MCID: OBS029
MIFTS: 52

Obesity, Association with malady

Genetic diseases, Metabolic diseases, Endocrine diseases, Rare diseases categories
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Summaries for Obesity, Association with

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MalaCards based summary: Obesity, Association with, also known as obesity due to melanocortin 4 receptor deficiency, is related to obesity and eating disorder, and has symptoms including An important gene associated with Obesity, Association with is SDC3 (syndecan 3), and among its related pathways are Syndecan-3-mediated signaling events and Energy Metabolism. The compounds carbacyclin and beta-alanine have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and adipocyte, and related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

Description from OMIM:46 601665

Aliases & Classifications for Obesity, Association with

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Obesity, Association with, Aliases & Descriptions:

Name: Obesity, Association with 46
Obesity Due to Melanocortin 4 Receptor Deficiency 48
 
Mc4r Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
obesity due to melanocortin 4 receptor deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 601665
ICD10 via Orphanet26 E66.8
ICD1025 E66, E66.0, E66.9

Related Diseases for Obesity, Association with

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Diseases related to Obesity, Association with via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1obesity31.4UCP3, MC4R, PPARG
2eating disorder30.1MC4R, PYY
3glucose intolerance30.1ENPP1, ADRB3, PPARG
4morbid obesity30.1ADRB3, MC4R, PYY
5hypertension29.9PPARG, ADRB3, ADRB2
6insulin resistance29.3PPARG, PYY, MC4R, ADRB3, ADRB2, UCP3
7diabetes mellitus29.0PPARG, PYY, MC4R, ADRB3, UCP3, GAD1
8prediabetes syndrome10.3GAD1, PPARG
9attention deficit hyperactivity disorder10.3
10hyperinsulinism10.2MC4R, PPARG
11hyperandrogenism10.2PPARG, MC4R
12double outlet right ventricle10.1MC4R, PYY
13bulimia nervosa10.1MC4R, PYY
14familial hyperlipidemia10.1PPARG, ADRB3, UCP3
15diabetic nephropathy10.0ENPP1, ADRB3, PPARG
16gestational diabetes10.0ADRB3, GAD1, ENPP1
17lipodystrophy10.0CARTPT, ADRB3, PPARG
18cerebral palsy10.0
19bardet-biedl syndrome10.0
20alstrom syndrome10.0
21seasonal affective disorder10.0
22cerebritis10.0
23craniopharyngioma10.0
24hypersomnia10.0
25anorexia nervosa10.0MC4R, PYY
26parkinson's disease9.9ADRB2, MT-CYB, GAD1
27congenital heart disease9.9ADRB3, ADRB2, UCP3
28metabolic syndrome x9.9UCP3, ADRB2, ADRB3, PPARG
29cholera9.8PYY, ADRB2, GAD1
30coronary artery anomaly9.8PPARG, ADRB3, ADRB2, ENPP1
31multiple sclerosis9.8GAD1, ADRB2, PPARG
32type 1 diabetes mellitus9.8ADRB3, ADRB2, GAD1, ENPP1
33atherosclerosis9.7PPARG, ADRB3, ADRB2, UCP3, ENPP1
34alzheimer's disease9.7PPARG, PYY, ADRB2, GAD1
35hyperglycemia9.6PPARG, PYY, ADRB3, GAD1, ENPP1
36breast cancer9.4ENPP1, GAD1, ADRB3, PYY, PPARG
37type 2 diabetes mellitus9.1PPARG, PYY, MC4R, ADRB3, ADRB2, UCP3

Graphical network of the top 20 diseases related to Obesity, Association with:



Diseases related to obesity, association with

Symptoms for Obesity, Association with

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Symptoms by clinical synopsis from OMIM:

601665

Clinical features from OMIM:

601665

HPO human phenotypes related to Obesity, Association with:

id Description Frequency HPO Source Accession
1 obesity HP:0001513
2 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Obesity, Association with

