ELN, elastin, 2006

N. diseases: 545; N. variants: 61
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 supravalvular aortic stenosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 1 0.310 None 1.000 3 2000 2010
CUI: C0432334
Disease: Inherited cutis laxa
Inherited cutis laxa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None < 0.001 1 2011 2011
CUI: C3276539
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1
CUTIS LAXA, AUTOSOMAL DOMINANT 1
disease Disease or Syndrome 1 1 0.400 None 1.000 1 1 2006 2006
Idiopathic atrophoderma of Pasini and Pierini
disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
Pseudoxanthoma elasticum-like papillary dermal elastolysis
disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C4751167
Disease: Late-onset focal dermal elastosis
Late-onset focal dermal elastosis
disease Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C3178892
Disease: Pelvic Floor Disorders
Pelvic Floor Disorders
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C3264562
Disease: Buried penis
Buried penis
disease Congenital Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C4273756
Disease: Hepatoportal sclerosis
Hepatoportal sclerosis
disease Disease or Syndrome 2 1 0.010 None 1.000 1 2012 2012
CUI: C4022392
Disease: Early onset of sexual maturation
Early onset of sexual maturation
phenotype Finding 2 0.100 None 0
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 3 0.670 None 1.000 10 1 1997 2018
CUI: C1698818
Disease: Photodamaged skin
Photodamaged skin
disease Disease or Syndrome 3 0.030 None 1.000 3 1994 2019
CUI: C4728147
Disease: Mid-dermal elastolysis
Mid-dermal elastolysis
disease Disease or Syndrome 3 0.030 None 1.000 3 2010 2019
CUI: C0406549
Disease: Cutis laxa, acquired type
Cutis laxa, acquired type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2006 2006
CUI: C1717804
Disease: Emphysema or COPD
Emphysema or COPD
disease Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
CUI: C1969833
Disease: COPD, Severe Early-Onset
COPD, Severe Early-Onset
disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2009 2009
CUI: C2242658
Disease: Aortic dissection rupture
Aortic dissection rupture
disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C2350875
Disease: Constrictive Bronchiolitis
Constrictive Bronchiolitis
disease Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2007 2007
CUI: C0005742
Disease: Blepharochalasis
Blepharochalasis
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 2005 2005
CUI: C0264133
Disease: Acquired flat foot
Acquired flat foot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 4 0.010 None 1.000 1 1990 1990
CUI: C0012819
Disease: Diverticular disease of colon
Diverticular disease of colon
disease Digestive System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2012 2012
CUI: C0334460
Disease: Elastofibroma
Elastofibroma
disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2015 2015
CUI: C0549175
Disease: Fibromatosis colli
Fibromatosis colli
disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2013 2013
CUI: C1395674
Disease: Bowel diverticulosis
Bowel diverticulosis
disease Disease or Syndrome 5 0.100 None 0
CUI: C0334083
Disease: Connective tissue nevus, NOS
Connective tissue nevus, NOS
disease Neoplasms Neoplastic Process 6 1 0.030 None 1.000 3 1981 2017