FBN1, fibrillin 1, 2200

N. diseases: 137; N. variants: 1044
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 29 2 1986 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 29 2 1986 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 29 4 1986 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 81 93 0.100 None 1.000 29 2 1986 2016
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 6 0.700 None 1.000 2 1 2011 2019
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1 26 0.650 None 1.000 1 26 1992 2019
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 17 19 0.100 None 0 3
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease Cardiovascular Diseases Anatomical Abnormality 9 15 0.120 None 1.000 0 7 2014 2016
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 13 0.100 None 0 3
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 3 3 0.100 None 0 1
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection 		phenotype Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		phenotype Finding 8 17 0.100 None 0 10
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 26 29 0.100 None 0 2
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype Finding 7 7 0.100 None 0 1
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 11
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 3 3 0.100 None 0 1
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 10 10 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 35 49 0.100 None 0 4
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 28 54 0.100 None 0 2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 88 106 0.100 None 0 1
CUI: C0426422
Disease: Narrow nose
Narrow nose 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0428851
Disease: Dilatation of pulmonary artery, unspecified
Dilatation of pulmonary artery, unspecified 		disease Disease or Syndrome 2 2 0.100 None 0 1
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 31 40 0.100 None 0 1