AQP2, aquaporin 2, 359

N. diseases: 114; N. variants: 41
Disease: Popliteal pterygium syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome 		0.010 Biomarker disease BEFREE AQP2 = aquaporin-2; AVP = vasopressin; CDI = central diabetes insipidus; cCDI = complete central diabetes insipidus; DDAVP = desmopressin; DI = diabetes insipidus; IQR = interquartile range; MRI = magnetic resonance imaging; Na<sup>+</sup> = sodium; NDI = nephrogenic diabetes insipidus; pCDI = partial central diabetes insipidus; PP = primary polydipsia; PPS = polyuria-polydipsia syndrome; S_osm = serum osmolality; U_osm = urine osmolality; WDT = water deprivation test. 30106630 2018