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: C0022548
Disease: Keloid
Keloid
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 170 8 0.030 1.000 3 2005 2016
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 84 2 0.010 1.000 1 2006 2006
CUI: C2936380
Disease: Neointima
Neointima
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 5 0.300 1 2009 2009
CUI: C0002940
Disease: Aneurysm
Aneurysm
phenotype Cardiovascular Diseases Anatomical Abnormality 151 7 0.100 0.917 12 2006 2015
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 63 2 0.310 2 2004 2006
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 137 0.310 < 0.001 2 2013 2015
CUI: C0332886
Disease: Coarctation
Coarctation
phenotype Anatomical Abnormality 2 0.010 1.000 1 2013 2013
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 116 256 0.100 1 1 2017 2017
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 250 16 0.030 1.000 3 2008 2010
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 48 2 0.310 1.000 2 2000 2016
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 12 0.010 1.000 1 1997 1997
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 48 0.010 1.000 1 2013 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Congenital Abnormality 276 31 0.010 1.000 1 1982 1982
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 316 19 0.010 1.000 1 2012 2012
Congenital posterior urethral valves
disease Congenital Abnormality 9 0.010 < 0.001 1 2005 2005
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 198 7 0.010 1.000 1 2012 2012
CUI: C0344911
Disease: Left ventricular dilatation
Left ventricular dilatation
disease Congenital Abnormality 9 1 0.010 < 0.001 1 1996 1996
CUI: C0597966
Disease: Juxtaglomerular cell hyperplasia
Juxtaglomerular cell hyperplasia
disease Congenital Abnormality 1 0.010 1.000 1 1982 1982
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital Abnormality 124 1 0.100 0
CUI: C0266619
Disease: Potter's facies
Potter's facies
disease Congenital Abnormality 10 0.100 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.600 0.942 473 11 1980 2018
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 277 126 0.400 0.960 150 1 1988 2018
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 560 110 0.400 0.865 54 1996 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1133 131 0.600 0.979 51 1998 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 638 93 0.400 0.886 48 4 1995 2016