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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 17 1993 2018
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 		disease Disease or Syndrome 34 3 0.100 None 1.000 11 1993 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.070 None 1.000 7 1990 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.060 None 0.833 6 1998 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.060 None 0.833 6 2002 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.060 None 0.833 6 1998 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.060 None 0.833 6 2002 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.050 None 1.000 5 2001 2009
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.050 None 1.000 5 1990 2018
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 61 18 0.050 None 1.000 5 1991 2010
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 431 2 0.040 None 0.750 4 1986 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome 		disease Endocrine System Diseases Disease or Syndrome 120 9 0.040 None 1.000 4 2000 2009
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		disease Endocrine System Diseases Disease or Syndrome 126 9 0.040 None 1.000 4 2000 2009
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 64 24 0.030 None 1.000 3 2002 2017
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.030 None 1.000 3 1997 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 0.030 None 1.000 3 1997 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.030 None 1.000 3 1997 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.020 None 1.000 2 2005 2013
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 770 91 0.020 None 1.000 2 1997 2002
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		disease Skin and Connective Tissue Diseases Disease or Syndrome 121 8 0.020 None 1.000 2 2004 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.020 None 1.000 2 2008 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.020 None 1.000 2 1997 2002
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.020 None 1.000 2 2008 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.020 None 1.000 2 1997 2002
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.020 None 1.000 2 2018 2019