MCID: OBS067
MIFTS: 36

Obesity Due to Melanocortin 4 Receptor Deficiency

Categories: Endocrine diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Obesity Due to Melanocortin 4 Receptor Deficiency

MalaCards integrated aliases for Obesity Due to Melanocortin 4 Receptor Deficiency:

Name: Obesity Due to Melanocortin 4 Receptor Deficiency 58
Mc4r Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
obesity due to melanocortin 4 receptor deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (France); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E66.8
Orphanet 58 ORPHA71529

Summaries for Obesity Due to Melanocortin 4 Receptor Deficiency

MalaCards based summary : Obesity Due to Melanocortin 4 Receptor Deficiency, also known as mc4r deficiency, is related to body mass index quantitative trait locus 11 and body mass index quantitative trait locus 20. An important gene associated with Obesity Due to Melanocortin 4 Receptor Deficiency is MC4R (Melanocortin 4 Receptor), and among its related pathways/superpathways are G alpha (s) signalling events and Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics. Related phenotypes are increased adipose tissue and polyphagia

Related Diseases for Obesity Due to Melanocortin 4 Receptor Deficiency

Diseases related to Obesity Due to Melanocortin 4 Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 11 25.4 SCAPER PRMT7 POLG NIPA1 MC4R GNAS
2 body mass index quantitative trait locus 20 11.1
3 pseudohypoparathyroidism, type ic 10.3 MC4R GNAS
4 breast juvenile papillomatosis 10.2 GNAS BRCA2
5 complex hereditary spastic paraplegia 10.2 NIPA1 DDHD2
6 pituitary carcinoma 10.2 GNAS BRCA2
7 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.1 POLG DDHD2
8 spastic paraplegia 15, autosomal recessive 10.1 NIPA1 DDHD2
9 body mass index quantitative trait locus 9 10.0
10 body mass index quantitative trait locus 8 10.0
11 body mass index quantitative trait locus 4 10.0
12 body mass index quantitative trait locus 10 10.0
13 body mass index quantitative trait locus 7 10.0
14 body mass index quantitative trait locus 12 10.0
15 body mass index quantitative trait locus 14 10.0
16 body mass index quantitative trait locus 18 10.0
17 body mass index quantitative trait locus 19 10.0
18 hyperinsulinism 10.0
19 epilepsy, idiopathic generalized 10.0 POLG GLDC DDHD2
20 osseous heteroplasia, progressive 10.0 GNAS ENPP1 BRCA2
21 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.0 POLG DNM1L
22 pseudohypoparathyroidism, type ia 10.0 MC4R GNAS
23 attention deficit-hyperactivity disorder 9.9
24 bulimia nervosa 9.9
25 fatty liver disease, nonalcoholic 1 9.9
26 leptin deficiency or dysfunction 9.9
27 non-alcoholic fatty liver disease 9.9
28 non-alcoholic steatohepatitis 9.9
29 tic disorder 9.9
30 eating disorder 9.9
31 hypoglycemia 9.9
32 genetic obesity 9.9
33 phosphorus metabolism disease 9.9 GNAS ENPP1
34 gestational diabetes 9.8 ENPP1 CDKAL1 ADRB3
35 disease of mental health 8.9 SCAPER POLG NIPA1 MC4R GNAS DNM1L

Graphical network of the top 20 diseases related to Obesity Due to Melanocortin 4 Receptor Deficiency:



Diseases related to Obesity Due to Melanocortin 4 Receptor Deficiency

Symptoms & Phenotypes for Obesity Due to Melanocortin 4 Receptor Deficiency

Human phenotypes related to Obesity Due to Melanocortin 4 Receptor Deficiency:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased adipose tissue 58 31 obligate (100%) Obligate (100%) HP:0009126
2 polyphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002591
3 childhood-onset truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0008915
4 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
5 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
6 hypertriglyceridemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002155
7 hyperinsulinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000842
8 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
9 obesity 58 Obligate (100%)

MGI Mouse Phenotypes related to Obesity Due to Melanocortin 4 Receptor Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ADRB3 BBIP1 BRCA2 CARTPT CDKAL1 DDHD2
2 homeostasis/metabolism MP:0005376 10.06 ADRB3 BRCA2 CARTPT CDIPT CDKAL1 DDHD2
3 growth/size/body region MP:0005378 10.03 ADRB3 BBIP1 BRCA2 CARTPT CDKAL1 DNM1L
4 adipose tissue MP:0005375 9.97 ADRB3 CARTPT CDKAL1 ENPP1 GNAS MC4R
5 nervous system MP:0003631 9.7 BBIP1 BRCA2 DDHD2 DIXDC1 DNM1L ENPP1
6 skeleton MP:0005390 9.28 BRCA2 CARTPT DNM1L ENPP1 GLDC GNAS

