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.
CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 1 15 0.800 8 15 1993 2015
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 110 67 0.570 1.000 7 2002 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 912 760 0.400 2 1 2009 2011
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 215 48 0.300 1 2009 2009
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 109 1 0.300 1 2008 2008
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias
group Nutritional and Metabolic Diseases Pathologic Function 19 0.300 1 2009 2009
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 38 1 0.300 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 180 1 0.300 strong 0
CUI: C0265747
Disease: Congenital atresia of nasopharynx
Congenital atresia of nasopharynx
disease Congenital Abnormality 10 0.200 1 1999 1999
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 49 2 0.200 1 2010 2010
Other specified congenital malformations of respiratory system
disease Congenital Abnormality 10 0.200 1 1999 1999
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
disease Disease or Syndrome 30 4 0.200 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 30 12 0.200 0
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
disease Disease or Syndrome 29 2 0.200 0
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
disease Disease or Syndrome 30 9 0.200 0
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.200 0
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
disease Disease or Syndrome 30 2 0.200 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 63 190 0.140 1.000 9 26 2002 2017
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 111 2 0.110 1.000 1 2012 2012
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 282 676 0.100 5 2 2009 2017
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 306 814 0.100 5 2 2009 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1311 784 0.100 4 38 2012 2016
CUI: C1136085
Disease: Monoclonal Gammapathies
Monoclonal Gammapathies
group Hemic and Lymphatic Diseases; Immune System Diseases Neoplastic Process 43 8 0.100 1 1 2016 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.100 1 1 2013 2013
Interleukin 1 Receptor Antagonist Measurement
phenotype Laboratory Procedure 5 8 0.100 1 1 2017 2017