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: C0410530
Disease: Metachondromatosis
Metachondromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 1 29 0.750 None 0.963 21 29 2001 2018
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 22 0.700 None 1.000 19 22 2001 2018
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: 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: 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: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 1 1 0.120 None 1.000 3 1 2002 2015
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: 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: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0030353
Disease: Papilledema
Papilledema 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0033999
Disease: Pterygium
Pterygium 		disease Eye Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0455792
Disease: Small scrotum
Small scrotum 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4025818
Disease: Abnormality of skeletal maturation
Abnormality of skeletal maturation 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4073188
Disease: Abnormality of the somatic nervous system
Abnormality of the somatic nervous system 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
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: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		phenotype Finding 2 3 0.100 None 1.000 3 2 2005 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: C0162819
Disease: Skin Diseases, Vascular
Skin Diseases, Vascular 		group Skin and Connective Tissue Diseases Disease or Syndrome 2 2 0.100 None 0 1
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 8 0.100 None 0 7
CUI: C0332563
Disease: Papule
Papule 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 131 0.100 None 0 1
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 2 0.100 None 0 1
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 2 9 0.150 None 1.000 0 8 2002 2015
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		phenotype Finding 2 2 0.100 None 0 1