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: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 6 32 0.100 None 1.000 81 16 2002 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 20 4 1968 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 20 7 1968 2016
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Congenital Abnormality 1 3 0.100 None 1.000 10 3 2001 2012
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 1.000 7 14 2001 2008
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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 89 118 0.100 None 1.000 6 4 2001 2018
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 56 64 0.100 None 1.000 6 5 2001 2009
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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 63 77 0.100 None 1.000 4 13 2001 2006
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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 35 49 0.100 None 1.000 4 5 2002 2009
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 19 20 0.100 None 1.000 4 1 2001 2012
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 9 14 0.100 None 1.000 4 4 2002 2009
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 15 14 0.100 None 1.000 3 1 2002 2008
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		phenotype Finding 2 3 0.100 None 1.000 3 2 2005 2018
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: 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 25 33 0.100 None 1.000 2 1 2001 2006
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: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 22 135 0.100 None 1.000 1 3 2016 2016
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