Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease CLINGEN Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome. 20639396 2010
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease CLINGEN Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. 14569121 2003
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease GENOMICS_ENGLAND
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR