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: C0333099
Disease: Fusiform Aneurysm
Fusiform Aneurysm
phenotype Cardiovascular Diseases Anatomical Abnormality 1 0.300 1 2012 2012
CUI: C0747918
Disease: pregnancy preterm
pregnancy preterm
disease Disease or Syndrome 1 0.010 1.000 1 2012 2012
Superior limbic keratoconjunctivitis
disease Disease or Syndrome 2 0.010 1.000 1 2011 2011
CUI: C3695127
Disease: Astrocytoma of brain
Astrocytoma of brain
disease Neoplastic Process 2 0.010 1.000 1 2007 2007
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 13 0.300 0
CUI: C0238239
Disease: Light chain disease
Light chain disease
disease Disease or Syndrome 3 0.010 1.000 1 2005 2005
CUI: C0349516
Disease: Isolated aortic stenosis
Isolated aortic stenosis
disease Disease or Syndrome 3 0.010 < 0.001 1 2006 2006
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 3 0.010 < 0.001 1 2009 2009
CUI: C1969236
Disease: Mitten deformity
Mitten deformity
disease Congenital Abnormality 3 0.100 0
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 17 0.300 0
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 19 0.300 0
CUI: C0011620
Disease: Stasis dermatitis
Stasis dermatitis
disease Disease or Syndrome 4 0.010 1.000 1 2001 2001
CUI: C0521858
Disease: Decreased drug resistance
Decreased drug resistance
phenotype Disease or Syndrome 4 0.010 1.000 1 2013 2013
CUI: C4316878
Disease: Loss of eyelashes
Loss of eyelashes
phenotype Finding 4 0.100 0
CUI: C0221259
Disease: Trichiasis
Trichiasis
disease Eye Diseases Disease or Syndrome 5 0.010 1.000 1 2010 2010
Cervical Squamous Cell Carcinoma In Situ
disease Neoplastic Process 5 0.010 1.000 1 2002 2002
CUI: C2713497
Disease: Saccular Aneurysm
Saccular Aneurysm
disease Cardiovascular Diseases Pathologic Function 5 0.300 1 2012 2012
CUI: C3899281
Disease: Early Inflammatory Arthritis
Early Inflammatory Arthritis
disease Disease or Syndrome 5 0.010 1.000 1 1999 1999
CUI: C0878693
Disease: Conjunctivochalasis
Conjunctivochalasis
disease Disease or Syndrome 6 0.020 0.500 2 2000 2000
CUI: C0154051
Disease: Hemangioma of retina
Hemangioma of retina
disease Neoplastic Process 6 0.010 1.000 1 2009 2009
CUI: C0334163
Disease: Fibrous bands
Fibrous bands
phenotype Acquired Abnormality 6 0.010 1.000 1 1997 1997
CUI: C0341299
Disease: Collagenous Sprue
Collagenous Sprue
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 1.000 1 2007 2007
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 5 0.310 1.000 1 2010 2010
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder
disease Disease or Syndrome 7 1 0.010 1.000 1 1999 1999
Direct Contact Transmission Infection
disease Disease or Syndrome 7 0.010 1.000 1 2010 2010