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: C0432292
Disease: Familial expansile osteolysis
Familial expansile osteolysis
disease Musculoskeletal Diseases Congenital Abnormality 5 2 0.800 strong 1.000 16 2 2000 2018
Osteopetrosis, Autosomal Recessive 7
disease Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 5 0.720 strong 1.000 3 5 2008 2019
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 134 58 0.600 limited 1.000 23 2 2000 2019
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.450 moderate 1.000 5 2001 2014
PAGET DISEASE OF BONE 2, EARLY-ONSET
disease Disease or Syndrome 2 4 0.420 strong 1.000 2 3 2006 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.360 limited 1.000 6 2001 2018
Hyperphosphatasemia with bone disease
disease Musculoskeletal Diseases Disease or Syndrome 8 4 0.340 None 1.000 4 2002 2016
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.330 None 1.000 3 2006 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.200 None 1.000 25 2004 2019
CUI: C0027059
Disease: Myocarditis
Myocarditis
disease Cardiovascular Diseases Disease or Syndrome 285 2 0.200 None 1.000 1 2008 2008
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.110 None 1.000 3 1 2019 2019
CUI: C0151825
Disease: Bone pain
Bone pain
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.110 None 1.000 1 2011 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None 1.000 1 2 2015 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 1.000 31 1 2006 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 1.000 30 1 2006 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 28 1 2003 2019
Secondary malignant neoplasm of bone
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process 647 18 0.100 None 1.000 18 3 2008 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 1.000 17 2010 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 17 2002 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 0.867 15 2 2001 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 15 2002 2019
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 1.000 12 2013 2019
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 4 1 2009 2018
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.100 None 1.000 2 1 2019 2019
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.100 None 1.000 2 2 2015 2016