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: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.010 None 1.000 1 2008 2008
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.010 None < 0.001 1 2015 2015
CUI: C1704328
Disease: Osteoblastic Osteosarcoma
Osteoblastic Osteosarcoma
disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2018 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 3 2015 2015
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.010 None 1.000 1 2003 2003
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases
group Stomatognathic Diseases Disease or Syndrome 326 22 0.010 None 1.000 1 2006 2006
CUI: C0033300
Disease: Progeria
Progeria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.010 None 1.000 1 2019 2019
CUI: C0033802
Disease: Pseudogout
Pseudogout
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 15 5 0.010 None 1.000 1 2007 2007
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 57 323 0.010 None 1.000 1 1 2019 2019
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.010 None 1.000 1 2005 2005
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
disease Musculoskeletal Diseases Disease or Syndrome 164 121 0.010 None 1.000 1 2012 2012
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2004 2004
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2018 2018
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 21 0.010 None 1.000 1 2019 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2017 2017
CUI: C1704330
Disease: Dental Diseases
Dental Diseases
group Stomatognathic Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2018 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2017 2017
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 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 2019 2019
CUI: C0034068
Disease: Pulmonary Eosinophilia
Pulmonary Eosinophilia
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 1 0.010 None 1.000 1 2014 2014
CUI: C0036117
Disease: Salmonella infections
Salmonella infections
group Infections Disease or Syndrome 96 0.010 None 1.000 1 2017 2017
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 3 2015 2015
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C0543918
Disease: SCHIZOPHRENIA 10
SCHIZOPHRENIA 10
disease Mental or Behavioral Dysfunction 10 1 0.010 None 1.000 1 2018 2018
CUI: C0266039
Disease: Taurodontism
Taurodontism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.010 None 1.000 1 2007 2007