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: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype Musculoskeletal Diseases Anatomical Abnormality 6 10 0.100 None 0 3
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 10 10 0.100 None 0 1
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 3 3 0.100 None 0 1
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: 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: 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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 38 0.100 None 0 1
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 24 31 0.100 None 0 1
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		disease Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 8 8 0.100 None 0 1
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease Musculoskeletal Diseases Finding 26 32 0.100 None 0 4
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 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