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Drug clinical trials:

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Genetic Tests for Obesity, Association with

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Anatomical Context for Obesity, Association with

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MalaCards organs/tissues related to Obesity, Association with:

32
Liver, Skeletal muscle, Adipocyte

Animal Models for Obesity, Association with or affiliated genes

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MGI Mouse Phenotypes related to Obesity, Association with:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0ENPP1, MC4R, MRAP2, PPARG
2MP:00053797.9GAD1, PPARG, ADRB3, ADRB2, CARTPT
3MP:00053907.3MC4R, ENPP1, ADRB2, CARTPT, GAD1, PYY
4MP:00053756.2CARTPT, SDC3, ENPP1, UCP3, ADRB2, ADRB3
5MP:00053866.0PYY, MRAP2, SDC3, MC4R, ADRB3, ADRB2
6MP:00053785.8MC4R, SDC3, PYY, MRAP2, UCP3, PPARG
7MP:00053765.8ADRB3, SDC3, PYY, MRAP2, PPARG, ADRB2

Publications for Obesity, Association with

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Articles related to Obesity, Association with:

(show all 27)
idTitleAuthorsYear
1
Hypoadiponectinemia in obesity: association with insulin resistance. (24426202)
2013
2
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
3
The selective orexin receptor 1 antagonist ACT-335827 in a rat model of diet-induced obesity associated with metabolic syndrome. (24416020)
2013
4
Is Prepregnancy Obesity Associated With Risk of Cerebral Palsy and Epilepsy in Children? (24334343)
2013
5
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
6
Molecular basis of the obesity associated with Bardet-Biedl syndrome. (21514177)
2011
7
Energy expenditure in obesity associated with craniopharyngioma. (20107994)
2010
8
Is obesity associated with anemia of chronic disease? A population-based study. (18719644)
2008
9
sP-selectin plasma levels in obesity: association with insulin resistance and related metabolic and prothrombotic factors. (17400434)
2008
10
Abnormal liver function and central obesity associate with work-related fatigue among the Taiwanese workers. (19030209)
2008
11
Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns. (18551113)
2008
12
Increased risk of obesity associated with the variant allele of the PPARGC1A Gly482Ser polymorphism in physically inactive elderly men. (16474966)
2006
13
Reductions in caloric intake and early postnatal growth prevent glucose intolerance and obesity associated with low birthweight. (16761107)
2006
14
Alanine aminotransferase levels and fatty liver in childhood obesity: associations with insulin resistance, adiponectin, and visceral fat. (16912127)
2006
15
Growth hormone overexpression in the central nervous system results in hyperphagia-induced obesity associated with insulin resistance and dyslipidemia. (15616010)
2005
16
Overweight and obesity associated with a missense polymorphism in fatty acid amide hydrolase (FAAH). (15809662)
2005
17
Is obesity associated with a polymorphism Pro12Ala and Pro115Gln in PPARgamma gene?]. (15518421)
2004
18
Is obesity associated with a polymorphism Pro12Ala and Pro115Gln in the PPARgamma gene?]. (15690702)
2004
19
Childhood inattention and dysphoria and adult obesity associated with the dopamine D4 receptor gene in overeating women with seasonal affective disorder. (14560322)
2004
20
Efficiency of the vegetative tea in diet therapy for patients with obesity associated with diabetes mellitus type 2]. (12968297)
2003
21
Apolipoprotein B-100 kinetics in visceral obesity: associations with plasma apolipoprotein C-III concentration. (12145779)
2002
22
High circulating levels of adrenomedullin and endothelin-1 in obesity associated with arterial hypertension]. (11675821)
2001
23
Endocrine and metabolic abnormalities involved in obesity associated with typical antipsychotic drug administration. (11778142)
2001
24
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. (10903343)
2000
25
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. (10587584)
2000
26
Overexpression of muscle uncoupling protein 2 content in human obesity associates with reduced skeletal muscle lipid utilization. (9837864)
1998
27
Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. (9753710)
1998

