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: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.100 None 0.990 102 2002 2019
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 178 18 0.500 None 0.972 72 2 1994 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.100 None 0.970 67 2 1994 2019
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.700 None 0.972 36 6 1997 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.200 None 0.963 27 1 1998 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.917 24 2006 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.957 23 1998 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 1.000 18 2010 2020
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		disease Endocrine System Diseases Disease or Syndrome 52 5 0.100 None 1.000 18 1998 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.100 None 1.000 16 2016 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.100 None 1.000 16 1998 2020
CUI: C3887896
Disease: Primary Adrenal Insufficiency
Primary Adrenal Insufficiency 		disease Disease or Syndrome 27 2 0.100 None 1.000 14 1998 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.923 13 2010 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.923 13 2010 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.090 None 1.000 9 2010 2019
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 305 24 0.370 None 1.000 8 1994 2017
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.070 None 0.857 7 1998 2018
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		disease Neoplasms Neoplastic Process 517 25 0.070 None 1.000 7 2006 2014
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.060 None 1.000 6 2015 2019
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 1.000 6 2004 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.060 None 1.000 6 2004 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.060 None 1.000 6 2015 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.060 None 1.000 6 2015 2020
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.050 None 1.000 5 1998 2006
CUI: C0795887
Disease: Complex Glycerol Kinase Deficiency
Complex Glycerol Kinase Deficiency 		disease Endocrine System Diseases Disease or Syndrome 3 0.330 None 1.000 5 1994 2018