FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		1.000 Biomarker disease CTD_human
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET 		0.500 Biomarker disease CTD_human
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.300 Biomarker disease HPO
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.200 GeneticVariation disease CLINVAR
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 Biomarker disease HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 GeneticVariation disease CLINVAR
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.110 Biomarker disease HPO
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.110 Biomarker disease HPO
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.110 Biomarker disease HPO
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.110 Biomarker disease HPO
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		0.100 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		0.100 Biomarker disease HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker disease HPO