Disease: Protein-Losing Enteropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.120 GeneticVariation group BEFREE The Q330* mutation is predicted to result in complete loss of PLVAP protein expression leading to deletion of the diaphragms of endothelial fenestrae, resulting in plasma protein extravasation and PLE. 29661969 2018
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.120 GeneticVariation group BEFREE Recently, homozygous nonsense variants in the plasmalemma vesicle-associated protein gene (<i>PLVAP</i>) were reported in two patients with severe congenital PLE. 29875123 2018
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.120 Biomarker group HPO