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: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.900 limited 1.000 2 1 1996 2018
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: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 15 16 0.100 None 0 1
CUI: C4721438
Disease: Mitral valve dysplasia
Mitral valve dysplasia 		disease Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype Finding 5 5 0.100 None 0 1
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		phenotype Cardiovascular Diseases Disease or Syndrome 2 2 0.200 None 0.909 0 1 2008 2018
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 3 3 0.100 None 0 1
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: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 18 25 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: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 25 0.170 None 1.000 0 1 1993 2012
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		phenotype Finding 2 2 0.100 None 0 1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 0 1
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 5 16 0.100 None 0 1
CUI: C2316787
Disease: Chronic kidney disease stage 3
Chronic kidney disease stage 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 35 40 0.100 None 0 1
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax 		disease Respiratory Tract Diseases Disease or Syndrome 2 3 0.100 None 0 1
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 14 15 0.100 None 0 1
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 5 4 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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 8 8 0.100 None 0 1
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 31 40 0.100 None 0 1
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		disease Musculoskeletal Diseases Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1