Variations for Obesity, Association with

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UniProtKB/Swiss-Prot genetic disease variations for Obesity, Association with:

64 (show all 30)
id Symbol AA change Variation ID SNP ID
1MC4Rp.Ser30ArgVAR_010704
2MC4Rp.Asp37ValVAR_010705rs13447325
3MC4Rp.Pro78LeuVAR_010706rs13447326
4MC4Rp.Arg165TrpVAR_010709rs13447332
5MC4Rp.Gly252SerVAR_010711rs13447336
6MC4Rp.Ile317ThrVAR_010712rs13447337
7MC4Rp.Asn274SerVAR_015357
8MC4Rp.Thr11AlaVAR_038632
9MC4Rp.Ser36TyrVAR_038633
10MC4Rp.Val50MetVAR_038634
11MC4Rp.Ser58CysVAR_038635
12MC4Rp.Asn62SerVAR_038636
13MC4Rp.Asn97AspVAR_038638
14MC4Rp.Ile102SerVAR_038639
15MC4Rp.Ile102ThrVAR_038640
16MC4Rp.Leu106ProVAR_038641
17MC4Rp.Ile125LysVAR_038642
18MC4Rp.Ser127LeuVAR_038643rs13447331
19MC4Rp.Arg165GlnVAR_038644rs13447332
20MC4Rp.Ile170ValVAR_038645rs121913560
21MC4Rp.Ala175ThrVAR_038646
22MC4Rp.Gly181AspVAR_038647rs13447333
23MC4Rp.Ala219ValVAR_038648
24MC4Rp.Val253IleVAR_038650rs187152753
25MC4Rp.Cys271ArgVAR_038651
26MC4Rp.Cys271TyrVAR_038652
27MC4Rp.Ile316SerVAR_038653
28MC4Rp.Leu325PheVAR_038654
29PPARGp.Pro113GlnVAR_010724rs1800571
30UCP3p.Val102IleVAR_004408rs2229707

Clinvar genetic disease variations for Obesity, Association with:

