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: C4015016
Disease: CILIARY DYSKINESIA, PRIMARY, 30
CILIARY DYSKINESIA, PRIMARY, 30 		disease Disease or Syndrome 1 6 0.800 None 1.000 3 6 2014 2019
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 0.540 None 1.000 4 2014 2019
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 2 2 2014 2014
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 0.340 None 1.000 4 1 2014 2019
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 2014 2014
CUI: C0478019
Disease: Other specified congenital malformations of respiratory system
Other specified congenital malformations of respiratory system 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 13 0.200 None 1.000 1 2019 2019
CUI: C0265747
Disease: Congenital atresia of nasopharynx
Congenital atresia of nasopharynx 		disease Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 13 0.200 None 1.000 1 2019 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.110 None 1.000 1 2019 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 7 1 1994 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 7 1 1994 2014
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 164 17 0.100 None 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C4703436
Disease: Impaired nasal mucociliary clearance
Impaired nasal mucociliary clearance 		phenotype Finding 41 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: C4022989
Disease: Absent outer dynein arms
Absent outer dynein arms 		phenotype Finding 6 0.100 None 0
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 120 11 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C3552099
Disease: Respiratory insufficiency due to defective ciliary clearance
Respiratory insufficiency due to defective ciliary clearance 		phenotype Respiratory Tract Diseases Finding 10 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C1855672
Disease: Immotile cilia
Immotile cilia 		phenotype Finding 41 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0