Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
0.030 GeneticVariation disease BEFREE Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population. 27567292 2016
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
0.030 AlteredExpression disease BEFREE To determine whether the vascular expression of polycystin-2 is similar to that of polycystin-1, the expression of PKD2 mRNA and protein in cultured pig aortic VSMC was studied and immunofluorescence and immunohistochemistry were used to study the localization of polycystin-2 in cultured pig aortic VSMC, pig ascending thoracic aorta, and normal elastic and intracranial arteries and intracranial aneurysms obtained at autopsy from patients without or with ADPKD. 11134244 2001
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
0.030 Biomarker disease BEFREE When the mutation is located on chromosome 16 (PKD1), extra-renal manifestations such as the rupture of intracranial aneurysms are well known. 8749697 1995