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: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2019 2019
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		disease Nervous System Diseases Congenital Abnormality 39 0.320 None 1.000 4 2003 2013
CUI: C2936718
Disease: Fetal Cerebral Ventriculomegaly
Fetal Cerebral Ventriculomegaly 		disease Nervous System Diseases Congenital Abnormality 7 0.300 None 1.000 2 2003 2008
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2018 2018
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.100 None 0 1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 80 6 0.100 None 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.100 None 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.630 None 1.000 6 1973 2013
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 26 1 0.300 None 1.000 2 2003 2008
CUI: C0270720
Disease: Hydrocephalus Ex-Vacuo
Hydrocephalus Ex-Vacuo 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 2 2003 2008
CUI: C0477432
Disease: Post-Traumatic Hydrocephalus
Post-Traumatic Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 2 2003 2008
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 18 1 0.300 None 1.000 2 2003 2008
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 3 0.600 None 1.000 2 3 2012 2019
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		disease Nervous System Diseases Disease or Syndrome 34 2 0.300 None 1.000 2 2003 2008
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 67 3 0.310 None 1.000 1 2012 2012
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2012 2012
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.310 None 1.000 1 1 2012 2012
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 43 67 0.400 None 1.000 1 2 2012 2012
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 0
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.100 None 0
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 9 0.100 None 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 59 402 0.100 None 0
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.100 None 0