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: 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</span>, EPP, APH. 27000987 2016