Source: ALL
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: 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: 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: 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: C0239894
Disease: HEART DISPLACEMENT
HEART DISPLACEMENT 		disease Congenital Abnormality 1 0.010 None 1.000 1 2014 2014
CUI: C1328928
Disease: Multiple Lentigines/LEOPARD syndrome
Multiple Lentigines/LEOPARD syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
CUI: C4025162
Disease: Multiple digital exostoses
Multiple digital exostoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Neoplastic Process 1 0.100 None 0
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: C0700199
Disease: Multiple nevi
Multiple nevi 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 1 0.100 None 1.000 2 1 2001 2005
CUI: C0002016
Disease: Aleutian Mink Disease
Aleutian Mink Disease 		disease Infections; Eye Diseases; Immune System Diseases; Animal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0344772
Disease: Cleft leaflet of mitral valve
Cleft leaflet of mitral valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C0391922
Disease: Hemorrhagic enteritis
Hemorrhagic enteritis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		disease Disease or Syndrome 2 10 0.100 None 0 1
CUI: C3472624
Disease: B lymphoblastic leukemia lymphoma, no ICD-O subtype
B lymphoblastic leukemia lymphoma, no ICD-O subtype 		disease Neoplastic Process 2 2 0.100 None 0 1
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
Hypertrophic cardiomyopathy without obstruction 		disease Cardiovascular Diseases Disease or Syndrome 3 3 0.100 None 1.000 7 1 2001 2007
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		phenotype Finding 3 3 0.100 None 1.000 3 2 2005 2018
CUI: C0235813
Disease: Neonatal leukaemia
Neonatal leukaemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C3161106
Disease: Pulmonary interstitial glycogenosis
Pulmonary interstitial glycogenosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C0455792
Disease: Small scrotum
Small scrotum 		phenotype Finding 3 1 0.100 None 0 1
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 25 0.040 None 1.000 4 2005 2014
CUI: C1861235
Disease: Forebrain Defects
Forebrain Defects 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders Disease or Syndrome 4 1 0.010 None 1.000 1 2002 2002
CUI: C2215935
Disease: Electrocardiogram atrioventricular block complete heart block
Electrocardiogram atrioventricular block complete heart block 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 4 0.100 None 0
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 5 29 0.750 None 0.963 27 29 2001 2018
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2019 2019
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
Desmoplastic infantile astrocytoma 		disease Neoplasms Neoplastic Process 5 2 0.010 None 1.000 1 2014 2014