FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
Source: ALL
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.
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 1.000 strong 0.979 47 28 1973 2019
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.500 limited 1.000 6 1994 2015
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET
disease Disease or Syndrome 6 3 0.500 None 1.000 1 2 2014 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.310 None 1.000 2 2011 2012
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 22 15 0.300 None 1.000 3 2001 2010
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2011 2011
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 130 1012 0.200 None 1.000 11 1 1993 2020
CUI: C1861238
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 10
ARTHROGRYPOSIS, DISTAL, TYPE 10
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.200 None 1.000 3 2001 2010
CUI: C1852597
Disease: Arthrogryposis, distal, type 2E
Arthrogryposis, distal, type 2E
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.200 None 1.000 3 2001 2010
Arthrogryposis-like hand anomaly and sensorineural deafness
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.200 None 1.000 3 2001 2010
ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.200 None 1.000 3 2001 2010
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 11 0.200 None 1.000 3 2001 2010
CUI: C3280526
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B
ARTHROGRYPOSIS, DISTAL, TYPE 1B
disease Disease or Syndrome 4 3 0.200 None 1.000 3 2001 2010
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D
disease Disease or Syndrome 3 20 0.200 None 1.000 3 2001 2010
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 9 10 0.200 None 1.000 3 2001 2010
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 15 3 0.200 None 1.000 3 2001 2010
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 26 6 0.200 None 1.000 3 2001 2010
CUI: C0265226
Disease: Hecht syndrome (disorder)
Hecht syndrome (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 1 0.200 None 1.000 3 2001 2010
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 6 0.200 None 1.000 3 2001 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.150 None 1.000 6 1 2011 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.150 None 1.000 6 1 2007 2019
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.120 None 1.000 2 1 1995 2016
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 17 0.110 None 1.000 1 2013 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.110 None 1.000 1 1 2014 2014
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.110 None 1.000 1 2017 2017