Disease: Endocrine System Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases 		0.020 Biomarker group BEFREE A better understanding of these molecular and cellular pathologies may illuminate possible treatments for the complex endocrinopathy of PCSK1 deficiency, including obesity. 27288825 2016
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases 		0.020 Biomarker group BEFREE This review provides an overview of the endocrinopathies and other disorders observed in prohormone convertase 1/3-deficient patients, discusses the possible biochemical basis for these manifestations of the disease, and proposes a model whereby certain missense mutations in PCSK1 may result in proteins with a dominant negative action. 27187081 2016