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: 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: 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