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.
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality
phenotype Finding 74 1 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.100 None 0
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 96 19 0.100 None 0 1
CUI: C0039070
Disease: Syncope
Syncope
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.100 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 0
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 3 0.100 None 0
CUI: C0520887
Disease: ST segment depression (finding)
ST segment depression (finding)
phenotype Cardiovascular Diseases Finding 3 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
CUI: C0008031
Disease: Chest Pain
Chest Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.010 None 1.000 1 1996 1996
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 1997 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 1997 1997
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 1997 1999
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 1997 1999
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 83 47 0.300 None 1.000 1 2004 2004
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2004 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 1997 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2005 2005
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2005 2005
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2005 2005