CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
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: C0030299
Disease: Pancreatic Pseudocyst
Pancreatic Pseudocyst
disease Digestive System Diseases; Neoplasms Disease or Syndrome 11 0.100 None 0
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones
disease Digestive System Diseases Disease or Syndrome 51 12 0.100 None 0
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis
disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.100 None 0
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.100 None 0
Recurrent Haemophilus influenzae infections
phenotype Finding 7 0.100 None 0
Abnormality of circulating enzyme level
phenotype Finding 6 1 0.100 None 0
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level
phenotype Finding 28 2 0.100 None 0
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 132 36 0.100 None 0 1
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 75 5 0.100 None 0
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
Acute bronchitis and bronchiolitis
disease Disease or Syndrome 1 2 0.100 None 0 2
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
disease Respiratory Tract Diseases Disease or Syndrome 3 38 0.600 strong 0 31
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.100 None 0 2
CUI: C0028961
Disease: Oliguria
Oliguria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 0.100 None 0
Autosomal Dominant Hereditary Pancreatitis
disease Digestive System Diseases Disease or Syndrome 6 6 0.300 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility
phenotype Finding 28 13 0.100 None 0
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.100 None 0 2
CUI: C4048750
Disease: Sphincter of Oddi Dyskinesia
Sphincter of Oddi Dyskinesia
disease Digestive System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1842406
Disease: Pancreatic calcification
Pancreatic calcification
phenotype Finding 7 0.100 None 0
CUI: C0023518
Disease: Leukocytosis
Leukocytosis
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.100 None 0
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression
phenotype Respiratory Tract Diseases Pathologic Function 24 5 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