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: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
phenotype Finding 175 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: 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: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 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
CUI: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain
phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 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: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones
disease Digestive System Diseases Disease or Syndrome 51 12 0.100 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
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
disease Finding 1 1 0.100 None 0 1
CUI: C0740266
Disease: Anal and rectal conditions
Anal and rectal conditions
disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0546884
Disease: Hypovolemia
Hypovolemia
phenotype Pathological Conditions, Signs and Symptoms Finding 37 3 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
CUI: C0008031
Disease: Chest Pain
Chest Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0
PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF
phenotype Finding 1 2 0.100 None 0 2
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C3686778
Disease: Biliary hyperplasia
Biliary hyperplasia
disease Disease or Syndrome 6 0.100 None 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
Pathological accumulation of air in tissues
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 69 6 0.100 None 0
HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
Increased circulating gonadotropin level
phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C1856646
Disease: Elevated sweat chloride
Elevated sweat chloride
phenotype Finding 4 0.100 None 0