Gene: PCSK1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5122
Gene Symbol: PCSK1
PCSK1 		0.120 GeneticVariation phenotype BEFREE Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. 24280991 2013
Entrez Id: 5122
Gene Symbol: PCSK1
PCSK1 		0.120 GeneticVariation phenotype BEFREE Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with obesity, severe malabsorptive diarrhea, and certain endocrine abnormalities. 23562752 2013
Entrez Id: 5122
Gene Symbol: PCSK1
PCSK1 		0.120 Biomarker phenotype HPO