rs121918111
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Proopiomelanocortin Deficiency
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
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rs121918112
|
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Proopiomelanocortin Deficiency
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
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rs1553400259
|
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Proopiomelanocortin Deficiency
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
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rs28932472
|
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OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
|
C |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
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rs753856820
|
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Proopiomelanocortin Deficiency
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs796065034
|
|
Proopiomelanocortin Deficiency
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs796065035
|
|
Proopiomelanocortin Deficiency
|
GCC |
0.700 |
CausalMutation
|
CLINVAR |
|
|
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rs28932472
|
|
Obesity
|
|
0.030 |
GeneticVariation
|
BEFREE |
R236G is a mutation which disrupts such a normal processing event resulting in an overall weight gain and early onset obesity.
|
26530524 |
2016 |
rs28932472
|
|
Obesity
|
|
0.030 |
GeneticVariation
|
BEFREE |
These results show that a) the R236G substitution of POMC gene, although not a major cause of obesity among Italian obese children and adolescents, is associated with early onset obesity, and that b) inherited alterations of the melanocortin signaling pathway, independently of the degree of obesity, do not preclude the possibility to lose weight in mutated individuals following a hypocaloric diet.
|
16682835 |
2006 |
rs28932472
|
|
Obesity
|
|
0.030 |
GeneticVariation
|
BEFREE |
These results suggest that the R236G mutation may confer an inherited susceptibility to obesity through the production of an aberrant fusion protein that has the capacity to interfere with central melanocortin signalling.
|
12165561 |
2002 |
rs1042571
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
Analysis of MC4R rs17782313, POMC rs1042571, APOE-Hha1 and AGRP rs3412352 genetic variants with susceptibility to obesity risk in North Indians.
|
26226973 |
2016 |
rs1042571
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
The common variant rs1042571 in the 3'UTR was significantly associated with BMI in EAs (Overweight: P(adj) = 0.005; Obese: P(adj) = 0.018; Overweight+Obese: P(adj) = 0.002) but not in AAs.
|
23028917 |
2012 |
rs201408477
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
Furthermore, both mutations PCSK1-p.Asn180Ser and POMC-p.Phe144Leu, which had previously been reported to be associated with severe obesity, were also identified in this study, but did not co-segregate with obesity.
|
24890885 |
2015 |
rs201408477
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
The novel heterozygous mutation Phe144Leu leading to the absence of melanocortin signaling was associated with early-onset obesity suggesting its pathogenic role.
|
18091355 |
2008 |
rs45463492
|
|
Aarskog syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
This is the first report of FGD associated with a compound heterozygous mutation of C21Y and R146H in the MC2R gene.
|
17128565 |
2006 |
rs45463492
|
|
Aarskog syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
We describe a girl born to consanguineous Pakistani parents with clinical and biochemical features of FGD who is homozygous for the R146H mutation of the adrenocorticotropic hormone (ACTH) receptor gene.
|
9550364 |
1998 |
rs767700712
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
Highlighting the significance of this gap in knowledge, a single POMC cysteine-to-phenylalanine mutation at position 28 (POMC-C28F) is defective for ER processing and causes early onset obesity in a dominant-negative manner in humans through an unclear mechanism.
|
29457782 |
2018 |
rs767700712
|
|
Obesity
|
|
0.020 |
GeneticVariation
|
BEFREE |
Two novel heterozygous missense mutations in POMC (C28F and L37F) were identified in unrelated probands with early-onset obesity and their overweight or obese family members.
|
18697863 |
2008 |
rs1009388
|
|
Congestive heart failure
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate the possible associations of defined variability in leptin (dbSNP ID rs7799039), proopiomelanocortin (dbSNP ID rs3754860 and dbSNP ID rs1009388), and leptin receptor gene (dbSNP rs1137101) with CHF and evaluate their potential as the CHF susceptibility genes.
|
19337797 |
2009 |
rs1042571
|
|
Bulimia Nervosa
|
|
0.010 |
GeneticVariation
|
BEFREE |
AGRP rs13338499 polymorphism was associated with lowest illness-related BMI in those with AN (p = 0.0013), and NTRK2 rs1042571 was associated with highest BMI in those with BN (p = 0.0018).
|
24831852 |
2014 |
rs1042571
|
|
Anorexia Nervosa
|
|
0.010 |
GeneticVariation
|
BEFREE |
AGRP rs13338499 polymorphism was associated with lowest illness-related BMI in those with AN (p = 0.0013), and NTRK2 rs1042571 was associated with highest BMI in those with BN (p = 0.0018).
|
24831852 |
2014 |
rs10654394
|
|
Substance Dependence
|
|
0.010 |
GeneticVariation
|
BEFREE |
The common variant, rs10654394, was not associated with BMI and neither common variant was associated with SD in either population.
|
23028917 |
2012 |
rs1173597023
|
|
Obesity
|
|
0.010 |
GeneticVariation
|
BEFREE |
Functional characterization of a new human melanocortin-4 receptor homozygous mutation (N72K) that is associated with early-onset obesity.
|
25163632 |
2014 |
rs1181875747
|
|
Amyotrophic Lateral Sclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
As pioglitazone increases body weight through a direct inhibition of the hypothalamic melanocortin system, we studied hypothalamic neurons producing proopiomelanocortin (POMC) and the endogenous melanocortin inhibitor agouti-related peptide (AGRP), in mice expressing amyotrophic lateral sclerosis-linked mutant SOD1(G86R).
|
26984187 |
2016 |
rs1208512558
|
|
Paraganglioma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland.
|
12386824 |
2002 |