Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.770 Biomarker disease CTD_human
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		0.610 CausalMutation disease CLINVAR
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C1869114
Disease: Weill-Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Recessive 		0.510 Biomarker disease CTD_human
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		0.500 Biomarker disease CTD_human
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.120 Biomarker disease HPO
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.110 Biomarker disease HPO
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		0.110 Biomarker disease HPO
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		0.100 Biomarker group HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		0.100 Biomarker disease HPO
CUI: C0241165
Disease: Thick skin
Thick skin 		0.100 Biomarker phenotype HPO
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		0.100 Biomarker disease HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.100 Biomarker disease HPO