FBLN1, fibulin 1, 2192

N. diseases: 83; N. variants: 3
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.
CUI: C1842422
Disease: Synpolydactyly 2
Synpolydactyly 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.600 None 1.000 3 2002 2014
CUI: C0154863
Disease: Vitreoretinal dystrophy
Vitreoretinal dystrophy 		disease Disease or Syndrome 1 0.010 None 1.000 1 2003 2003
CUI: C1853255
Disease: Synpolydactyly 3
Synpolydactyly 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2006 2006
CUI: C1862697
Disease: Metatarsal synostosis
Metatarsal synostosis 		phenotype Finding 4 0.100 None 0
CUI: C0747742
Disease: polyp benign
polyp benign 		disease Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C1704328
Disease: Osteoblastic Osteosarcoma
Osteoblastic Osteosarcoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2011 2011
CUI: C4021398
Disease: Metacarpal synostosis
Metacarpal synostosis 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C0522051
Disease: Acute chest pain
Acute chest pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 13 0.010 None 1.000 1 2019 2019
CUI: C2699746
Disease: Syndactyly, type 2
Syndactyly, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 15 12 0.020 None 1.000 2 2002 2020
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis 		disease Congenital Abnormality 15 0.100 None 0
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 22 1 0.100 None 0
CUI: C2609259
Disease: Symphysis Pubis Dysfunction
Symphysis Pubis Dysfunction 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.010 None 1.000 1 2006 2006
CUI: C0233849
Disease: Personality Traits
Personality Traits 		group Behavior and Behavior Mechanisms Finding 24 78 0.100 None 1.000 1 1 2012 2012
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 0.010 None 1.000 1 2003 2003
CUI: C1135191
Disease: Heart Failure, Systolic
Heart Failure, Systolic 		disease Cardiovascular Diseases Disease or Syndrome 49 6 0.010 None 1.000 1 2017 2017
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.010 None 1.000 1 2002 2002
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		phenotype Disease or Syndrome 61 11 0.010 None 1.000 1 2018 2018
CUI: C4255010
Disease: Non-ST Elevated Myocardial Infarction
Non-ST Elevated Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 85 2 0.010 None 1.000 1 2019 2019
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process 99 32 0.010 None 1.000 1 2018 2018
CUI: C0278484
Disease: Malignant neoplasm of colon stage IV
Malignant neoplasm of colon stage IV 		disease Digestive System Diseases; Neoplasms Neoplastic Process 108 7 0.010 None 1.000 1 2006 2006
CUI: C0039075
Disease: Syndactyly
Syndactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.010 None 1.000 1 1 2014 2014
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 11 0.100 None 0
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.010 None 1.000 1 2011 2011
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		disease Nervous System Diseases Disease or Syndrome 182 46 0.010 None 1.000 1 2014 2014
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.100 None 0