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: C0343386
Disease: Clostridium difficile infection
Clostridium difficile infection 		disease Infections Disease or Syndrome 53 1 0.010 None 1.000 1 2020 2020
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1409 62 0.020 None 1.000 2 2019 2019
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26 0.010 None 1.000 1 2019 2019
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		disease Neoplastic Process 160 18 0.010 None 1.000 1 2019 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2089 290 0.010 None 1.000 1 2019 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 48 11 0.010 None 1.000 1 2019 2019
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 959 16 0.010 None 1.000 1 2019 2019
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 21 0.010 None 1.000 1 2019 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2055 278 0.010 None 1.000 1 2019 2019
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2063 289 0.010 None 1.000 1 2019 2019
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 15 0.010 None 1.000 1 2019 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3131 968 0.010 None 1.000 1 2019 2019
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 393 26 0.010 None 1.000 1 2019 2019
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 215 16 0.010 None 1.000 1 2019 2019
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1144 24 0.010 None 1.000 1 2019 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 558 1 0.010 None 1.000 1 2019 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 759 233 0.010 None 1.000 1 2019 2019
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 855 24 0.010 None 1.000 1 2018 2018
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 20 4 0.010 None 1.000 1 2018 2018
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 124 27 0.010 None 1.000 1 2018 2018
CUI: C0852384
Disease: Visual impairment and blindness (excl colour blindness)
Visual impairment and blindness (excl colour blindness) 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 665 21 0.010 None 1.000 1 2018 2018
CUI: C4722099
Disease: High grade glioma
High grade glioma 		disease Neoplasms Neoplastic Process 190 15 0.010 None 1.000 1 2018 2018
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		disease Disease or Syndrome 54 2 0.010 None 1.000 1 2018 2018
CUI: C1850765
Disease: Visual auras
Visual auras 		disease Nervous System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2018 2018