POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Anorexia Nervosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750136455
rs750136455
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0003125
Disease:
Anorexia Nervosa 		0.010 GeneticVariation BEFREE This proband inherited another missense mutation from her father (Glu-188-Gly). c) A missense mutation (G-7016-A; Asp-80-Asn) was observed in a single patient with AN who also harboured the 9bp insertion on a paternally derived haplotype. d) The allelic co-occurence of two silent mutations (C-6982-T and C-7285-T) was detected in two obese subjects. e) Two further silent mutations (C-3832-T; C-7111-G) were detected in an underweight and an obese subject, respectively. 9768693 1998