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: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.100 None 1.000 23 1997 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.070 None 1.000 7 2004 2008
CUI: C0037284
Disease: Skin lesion
Skin lesion
group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.040 None 1.000 4 2003 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.340 None 1.000 4 2001 2008
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.040 None 0.750 4 2000 2017
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.330 None 1.000 4 1997 2007
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.030 None 1.000 3 2014 2019
Secondary malignant neoplasm of colon and/or rectum
disease Digestive System Diseases; Neoplasms Neoplastic Process 397 68 0.030 None 1.000 3 2007 2016
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
disease Eye Diseases Disease or Syndrome 69 15 0.030 None 1.000 3 2007 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.030 None 1.000 3 2013 2020
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 8 0.020 None 1.000 2 1996 2018
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
group Neoplasms Neoplastic Process 699 32 0.020 None 1.000 2 2006 2016
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5 0.020 None 1.000 2 2011 2017
CUI: C0033300
Disease: Progeria
Progeria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.020 None 1.000 2 2006 2006
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer
disease Neoplastic Process 59 9 0.020 None 1.000 2 2010 2012
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 371 44 0.020 None 1.000 2 2008 2012
CUI: C0333873
Disease: Squamous intraepithelial lesion
Squamous intraepithelial lesion
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 73 8 0.020 None 1.000 2 2013 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.020 None 1.000 2 2010 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.020 None 1.000 2 2007 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 2007 2017
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.020 None 1.000 2 2007 2015
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.020 None 1.000 2 2007 2008
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
group Neoplasms Neoplastic Process 471 18 0.020 None 1.000 2 2003 2007
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.310 None 1.000 2 1998 2007
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.120 None 1.000 2 2015 2015