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.
Lymphoproliferative Disorder of the Skin
disease Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 75 4 0.010 None 1.000 1 2019 2019
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease
disease Skin and Connective Tissue Diseases Disease or Syndrome 114 12 0.020 None 1.000 2 2018 2019
CUI: C0035854
Disease: Rosacea
Rosacea
disease Skin and Connective Tissue Diseases Disease or Syndrome 41 2 0.010 None 1.000 1 2018 2018
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder
group Respiratory Tract Diseases Disease or Syndrome 227 14 0.030 None 1.000 3 2016 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2008 2008
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema
disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.010 None 1.000 1 1995 1995
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease
disease Respiratory Tract Diseases Disease or Syndrome 133 12 0.010 None 1.000 1 2019 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.010 None 1.000 1 2018 2018
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.010 None 1.000 1 2017 2017
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 2017 2017
Metastatic malignant neoplasm to brain
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Neoplastic Process 392 28 0.020 None 1.000 2 2018 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 0.978 46 1989 2020
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.100 None 0.933 15 1992 2019
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.100 None 1.000 10 2000 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 0.667 3 2007 2020
CUI: C0002793
Disease: Anaplasia
Anaplasia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.020 None 0.500 2 1996 2013
CUI: C0024232
Disease: Lymphatic Metastasis
Lymphatic Metastasis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 463 10 0.010 None 1.000 1 2016 2016
CUI: C1384494
Disease: Metastatic Carcinoma
Metastatic Carcinoma
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 57 2 0.010 None 1.000 1 1999 1999
CUI: C0023518
Disease: Leukocytosis
Leukocytosis
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.010 None 1.000 1 2019 2019
CUI: C0005683
Disease: Urinary Bladder Calculi (disorder)
Urinary Bladder Calculi (disorder)
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C0268074
Disease: Indian childhood cirrhosis
Indian childhood cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 67 6 0.010 None 1.000 1 2018 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.010 None 1.000 1 2019 2019
CUI: C0266526
Disease: Norrie disease
Norrie disease
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 55 28 0.010 None 1.000 1 1987 1987
Esophageal atresia with or without tracheoesophageal fistula
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 19 12 0.010 None 1.000 1 2017 2017
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2017 2017