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.
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.110 None 1.000 10 1 1994 2018
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness
phenotype Disease or Syndrome 61 11 0.060 None 1.000 6 2009 2019
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy
disease Disease or Syndrome 56 67 0.050 None 0.800 5 2 2008 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 1993 2017
CUI: C1402315
Disease: Vascular lesions
Vascular lesions
disease Disease or Syndrome 111 9 0.030 None 1.000 3 2001 2012
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
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.020 None 1.000 2 2010 2018
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.020 None 1.000 2 2010 2018
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0221500
Disease: Effects of heat
Effects of heat
phenotype Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0345049
Disease: Ascending aorta dilatation
Ascending aorta dilatation
disease Anatomical Abnormality 7 0.010 None 1.000 1 2009 2009
CUI: C0578575
Disease: Dissection of proximal aorta
Dissection of proximal aorta
disease Disease or Syndrome 26 0.010 None 1.000 1 2011 2011
CUI: C0586407
Disease: Skin symptom
Skin symptom
phenotype Sign or Symptom 19 0.010 None 1.000 1 2009 2009
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2017 2017
CUI: C0745133
Disease: Isolated systolic hypertension
Isolated systolic hypertension
disease Disease or Syndrome 22 3 0.010 None 1.000 1 2 2009 2009
CUI: C0849640
Disease: skin damage
skin damage
phenotype Sign or Symptom 64 0.010 None 1.000 1 2019 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C1274728
Disease: Atrophic acne scar
Atrophic acne scar
disease Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C1511789
Disease: Desmoplastic
Desmoplastic
disease Disease or Syndrome 117 4 0.010 None 1.000 1 1990 1990
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1996 1996
CUI: C1717804
Disease: Emphysema or COPD
Emphysema or COPD
disease Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
CUI: C2242658
Disease: Aortic dissection rupture
Aortic dissection rupture
disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010