ELN, elastin, 2006

N. diseases: 412; N. variants: 38
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: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis
disease Cardiovascular Diseases Disease or Syndrome 14 26 0.700 1.000 54 26 1988 2017
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 68 3 0.600 0.987 75 1988 2017
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.560 1.000 6 1998 2012
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 11 0.500 1.000 19 1 1981 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.500 1.000 13 1987 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 224 17 0.480 1.000 9 1990 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.420 moderate 1.000 2 1997 1998
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 668 408 0.400 1.000 11 1 2005 2015
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 98 66 0.330 limited 1.000 3 2014 2016
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.310 strong 1.000 4 1998 2006
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 431 13 0.310 1.000 3 2000 2016
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 447 44 0.310 1.000 2 2003 2005
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 63 2 0.310 1.000 2 1999 2002
Congenital supravalvular aortic stenosis
disease Congenital Abnormality; Disease or Syndrome 1 0.310 1.000 1 2001 2001
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 287 66 0.300 0.962 27 3 1987 2017
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease Respiratory Tract Diseases Disease or Syndrome 232 9 0.300 2 2000 2016
CUI: C1527303
Disease: Chronic Airflow Obstruction
Chronic Airflow Obstruction
disease Respiratory Tract Diseases Disease or Syndrome 32 0.300 1 2014 2014
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 57 3 0.300 strong 1 2006 2006
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 111 2 0.300 1 2003 2003
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 177 19 0.300 strong 1 1993 1993
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 11 0.300 1 2014 2014
CUI: C2350878
Disease: Focal Emphysema
Focal Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 11 0.300 1 2014 2014
CUI: C0221227
Disease: Centriacinar Emphysema
Centriacinar Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 13 0.300 1 2014 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.210 1.000 2 2012 2018
CUI: C0037116
Disease: Silicosis
Silicosis
disease Occupational Diseases; Respiratory Tract Diseases Disease or Syndrome 57 2 0.200 1 1995 1995