNAS
16 adaptive thermogenesis GO:1990845 9.59 UCP1 UCP3
17 positive regulation of feeding behavior GO:2000253 9.58 AGRP GHRL
18 positive regulation of fatty acid oxidation GO:0046321 9.58 PPARG PPARGC1B
19 desensitization of G-protein coupled receptor protein signaling pathway by arrestin GO:0002032 9.54 ADRB2 ADRB3
20 heat generation GO:0031649 9.52 ADRB2 ADRB3
21 norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure GO:0002025 9.51 ADRB2 ADRB3
22 energy reserve metabolic process GO:0006112 9.5 ADRB3 GNAS MC4R
23 mitochondrial transmembrane transport GO:1990542 9.49 UCP1 UCP3
24 negative regulation of multicellular organism growth GO:0040015 9.43 ADRB2 ADRB3 GNAS
25 response to cold GO:0009409 9.35 ADRB2 ADRB3 PPARG UCP1 UCP3
26 adult feeding behavior GO:0008343 9.33 AGRP CARTPT GHRL
27 diet induced thermogenesis GO:0002024 8.92 ADRB2 ADRB3 MC4R UCP1
28 G-protein coupled receptor signaling pathway GO:0007186 10.08 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 9.5 GHRL GNAS POMC
2 adrenergic receptor activity GO:0004935 9.4 ADRB2 ADRB3
3 retinoid X receptor binding GO:0046965 9.37 NR0B2 PPARG
4 epinephrine binding GO:0051379 9.26 ADRB2 ADRB3
5 norepinephrine binding GO:0051380 9.16 ADRB2 ADRB3
6 oxidative phosphorylation uncoupler activity GO:0017077 8.96 UCP1 UCP3
7 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
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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