TMPRSS15, transmembrane serine protease 15, 5651

N. diseases: 20; N. variants: 6
Disease: Enterokinase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		0.620 Biomarker disease BEFREE Focusing instead on genes that are involved in energy absorption and that are associated with a "human starvation phenotype", we have identified enteropeptidase (EP), a gene associated with congenital enteropeptidase deficiency, as a novel target for obesity treatment. 23185382 2012
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		0.620 Biomarker disease BEFREE The important biological function of enteropeptidase is highlighted by the manifestation of severe diarrhea, failure to thrive, hypoproteinemia and edema as a result of congenital deficiency of enteropeptidase activity in the gut. 19482641 2009
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		0.620 CausalMutation disease CLINVAR Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. 11719902 2002
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		0.620 GermlineCausalMutation disease ORPHANET Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. 11719902 2002
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		0.620 GeneticVariation disease CLINVAR
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		0.620 Biomarker disease CTD_human