AQP2, aquaporin 2, 359

N. diseases: 114; N. variants: 41
Disease: Variegate Porphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.010 AlteredExpression disease BEFREE This result helps us better understand the independent pathways that can target different AQP2 residues, and design new strategies to induce or sustain AQP2 membrane expression when VP signalling is defective. 30488437 2019