6 (show all 39)
id Gene Name Type Significance SNP ID Assembly Location
1ENPP1ENPP1, IVS20AS, 1-BP DEL, T, -11deletionrisk factor
2ENPP1NM_006208.2(ENPP1): c.517A> C (p.Lys173Gln)single nucleotide variantrisk factorrs1044498GRCh37Chr 6, 132172368: 132172368
3ENPP1NM_006208.2(ENPP1): c.*1043A> Gsingle nucleotide variantrisk factorrs7754561GRCh37Chr 6, 132212694: 132212694
4MC4RMC4R, 4-BP DEL, NT631deletionPathogenic
5MC4RMC4R, 4-BP INS, NT732insertionPathogenic
6MC4RNM_005912.2(MC4R): c.105C> A (p.Tyr35Ter)single nucleotide variantPathogenicrs13447324GRCh37Chr 18, 58039478: 58039478
7MC4RNM_005912.2(MC4R): c.110A> T (p.Asp37Val)single nucleotide variantPathogenicrs13447325GRCh37Chr 18, 58039473: 58039473
8MC4RNM_005912.2(MC4R): c.148G> A (p.Val50Met)single nucleotide variantPathogenicrs121913557GRCh37Chr 18, 58039435: 58039435
9MC4RNM_005912.2(MC4R): c.172A> T (p.Ser58Cys)single nucleotide variantPathogenicrs121913558GRCh37Chr 18, 58039411: 58039411
10MC4RNM_005912.2(MC4R): c.305T> G (p.Ile102Ser)single nucleotide variantPathogenicrs121913559GRCh37Chr 18, 58039278: 58039278
11MC4RNM_005912.2(MC4R): c.508A> G (p.Ile170Val)single nucleotide variantPathogenicrs121913560GRCh37Chr 18, 58039075: 58039075
12MC4RNM_005912.2(MC4R): c.821A> G (p.Asn274Ser)single nucleotide variantPathogenicrs121913561GRCh37Chr 18, 58038762: 58038762
13MC4RMC4R, 1-BP INS, 112AinsertionPathogenic
14MC4RMC4R, 4-BP DEL, 211CTCTdeletionPathogenic
15MC4RMC4R, 2-BP INS, 279GTinsertionPathogenic
16MC4RMC4R, ILE125LYSundetermined variantPathogenic
17MC4RNM_005912.2(MC4R): c.812G> A (p.Cys271Tyr)single nucleotide variantPathogenicrs121913562GRCh37Chr 18, 58038771: 58038771
18MC4RNM_005912.2(MC4R): c.523G> A (p.Ala175Thr)single nucleotide variantPathogenicrs121913563GRCh37Chr 18, 58039060: 58039060
19MC4RNM_005912.2(MC4R): c.947T> G (p.Ile316Ser)single nucleotide variantPathogenicrs121913564GRCh37Chr 18, 58038636: 58038636
20MC4RNM_005912.2(MC4R): c.861T> A (p.Tyr287Ter)single nucleotide variantPathogenicrs121917829GRCh37Chr 18, 58038722: 58038722
21MC4RNM_005912.2(MC4R): c.289A> G (p.Asn97Asp)single nucleotide variantPathogenicrs121913565GRCh37Chr 18, 58039294: 58039294
22MC4RNM_005912.2(MC4R): c.185A> G (p.Asn62Ser)single nucleotide variantPathogenicrs121913566GRCh37Chr 18, 58039398: 58039398
23MC4RMC4R, 15-BP DELdeletionPathogenic
24MC4RNM_005912.2(MC4R): c.380C> T (p.Ser127Leu)single nucleotide variantPathogenicrs13447331GRCh37Chr 18, 58039203: 58039203
25MC4RMC4R, 2-BP DEL, 750GAdeletionPathogenic
26MC4RNM_005912.2(MC4R): c.656C> T (p.Ala219Val)single nucleotide variantPathogenicrs121913567GRCh37Chr 18, 58038927: 58038927
27ADRB3NM_000025.2(ADRB3): c.190T> C (p.Trp64Arg)single nucleotide variantrisk factorrs4994GRCh37Chr 8, 37823798: 37823798
28ADRB2NM_000024.5(ADRB2): c.79C> G (p.Gln27Glu)single nucleotide variantrisk factorrs1042714GRCh37Chr 5, 148206473: 148206473
29LEPRNM_002303.5(LEPR): c.2880C> G (p.Asn960Lys)single nucleotide variantLikely pathogenicrs193922650GRCh37Chr 1, 66102080: 66102080
30MC4RNM_005912.2(MC4R): c.538T> C (p.Ser180Pro)single nucleotide variantLikely pathogenicrs193922685GRCh37Chr 18, 58039045: 58039045
31MC4RNM_005912.2(MC4R): c.806T> A (p.Ile269Asn)single nucleotide variantLikely pathogenicrs79783591GRCh37Chr 18, 58038777: 58038777
32MC4RNM_005912.2(MC4R): c.835_836dupTG (p.Phe280Alafs)duplicationPathogenicrs193922687GRCh37Chr 18, 58038746: 58038747
33MC4RNM_005912.2(MC4R): c.896C> A (p.Pro299His)single nucleotide variantPathogenicrs52804924GRCh37Chr 18, 58038687: 58038687
34NM_001134944.1(GHRL): c.116G> A (p.Arg39Gln)single nucleotide variantrisk factorrs34911341GRCh37Chr 3, 10331519: 10331519
35NM_001134944.1(GHRL): c.233A> T (p.Gln78Leu)single nucleotide variantrisk factorrs4684677GRCh37Chr 3, 10328453: 10328453
36MRAP2NM_138409.2(MRAP2): c.70G> T (p.Glu24Ter)single nucleotide variantrisk factorGRCh37Chr 6, 84765107: 84765107
37CARTPTNM_004291.3(CARTPT): c.183G> C (p.Leu61Phe)single nucleotide variantrisk factorrs121909065GRCh37Chr 5, 71015730: 71015730
38PYYNM_004160.4(PYY): c.185A> C (p.Gln62Pro)single nucleotide variantrisk factorrs267606994GRCh37Chr 17, 42030667: 42030667
39MT-CYBm.15497G> Asingle nucleotide variantrisk factorrs199951903GRCh37Chr MT, 15497: 15497

