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: 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 2003 2003
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.010 None 1.000 1 2007 2007
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2010 2010
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2010 2010
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 2010 2010
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.010 None 1.000 1 2010 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2010 2010
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2010 2010
Meningioma, benign, no ICD-O subtype
disease Neoplasms; Nervous System Diseases Neoplastic Process 404 30 0.010 None 1.000 1 2010 2010
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder
group Pathological Conditions, Signs and Symptoms Disease or Syndrome 391 8 0.010 None 1.000 1 2012 2012
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 296 9 0.010 None 1.000 1 2013 2013
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 466 19 0.010 None 1.000 1 2013 2013
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.010 None 1.000 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2013 2013
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.010 None 1.000 1 2013 2013
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.020 None 1.000 2 2014 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2015 2015
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2015 2015
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.010 None 1.000 1 2017 2017
CUI: C1536148
Disease: Chocolate cyst of ovary
Chocolate cyst of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 50 4 0.010 None 1.000 1 2017 2017
CUI: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.010 None 1.000 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.020 None 1.000 2 2012 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.020 None 1.000 2 2018 2019