Drugs & Therapeutics for Obesity Due to Melanocortin 4 Receptor Deficiency

Search Clinical Trials , NIH Clinical Center for Obesity Due to Melanocortin 4 Receptor Deficiency

Genetic Tests for Obesity Due to Melanocortin 4 Receptor Deficiency

Anatomical Context for Obesity Due to Melanocortin 4 Receptor Deficiency

Publications for Obesity Due to Melanocortin 4 Receptor Deficiency

Articles related to Obesity Due to Melanocortin 4 Receptor Deficiency:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. 6 61
18559663 2008
2
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 6 61
12646665 2003
3
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. 6
18801902 2009
4
Medical sequencing at the extremes of human body mass. 6
17357083 2007
5
ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children. 6
16968801 2006
6
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine. 6
16609882 2006
7
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. 6
16507637 2006
8
No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population. 6
16607460 2006
9
Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish. 6
16204371 2005
10
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. 6
16025115 2005
11
Increased hepatic levels of the insulin receptor inhibitor, PC-1/NPP1, induce insulin resistance and glucose intolerance. 6
15677494 2005
12
CART peptide levels are altered by a mutation associated with obesity at codon 34. 6
15326462 2004
13
Effects of the Trp64Arg polymorphism in the beta3-adrenergic receptor gene on insulin sensitivity in small for gestational age neonates. 6
15472194 2004
14
The association of the K121Q polymorphism of the plasma cell glycoprotein-1 gene with type 2 diabetes and hypertension depends on size at birth. 6
15126519 2004
15
A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2. 6
14988267 2004
16
The PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic and is associated with type 2 diabetes. 6
15001634 2004
17
Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance. 6
14671192 2003
18
Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population. 6
12905068 2003
19
Ghrelin gene: identification of missense variants and a frameshift mutation in extremely obese children and adolescents and healthy normal weight students. 6
12050239 2002
20
Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine. 6
11771660 2002
21
The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance. 6
11739459 2001
22
Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family. 6
11522684 2001
23
Mutations in the preproghrelin/ghrelin gene associated with obesity in humans. 6
11502844 2001
24
Insulin response to glucose is lower in individuals homozygous for the Arg 64 variant of the beta-3-adrenergic receptor. 6
11095426 2000
25
Studies of the synergistic effect of the Trp/Arg64 polymorphism of the beta3-adrenergic receptor gene and the -3826 A-->G variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a population-based sample of 379 young Danish subjects. 6
10999801 2000
26
Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. 6
10577903 1999
27
A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance. 6
10480624 1999
28
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). 6
10453738 1999
29
The association between Trp64Arg polymorphism of the beta3-adrenergic receptor and autonomic nervous system activity. 6
10323390 1999
30
Trp64Arg polymorphism of the beta3-adrenergic receptor gene in pregnancy: association with mild gestational diabetes mellitus. 6
10323402 1999
31
Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. 6
10199800 1999
32
Polymorphism of the human beta3-adrenoceptor gene forms a well-conserved haplotype that is associated with moderate obesity and altered receptor function. 6
9892244 1999
33
Trp64Arg variant of the beta3-adrenoceptor and insulin resistance in obese postmenopausal women. 6
9814483 1998
34
The Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is not associated with obesity or type 2 diabetes mellitus in a large population-based Caucasian cohort. 6
9709965 1998
35
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. 6
9662402 1998
36
A paired sibling analysis of the beta-3 adrenergic receptor and obesity in Mexican Americans. 6
9449691 1998
37
Lack of association between the Trp64 Arg mutation in the beta 3-adrenergic receptor gene and obesity in Japanese men: a longitudinal analysis. 6
9100608 1997
38
A mutation of the beta 3-adrenergic receptor is associated with visceral obesity but decreased serum triglyceride. 6
9112025 1997
39
A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. 6
9054940 1997
40
Role of the beta 3-adrenergic receptor locus in obesity and noninsulin-dependent diabetes among members of Caucasian families with a diabetic sibling pair. 6
8954053 1996
41
The Trp64Arg mutation of the beta3 adrenergic receptor gene has no effect on obesity phenotypes in the Québec Family Study and Swedish Obese Subjects cohorts. 6
8903328 1996
42
Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta 3-adrenergic-receptor gene. 6
7609750 1995
43
Genetic variation in the beta 3-adrenergic receptor and an increased capacity to gain weight in patients with morbid obesity. 6
7609752 1995
44
Sex/Gender Modifies the Association Between the MC4R p.Ile269Asn Mutation and Type 2 Diabetes in the Mexican Population. 61
33045043 2021
45
Hypothalamic MC4R regulates glucose homeostasis through adrenaline-mediated control of glucose reabsorption via renal GLUT2 in mice. 61
33052459 2021
46
The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population. 61
32692746 2020
47
Methylphenidate in children with monogenic obesity due to LEPR or MC4R deficiency improves feeling of satiety and reduces BMI-SDS-A case series. 61
31670905 2020
48
MC4R deficiency in pigs results in hyperphagia and ultimately hepatic steatosis without high-fat diet. 61
31629472 2019
49
Celastrol Reduces Obesity in MC4R Deficiency and Stimulates Sympathetic Nerve Activity Affecting Metabolic and Cardiovascular Functions. 61
30894367 2019
50
Role of melanocortin 4 receptor in hypertension induced by chronic intermittent hypoxia. 61
30466186 2019

