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: rs121918111
rs121918111
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1857854
Disease:
Proopiomelanocortin Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs121918112
rs121918112
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1857854
Disease:
Proopiomelanocortin Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553400259
rs1553400259
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1857854
Disease:
Proopiomelanocortin Deficiency
G 0.700 CausalMutation CLINVAR
dbSNP: rs28932472
rs28932472
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C4016341
Disease:
OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs753856820
rs753856820
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1857854
Disease:
Proopiomelanocortin Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs796065034
rs796065034
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1857854
Disease:
Proopiomelanocortin Deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs796065035
rs796065035
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1857854
Disease:
Proopiomelanocortin Deficiency
GCC 0.700 CausalMutation CLINVAR
dbSNP: rs28932472
rs28932472
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs28932472
rs28932472
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs28932472
rs28932472
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs767700712
rs767700712
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs1042571
rs1042571
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs201408477
rs201408477
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs1042571
rs1042571
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs201408477
rs201408477
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs767700712
rs767700712
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0028754
Disease:
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
dbSNP: rs45463492
rs45463492
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0175701
Disease:
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
dbSNP: rs45463492
rs45463492
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0175701
Disease:
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
dbSNP: rs1477692170
rs1477692170
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0162835
Disease:
Hypopigmentation disorder
0.010 GeneticVariation BEFREE K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation. 28114924 2017
dbSNP: rs1477692170
rs1477692170
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1876214
Disease:
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
0.010 GeneticVariation BEFREE K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation. 28114924 2017
dbSNP: rs917202708
rs917202708
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0162835
Disease:
Hypopigmentation disorder
0.010 GeneticVariation BEFREE K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation. 28114924 2017
dbSNP: rs917202708
rs917202708
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C1876214
Disease:
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
0.010 GeneticVariation BEFREE K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation. 28114924 2017
dbSNP: rs1181875747
rs1181875747
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0002736
Disease:
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
dbSNP: rs1237859972
rs1237859972
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0242343
Disease:
Panhypopituitarism
0.010 GeneticVariation BEFREE A patient homozygous for p.R160H was previously reported in a patient with CPHD, EPP, APH. 27000987 2016
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