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: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2020 2020
CUI: C0018834
Disease: Heartburn
Heartburn 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 139 5 0.010 None 1.000 1 2020 2020
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2020 2020
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.060 None 1.000 6 2019 2019
CUI: C0342488
Disease: Mineralocorticoid Excess Syndrome, Apparent
Mineralocorticoid Excess Syndrome, Apparent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.110 None 1.000 1 2019 2019
CUI: C0332909
Disease: Congenital unilateral absence
Congenital unilateral absence 		disease Congenital Abnormality 2 0.010 None 1.000 1 2019 2019
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2019 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2019 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2019 2019
CUI: C1608955
Disease: Mycobacterium abscessus Infection
Mycobacterium abscessus Infection 		disease Infections Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2019 2019
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.010 None 1.000 1 2019 2019
CUI: C1720830
Disease: Painful Bladder Syndrome
Painful Bladder Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 81 0.010 None 1.000 1 2019 2019
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 45 24 0.010 None 1.000 1 2019 2019
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION 		phenotype Disease or Syndrome 222 3 0.010 None 1.000 1 2019 2019
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.110 None 1.000 1 2019 2019
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 2 2019 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2019 2019
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 83 2 0.010 None 1.000 1 2019 2019
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.010 None 1.000 1 2019 2019
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2019 2019
CUI: C4524087
Disease: Bile acid diarrhea
Bile acid diarrhea 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 3 2 2018 2019
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.020 None 1.000 2 1 2018 2018