Source: CLINVAR ×
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: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		disease Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 1.000 7 1 2001 2007
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 2 2 0.100 None 1.000 4 1 2003 2006
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 19 20 0.100 None 1.000 4 1 2001 2012
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 4 1 2004 2006
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
Congenital insufficiency of pulmonary valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 1 0.100 None 1.000 4 1 2001 2012
CUI: C0442887
Disease: Septal hypertrophy
Septal hypertrophy 		disease Acquired Abnormality 1 1 0.100 None 1.000 4 1 2002 2009
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.100 None 1.000 3 1 2002 2008
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 1 1 0.120 None 1.000 3 1 2002 2015
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 15 14 0.100 None 1.000 3 1 2002 2008
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 4 7 0.100 None 1.000 2 1 2001 2005
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 11 11 0.100 None 1.000 2 1 2001 2005
CUI: C0700199
Disease: Multiple nevi
Multiple nevi 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 1 0.100 None 1.000 2 1 2001 2005
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 26 31 0.110 None 1.000 2 1 2001 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 25 33 0.100 None 1.000 2 1 2001 2006
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 4 5 0.100 None 1.000 1 1 2018 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 37 211 0.120 None 1.000 1 1 2015 2018
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 2 2 0.100 None 1.000 1 1 2018 2018
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 30 188 0.100 None 1.000 1 1 2016 2016
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 4 4 0.110 None 1.000 1 1 2007 2018
CUI: C0277959
Disease: Coarse hair
Coarse hair 		phenotype Finding 3 4 0.100 None 0 1
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 10 9 0.100 None 0 1
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		phenotype Musculoskeletal Diseases Finding 6 7 0.100 None 0 1
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype Finding 3 2 0.100 None 0 1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 29 30 0.100 None 0 1
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 9 13 0.100 None 0 1