POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Obesity ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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