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.
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 14 7 0.500 0
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
disease Disease or Syndrome 3 1 0.400 2 1 2002 2013
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 499 5 0.300 1 2016 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1868 225 0.230 1.000 4 2011 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1832 1878 0.210 2 2002 2007
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 190 0.200 1 2010 2010
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma
disease Neoplastic Process 96 0.200 1 2013 2013
Other specified transient cerebral ischemias
disease Disease or Syndrome 154 0.200 1 2010 2010
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 414 99 0.110 1.000 1 2016 2016
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplastic Process 2475 735 0.100 1.000 11 1996 2016
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplastic Process 2267 400 0.100 1.000 10 1996 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.100 1.000 10 1996 2016
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 227 0.100 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 371 46 0.100 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
phenotype Finding 70 0.100 0
Creatine phosphokinase serum increased
phenotype Finding 158 16 0.100 0
CUI: C0231712
Disease: Waddling gait
Waddling gait
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 58 2 0.100 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.100 0
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration
disease Disease or Syndrome 258 3 0.100 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Finding 43 0.100 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy
phenotype Cell or Molecular Dysfunction 3 0.100 0
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 144 94 0.100 0
Ubiquitin-positive cerebral inclusion bodies
phenotype Laboratory or Test Result 3 0.100 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
phenotype Anatomical Abnormality 87 5 0.100 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
phenotype Pathologic Function 41 5 0.100 0