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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 593 489 0.520 1.000 2 2012 2016
CUI: C0854135
Disease: Pseudomonas aeruginosa infection
Pseudomonas aeruginosa infection
disease Bacterial Infections and Mycoses Disease or Syndrome 27 1 0.310 1.000 1 2012 2012
CUI: C0033817
Disease: Pseudomonas Infections
Pseudomonas Infections
group Bacterial Infections and Mycoses Disease or Syndrome 10 1 0.300 1 2012 2012
CUI: C0392164
Disease: Pulmonary Cystic Fibrosis
Pulmonary Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 42 0.300 1 2012 2012
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 7 0.300 1 2012 2012
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 78 48 0.100 0.818 11 2003 2014
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 659 259 0.100 1.000 10 1 2012 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.100 1 1 2017 2017
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 51 0.100 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 640 10 0.100 0
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
disease Digestive System Diseases Disease or Syndrome 154 560 0.100 0
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
disease Digestive System Diseases Disease or Syndrome 328 108 0.100 0
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency
disease Disease or Syndrome 29 6 0.100 0
CUI: C3714745
Disease: Malabsorption
Malabsorption
phenotype Finding 107 0.100 0
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 431 13 0.100 0
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease Digestive System Diseases Disease or Syndrome 35 7 0.100 0
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
disease Hemic and Lymphatic Diseases; Immune System Diseases Disease or Syndrome 84 1 0.100 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Finding 212 0.100 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.050 0.800 5 2007 2017
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
disease Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases Mental or Behavioral Dysfunction 97 37 0.050 1.000 5 2012 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.050 1.000 5 1999 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.050 1.000 5 2009 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.040 0.750 4 2003 2016
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.030 1.000 3 1990 2014
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia
disease Disease or Syndrome 65 12 0.030 1.000 3 2012 2017