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: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 3 0.700 moderate 1.000 4 3 1992 2016
CUI: C4751232
Disease: Rare isolated myopia
Rare isolated myopia
disease Disease or Syndrome 1 1 0.100 None 1.000 3 1 2013 2016
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 2003 2003
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
disease Digestive System Diseases Disease or Syndrome 252 90 0.020 None 0.500 2 2006 2008
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.020 None 1.000 2 2018 2019
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 197 33 0.200 None 1.000 2 1995 1995
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.110 None 1.000 2 1 2002 2011
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.120 None 1.000 2 2013 2014
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.020 None 1.000 2 2000 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None < 0.001 1 2016 2016
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2014 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.010 None 1.000 1 2000 2000
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
disease Neoplasms Neoplastic Process 623 12 0.010 None 1.000 1 1988 1988
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2002 2002
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.010 None 1.000 1 2020 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2008 2008
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2018 2018
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.010 None 1.000 1 2017 2017
Gerstmann-Straussler-Scheinker Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.010 None 1.000 1 2006 2006
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None < 0.001 1 2007 2007
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.010 None 1.000 1 2017 2017
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.010 None 1.000 1 1992 1992
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 1986 1986
CUI: C0026277
Disease: Mixed Salivary Gland Tumor
Mixed Salivary Gland Tumor
disease Neoplasms Neoplastic Process 185 3 0.010 None < 0.001 1 1990 1990
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.310 None 1.000 1 2013 2013