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: 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 1
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: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 9 0.100 None 0
CUI: C0004144
Disease: Atelectasis
Atelectasis 		phenotype Respiratory Tract Diseases Pathologic Function 62 2 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
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 0
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.100 None 0
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 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: C0018995
Disease: Hemochromatosis
Hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 93 45 0.010 None 1.000 1 2004 2004
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 62 0.010 None 1.000 1 2004 2004
CUI: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 77 3 0.010 None 1.000 1 2004 2004
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243 0.010 None 1.000 1 2012 2012
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.010 None 1.000 1 2013 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 2014 2014
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: 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 2014 2014
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 3 2014 2014
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.060 None 1.000 6 2017 2017
CUI: C0234507
Disease: Anosognosia
Anosognosia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2017 2017
CUI: C0338908
Disease: Mixed anxiety and depressive disorder
Mixed anxiety and depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 146 13 0.010 None 1.000 1 2017 2017
CUI: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
Ovalocytosis, Malaysian-Melanesian-Filipino Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 9 5 0.010 None 1.000 1 2017 2017
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None 1.000 1 2017 2017