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: C0268335
Disease: Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 1
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 6 52 0.800 4 5 1998 2017
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 0.400 strong 1.000 14 1997 2017
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.310 1.000 1 1999 1999
CUI: C4225429
Disease: Ehlers-Danlos syndrome classic type
Ehlers-Danlos syndrome classic type
disease Disease or Syndrome 3 2 0.300 3 1998 2016
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 137 0.300 1 2009 2009
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 1 2015 2015
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 57 3 0.300 strong 1 2016 2016
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.300 1 2016 2016
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal
disease Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0.300 1 2009 2009
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.300 1 2016 2016
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 98 66 0.300 limited 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum
phenotype Anatomical Abnormality 16 0.100 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
phenotype Finding 43 2 0.100 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 67 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
CUI: C0241181
Disease: Fragile skin
Fragile skin
phenotype Finding 21 1 0.100 0
CUI: C0264133
Disease: Acquired flat foot
Acquired flat foot
phenotype Acquired Abnormality 103 0.100 0
CUI: C0266614
Disease: Bat ear
Bat ear
disease Congenital Abnormality 5 0.100 0
CUI: C1394691
Disease: Bowel diverticula
Bowel diverticula
disease Disease or Syndrome 6 0.100 0
CUI: C1395674
Disease: Bowel diverticulosis
Bowel diverticulosis
disease Disease or Syndrome 6 0.100 0
CUI: C4293700
Disease: Subcutaneous spheroids
Subcutaneous spheroids
phenotype Pathologic Function 3 0.100 0
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow
phenotype Anatomical Abnormality 4 1 0.100 0
CUI: C4023802
Disease: Hyperextensibility of the knee
Hyperextensibility of the knee
phenotype Anatomical Abnormality 3 0.100 0