Variations for Obesity Due to Melanocortin 4 Receptor Deficiency

ClinVar genetic disease variations for Obesity Due to Melanocortin 4 Receptor Deficiency:

6 (show top 50) (show all 166)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDIPT GRCh37/hg19 16p11.2(chr16:29592783-30190568) copy number loss Pathogenic 523254 16:29592783-30190568
2 POLG NM_001126131.2(POLG):c.1268_1269CT[1] (p.Leu424fs) Microsatellite Pathogenic 206608 rs796052908 15:89870560-89870561 15:89327329-89327330
3 MC4R NM_005912.3(MC4R):c.896C>A (p.Pro299His) SNV Pathogenic 36488 rs52804924 18:58038687-58038687 18:60371454-60371454
4 DDHD2 NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) SNV Pathogenic 39679 rs375168720 8:38111160-38111160 8:38253642-38253642
5 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
6 MC4R NM_005912.3(MC4R):c.838T>C (p.Phe280Leu) SNV Pathogenic 492863 rs756232889 18:58038745-58038745 18:60371512-60371512
7 MC4R NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) SNV Pathogenic 435831 rs370479598 18:58039402-58039402 18:60372169-60372169
8 NIPA1 GRCh37/hg19 15q11.2(chr15:22765628-23300287) copy number loss Pathogenic 523249 15:22765628-23300287
9 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785
10 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>T SNV Pathogenic 626905 rs1590746439 10:112661299-112661299 10:110901541-110901541
11 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) Deletion Pathogenic 548448 rs1567499068 15:76866531-76866531 15:76574190-76574190
12 MC4R NM_005912.3(MC4R):c.496G>A (p.Val166Ile) SNV Pathogenic 562224 rs942758928 18:58039087-58039087 18:60371854-60371854
13 MC4R NM_005912.3(MC4R):c.407C>T (p.Ser136Phe) SNV Pathogenic 976165 18:58039176-58039176 18:60371943-60371943
14 MC4R NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) SNV Pathogenic 14318 rs13447324 18:58039478-58039478 18:60372245-60372245
15 MC4R NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) SNV Pathogenic 14329 rs121913562 18:58038771-58038771 18:60371538-60371538
16 MC4R NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) SNV Pathogenic 917498 rs13447324 18:58039478-58039478 18:60372245-60372245
17 MC4R NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) Microsatellite Pathogenic 36487 rs193922687 18:58038746-58038747 18:60371513-60371514
18 MC4R NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) SNV Pathogenic 327713 rs747681609 18:58039089-58039089 18:60371856-60371856
19 GLDC NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) SNV Pathogenic 11985 rs121964976 9:6589230-6589230 9:6589230-6589230
20 MC4R NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) SNV Pathogenic 562356 rs369841551 18:58039117-58039117 18:60371884-60371884
21 BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs) Deletion Pathogenic 37935 rs80359473 13:32913425-32913428 13:32339288-32339291
22 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105
23 MC4R NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) SNV Pathogenic/Likely pathogenic 435829 rs766665118 18:58039134-58039134 18:60371901-60371901
24 MC4R NM_005912.3(MC4R):c.750_751del (p.Ile251fs) Deletion Likely pathogenic 435828 rs13447339 18:58038832-58038833 18:60371599-60371600
25 MYH9 NM_002473.5(MYH9):c.4271A>G (p.Asp1424Gly) SNV Likely pathogenic 523453 rs867593888 22:36688105-36688105 22:36292059-36292059
26 RSRC2 NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) SNV Likely pathogenic 242899 rs752134549 12:123001951-123001951 12:122517404-122517404
27 ENPP1 NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) SNV risk factor 13589 rs1044498 6:132172368-132172368 6:131851228-131851228
28 ENPP1 NM_006208.3(ENPP1):c.2101-11del Deletion risk factor 355347 rs397832689 6:132203471-132203471 6:131882331-131882331
29 PPARG NM_138711.6(PPARG):c.46_58del (p.Ser17fs) Deletion Likely pathogenic 930372 3:12421251-12421263 3:12379752-12379764
