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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.110 None 1.000 2 1 2014 2015
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 2 2018 2018
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 2 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 1.000 1 1 2019 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.100 None 1.000 1 1 2019 2019
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 180 45 0.100 None 1.000 1 1 2019 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.100 None 1.000 1 1 2013 2013
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
disease Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 370 195 0.100 None 1.000 1 1 2009 2009
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.100 None 1.000 1 1 2017 2017
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 3 0.020 None 0.500 2 2004 2005
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2014 2014
Chromosome 6pter-P24 Deletion Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2017 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2017 2017
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 1 2017 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 1 2014 2014
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2014 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2014 2014
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2017 2017