POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1351141519
rs1351141519
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0001627
Disease:
Congenital adrenal hyperplasia
0.010 GeneticVariation BEFREE 3-β-hydroxysteroid dehydrogenase (HSD3B2) deficiency accounts for less than 5% of congenital adrenal hyperplasia worldwide, but is relatively common among the Old Order Amish of North America due to a HSD3B2 c.35G>A founder mutation. 26079780 2015
dbSNP: rs1351141519
rs1351141519
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342471
Disease:
3 beta-Hydroxysteroid dehydrogenase deficiency
0.010 GeneticVariation BEFREE Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes. 26079780 2015
dbSNP: rs1449052677
rs1449052677
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Finally, we did not identify any rare mutations co-segregating with obesity in common obesity susceptibility genes, except for CADM2 and QPCTL, where we found two novel variants (p.Arg81His and p.Leu98Pro, respectively) in three obese individuals. 24890885 2015
dbSNP: rs201408477
rs201408477
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028756
Disease:
Obesity, Morbid
0.010 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
dbSNP: rs1042571
rs1042571
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C2267227
Disease:
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
dbSNP: rs1042571
rs1042571
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0003125
Disease:
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
dbSNP: rs1173597023
rs1173597023
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs759506294
rs759506294
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0262587
Disease:
Parathyroid Adenoma
0.010 GeneticVariation BEFREE To assess the risk associated with polymorphism rs2066827 (p27-V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas, n=252; pheochromocytomas, n=125; medullary thyroid carcinoma, n=51; and parathyroid adenomas, n=19) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. 24532476 2014
dbSNP: rs768299768
rs768299768
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0262587
Disease:
Parathyroid Adenoma
0.010 GeneticVariation BEFREE To assess the risk associated with polymorphism rs2066827 (p27-V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas, n=252; pheochromocytomas, n=125; medullary thyroid carcinoma, n=51; and parathyroid adenomas, n=19) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. 24532476 2014
dbSNP: rs12473543
rs12473543
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), were nominally associated with PCOS. 23375202 2013
dbSNP: rs10654394
rs10654394
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0038580
Disease:
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
dbSNP: rs752077839
rs752077839
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C4054695
Disease:
Familial glucocorticoid deficiency
0.010 GeneticVariation BEFREE An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). 22337906 2012
dbSNP: rs1364647619
rs1364647619
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0344315
Disease:
Depressed mood
0.010 GeneticVariation BEFREE Among the common SNPs, the nonsynonymous SNP, rs885479 (R163Q) was associated with the diagnosis of depression (P=0.04). 21052032 2011
dbSNP: rs1364647619
rs1364647619
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0011570
Disease:
Mental Depression
0.010 GeneticVariation BEFREE Among the common SNPs, the nonsynonymous SNP, rs885479 (R163Q) was associated with the diagnosis of depression (P=0.04). 21052032 2011
dbSNP: rs1364647619
rs1364647619
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0011581
Disease:
Depressive disorder
0.010 GeneticVariation BEFREE Among the common SNPs, the nonsynonymous SNP, rs885479 (R163Q) was associated with the diagnosis of depression (P=0.04). 21052032 2011
dbSNP: rs1009388
rs1009388
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0018802
Disease:
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
dbSNP: rs3754860
rs3754860
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0018802
Disease:
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
dbSNP: rs6713532
rs6713532
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0600427
Disease:
Cocaine Dependence
0.010 GeneticVariation BEFREE Case-control analyses demonstrated an association of rs6713532 with alcohol or cocaine dependence in EAs (p(allele-wise) = .003-.008). 19217079 2009
dbSNP: rs202042867
rs202042867
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0151779
Disease:
Cutaneous Melanoma
0.010 GeneticVariation BEFREE Although our findings need to be confirmed by independent and larger studies we have described for the first time the association of D84E variant of the alpha-MSH receptor 1 gene as an independent risk factor for an earlier onset of cutaneous malignant melanoma. 18657399 2008
dbSNP: rs768299768
rs768299768
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0175701
Disease:
Aarskog syndrome
0.010 GeneticVariation BEFREE The molecular analysis of FGD patients revealed a novel p.Gly116Val mutation in the MC2R gene in one patient and p.Met1Ile mutation in the MRAP gene in another patient. 18426811 2008
dbSNP: rs768768839
rs768768839
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0852654
Disease:
21-hydroxylase deficiency
0.010 GeneticVariation BEFREE The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2. 17992539 2008
dbSNP: rs768768839
rs768768839
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C2936858
Disease:
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
0.010 GeneticVariation BEFREE The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2. 17992539 2008
dbSNP: rs768768839
rs768768839
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0268287
Disease:
Deficiency of steroid 21-monooxygenase
0.010 GeneticVariation BEFREE The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2. 17992539 2008
dbSNP: rs776588032
rs776588032
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
Obesity
0.010 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
dbSNP: rs913377707
rs913377707
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1291316
Disease:
Deficiency of reductase
0.010 GeneticVariation BEFREE The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level. 18717241 2008