Expression for genes affiliated with Obesity, Association with

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Expression patterns in normal tissues for genes affiliated with Obesity, Association with

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Pathways for genes affiliated with Obesity, Association with

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Pathways related to Obesity, Association with according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MC4R, SDC3
29.9PPARG, UCP3
3
Show member pathways
9.4UCP3, MT-CYB, PPARG
4
Show member pathways
9.3ADRB2, ADRB3
59.1ADRB2, PYY
69.0ADRB2, ADRB3, MC4R
7
Show member pathways
9.0ADRB2, ADRB3, PPARG
8
Show member pathways
8.4PPARG, SDC3, MT-CYB, UCP3, GAD1, ENPP1
9
Show member pathways
8.2PYY, MC4R, ADRB3, ADRB2
10
Show member pathways
8.0ADRB2, ADRB3, MC4R, SDC3, PYY

Compounds for genes affiliated with Obesity, Association with

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Compounds related to Obesity, Association with according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1carbacyclin28 4411.1UCP3, PPARG
2beta-alanine44 61 28 24 1113.9GAD1, MC4R
3palmitate449.9PPARG, MC4R, UCP3
4ici 118551289.8ADRB3, ADRB2
5carazolol44 2810.8ADRB3, ADRB2
6isoprenaline289.7ADRB3, ADRB2
7sr59230a289.7ADRB3, ADRB2
8cgp 1217728 4410.7ADRB3, ADRB2
9[125i]icyp289.7ADRB3, ADRB2
10bupranolol28 44 1111.7ADRB3, ADRB2
11nadolol44 28 1111.7ADRB3, ADRB2
12procaterol44 28 1111.7ADRB3, ADRB2
13octopamine44 2810.7ADRB2, ADRB3
14clenbuterol44 1110.6ADRB2, ADRB3
15dobutamine44 28 50 1112.6ADRB3, ADRB2
16fenoterol44 28 1111.6ADRB2, ADRB3
17intralipid449.5UCP3, PYY
18salbutamol44 50 28 24 1113.4UCP3, ADRB2, ADRB3
19orlistat44 61 1111.4PPARG, PYY
20amphetamine44 50 1111.4PYY, MC4R, CARTPT
21carvedilol44 50 28 1112.3ADRB2, ADRB3
22haloperidol44 50 28 2 1113.3GAD1, MC4R, PYY
23glutamine449.2ENPP1, GAD1, ADRB2, PPARG
24clozapine44 28 50 1112.1MC4R, ADRB3, ADRB2, GAD1
252-deoxyglucose44 1110.1PPARG, PYY, UCP3, GAD1
26amine449.1PYY, MC4R, ADRB3
27c-peptide449.0GAD1, ADRB3, PYY
28cocaine44 119.9CARTPT, ADRB2, MC4R, PYY
29propranolol44 28 50 24 1112.9ADRB2, ADRB3, PYY
30potassium44 24 1110.9ADRB3, ADRB2, MT-CYB, GAD1
31gnrh448.8GAD1, ADRB2, PYY
32isoproterenol44 119.7PYY, ADRB3, ADRB2
33gtp44 289.7PYY, ADRB2, MT-CYB, UCP3
34gaba448.7GAD1, ADRB2, PYY
35norepinephrine44 24 1110.6PYY, ADRB3, ADRB2, UCP3
36oxygen44 249.5GAD1, UCP3, MT-CYB, ADRB2, ADRB3
37dopamine44 28 24 1111.5PYY, MC4R, ADRB2, CARTPT, GAD1
38hydrogen44 249.4PYY, ADRB2, MT-CYB, UCP3, GAD1
39dexamethasone44 50 28 1111.4PPARG, ADRB3, ADRB2, ENPP1
40alanine448.4PPARG, MC4R, ADRB3, ADRB2, MT-CYB, GAD1
41nitric oxide44 24 1110.3MC4R, ADRB3, ADRB2, MT-CYB, UCP3, GAD1
42fatty acid448.2PPARG, PYY, MC4R, ADRB3, UCP3, ENPP1
43arginine448.2PYY, MC4R, ADRB3, ADRB2, GAD1
44cholesterol44 28 24 1111.2PPARG, PYY, MC4R, ADRB3, UCP3, GAD1
45estrogen448.2PPARG, PYY, ADRB3, ADRB2, UCP3
46cyclic amp44 249.2PYY, ADRB3, ADRB2, CARTPT, ENPP1
47calcium44 50 24 1111.0PYY, MC4R, MT-CYB, UCP3, GAD1, ENPP1
48atp44 289.0PYY, ADRB3, MT-CYB, UCP3, GAD1, ENPP1
49lipid447.3PPARG, PYY, MC4R, ADRB3, ADRB2, MT-CYB
50glucose446.9ENPP1, PPARG, PYY, MC4R, ADRB3, ADRB2

