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: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.630 None 1.000 6 1973 2013
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: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.400 None 1.000 2 2003 2008
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: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus
disease Nervous System Diseases Congenital Abnormality 39 0.320 None 1.000 4 2003 2013
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: 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: C2936718
Disease: Fetal Cerebral Ventriculomegaly
Fetal Cerebral Ventriculomegaly
disease Nervous System Diseases Congenital Abnormality 7 0.300 None 1.000 2 2003 2008
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: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 18 1 0.300 None 1.000 2 2003 2008
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: 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: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2011 2011
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2019 2019
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
disease Male Urogenital Diseases Disease or Syndrome 164 17 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
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 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: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive
group Respiratory Tract Diseases Disease or Syndrome 104 4 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
Respiratory failure requiring assisted ventilation
phenotype Respiratory Tract Diseases Finding 9 1 0.100 None 0 1