30 BDNF-AS NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr) SNV Likely pathogenic 981928 11:27679555-27679555 11:27658008-27658008
31 ENPP1 NM_006208.3(ENPP1):c.*1043A>G SNV risk factor 13590 rs7754561 6:132212694-132212694 6:131891554-131891554
32 MT-CYB m.15497G>A SNV risk factor 9687 rs199951903 MT:15497-15497 MT:15497-15497
33 MC4R NM_005912.3(MC4R):c.538T>C (p.Ser180Pro) SNV Likely pathogenic 36483 rs193922685 18:58039045-58039045 18:60371812-60371812
34 EMC1 NM_015047.3(EMC1):c.313C>T (p.Arg105Ter) SNV Likely pathogenic 631526 rs148538980 1:19570175-19570175 1:19243681-19243681
35 FBXO11 NM_025133.4(FBXO11):c.188C>G (p.Ser63Ter) SNV Likely pathogenic 631527 rs1572820988 2:48066560-48066560 2:47839421-47839421
36 POGZ NM_015100.4(POGZ):c.3638G>A (p.Trp1213Ter) SNV Likely pathogenic 631528 rs1571321748 1:151377873-151377873 1:151405397-151405397
37 DIXDC1 NM_001037954.4(DIXDC1):c.793C>T (p.Arg265Ter) SNV Likely pathogenic 631529 rs1419374563 11:111853087-111853087 11:111982362-111982362
38 DNM1L NM_012062.5(DNM1L):c.28A>T (p.Lys10Ter) SNV Likely pathogenic 631530 rs745921568 12:32832325-32832325 12:32679391-32679391
39 NRXN1 NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) SNV Likely pathogenic 194930 rs199546979 2:50463974-50463974 2:50236836-50236836
40 GRIA4 NM_000829.4(GRIA4):c.2209C>T (p.Arg737Ter) SNV Likely pathogenic 631525 rs1591461970 11:105804610-105804610 11:105933884-105933884
41 CARTPT NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe) SNV risk factor 6993 rs121909065 5:71015730-71015730 5:71719903-71719903
42 GHRL NM_016362.5(GHRL):c.269A>T (p.Gln90Leu) SNV risk factor 5063 rs4684677 3:10328453-10328453 3:10286769-10286769
43 LEPR NM_002303.5(LEPR):c.2880C>G (p.Asn960Lys) SNV Likely pathogenic 36465 rs193922650 1:66102080-66102080 1:65636397-65636397
44 GHRL NM_016362.5(GHRL):c.152G>A (p.Arg51Gln) SNV risk factor 5061 rs34911341 3:10331519-10331519 3:10289835-10289835
45 CDKAL1 NM_017774.3(CDKAL1):c.371+11642G>C SNV risk factor 812171 rs7754840 6:20661250-20661250 6:20661019-20661019
46 ADRB3 NM_000025.3(ADRB3):c.190T>C (p.Trp64Arg) SNV risk factor 17741 rs4994 8:37823798-37823798 8:37966280-37966280
47 SCN1A NM_001165963.4(SCN1A):c.971_973ATT[1] (p.Tyr325del) Microsatellite Likely pathogenic 503736 rs1553548194 2:166905448-166905450 2:166048938-166048940
48 KCNH2 NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) SNV Likely pathogenic 14420 rs121912504 7:150648799-150648799 7:150951711-150951711
49 MC4R NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) SNV Likely pathogenic 549551 rs772393451 18:58038834-58038834 18:60371601-60371601
50 MC4R NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) SNV Likely pathogenic 14331 rs121913564 18:58038636-58038636 18:60371403-60371403

Expression for Obesity Due to Melanocortin 4 Receptor Deficiency

Search GEO for disease gene expression data for Obesity Due to Melanocortin 4 Receptor Deficiency.

Pathways for Obesity Due to Melanocortin 4 Receptor Deficiency

Pathways related to Obesity Due to Melanocortin 4 Receptor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.3 MC4R GNAS ADRB3
2 9.92 MC4R CARTPT

GO Terms for Obesity Due to Melanocortin 4 Receptor Deficiency

Biological processes related to Obesity Due to Melanocortin 4 Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.5 MC4R GNAS ADRB3
2 response to gamma radiation GO:0010332 9.37 POLG BRCA2
3 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.26 GNAS ADRB3
4 positive regulation of mitochondrial fission GO:0090141 9.16 DNM1L DDHD2
5 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.13 MC4R GNAS ADRB3
6 energy reserve metabolic process GO:0006112 8.8 MC4R GNAS ADRB3

Molecular functions related to Obesity Due to Melanocortin 4 Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.62 DIXDC1 BRCA2

Sources for Obesity Due to Melanocortin 4 Receptor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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