GO Terms for genes affiliated with Obesity, Association with

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Cellular components related to Obesity, Association with according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.5ENPP1, GAD1, ADRB2, ADRB3, MC4R, SDC3

Biological processes related to Obesity, Association with according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1response to insulinGO:0328689.9UCP3, MC4R
2positive regulation of cAMP biosynthetic processGO:0308199.8MC4R, MRAP2
3cellular response to insulin stimulusGO:0328699.7PPARG, ENPP1
4heat generationGO:0316499.6ADRB3, ADRB2
5desensitization of G-protein coupled receptor protein signaling pathway by arrestinGO:0020329.6ADRB3, ADRB2
6vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressureGO:0020259.6ADRB3, ADRB2
7adrenergic receptor signaling pathwayGO:0718759.6ADRB2, ADRB3
8negative regulation of multicellular organism growthGO:0400159.6ADRB2, ADRB3
9activation of adenylate cyclase activityGO:0071909.5ADRB3, ADRB2
10generation of precursor metabolites and energyGO:0060919.5ENPP1, ADRB3
11adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.5ADRB2, ADRB3
12diet induced thermogenesisGO:0020249.4MC4R, ADRB3, ADRB2
13adenylate cyclase-modulating G-protein coupled receptor signaling pathwayGO:0071889.4ADRB2, ADRB3, MC4R
14brown fat cell differentiationGO:0508739.4ADRB2, ADRB3, PPARG
15receptor-mediated endocytosisGO:0068989.3ADRB2, ADRB3
16energy reserve metabolic processGO:0061129.3MRAP2, MC4R, ADRB3
17eating behaviorGO:0427559.3ADRB3, PYY
18feeding behaviorGO:0076319.2MRAP2, PYY, MC4R
19G-protein coupled receptor signaling pathwayGO:0071869.1PPARG, PYY, CARTPT
20response to coldGO:0094099.1UCP3, ADRB2, ADRB3, PPARG
21positive regulation of MAPK cascadeGO:0434109.0ADRB2, ADRB3

Molecular functions related to Obesity, Association with according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1norepinephrine bindingGO:0513809.0ADRB3, ADRB2
2protein bindingGO:0055156.5PPARG, PYY, MC4R, ADRB3, ADRB2, CARTPT

Products for genes affiliated with Obesity, Association with

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Sources for Obesity, Association with

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet