Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus
0.020 GeneticVariation disease BEFREE Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency. 23800642 2014
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus
0.020 GeneticVariation disease BEFREE Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. 24280991 2013