CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Source: BEFREE ×
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: C4554215
Disease: Duchenne or Becker muscular dystrophy
Duchenne or Becker muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 1990 1990
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 17 0.010 None 1.000 1 1992 1992
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		disease Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 1993 1993
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1993 1993
CUI: C0860006
Disease: Hypotonic dehydration
Hypotonic dehydration 		disease Disease or Syndrome 1 0.010 None 1.000 1 1995 1995
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 76 9 0.010 None 1.000 1 1995 1995
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1020 39 0.010 None 1.000 1 1995 1995
CUI: C0002793
Disease: Anaplasia
Anaplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.010 None < 0.001 1 1995 1995
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 416 2 0.010 None 1.000 1 1995 1995
CUI: C0086942
Disease: Rous Sarcoma
Rous Sarcoma 		disease Neoplasms; Infections; Animal Diseases Neoplastic Process; Experimental Model of Disease 60 0.010 None 1.000 1 1996 1996
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 66 24 0.010 None 1.000 1 1997 1997
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 56 12 0.010 None 1.000 1 1997 1997
CUI: C4546414
Disease: Left renal agenesis
Left renal agenesis 		disease Congenital Abnormality 1 0.010 None 1.000 1 1997 1997
CUI: C0340037
Disease: Young Syndrome
Young Syndrome 		disease Infections; Male Urogenital Diseases; Respiratory Tract Diseases Disease or Syndrome 1 0.020 None 0.500 2 1996 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2140 78 0.020 None 1.000 2 1996 1998
CUI: C0015403
Disease: Eye Infection
Eye Infection 		group Infections; Eye Diseases Disease or Syndrome 24 0.010 None 1.000 1 1999 1999
CUI: C0008311
Disease: Cholangitis
Cholangitis 		disease Digestive System Diseases Disease or Syndrome 61 1 0.010 None 1.000 1 1999 1999
CUI: C2347126
Disease: Microscopic Polyarteritis
Microscopic Polyarteritis 		disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 77 7 0.010 None 1.000 1 1999 1999
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma 		disease Neoplasms Neoplastic Process 148 6 0.010 None 1.000 1 1999 1999
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease Neoplasms Neoplastic Process 361 17 0.010 None 1.000 1 1999 1999
CUI: C1384582
Disease: Primary testicular failure
Primary testicular failure 		disease Endocrine System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2000 2000
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 21 0.010 None 1.000 1 2000 2000
CUI: C0346648
Disease: Malignant tumor of exocrine pancreas
Malignant tumor of exocrine pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 9 0.010 None 1.000 1 2001 2001
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 174 11 0.010 None 1.000 1 2001 2001
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.010 None 1.000 1 2002 2002