POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.020 GeneticVariation disease BEFREE K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation. 28114924 2017
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		0.020 Biomarker disease BEFREE Thus, a decrease in circulating plasma immunoreactive beta-MSH (LPH) does not appear to be the cause of the hypopigmentation observed in some patients with PLWS. 3688022 1987