Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker disease MGD
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker disease MGD
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.700 CausalMutation disease CLINVAR
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.700 GeneticVariation disease CLINVAR
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting 		0.410 Biomarker disease HPO
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		0.410 Biomarker disease HPO
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.400 CausalMutation phenotype CLINVAR
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.400 SusceptibilityMutation phenotype CLINVAR
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.250 Biomarker disease MGD
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.200 CausalMutation disease CLINVAR
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 Biomarker group HPO
CUI: C0157946
Disease: Osteoarthrosis, localized, not specified whether primary or secondary
Osteoarthrosis, localized, not specified whether primary or secondary 		0.200 Biomarker disease MGD
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.150 Biomarker disease HPO
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		0.130 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.120 Biomarker group HPO
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.120 Biomarker disease HPO
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.110 CausalMutation disease CLINVAR
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		0.110 Biomarker disease HPO
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.100 Biomarker disease HPO
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.100 CausalMutation disease CLINVAR
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.100 Biomarker disease HPO