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: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 4 0.100 None 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		phenotype Finding 14 0.100 None 0
CUI: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 2 3 0.300 limited 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0042131
Disease: Uterine Diseases
Uterine Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 10 1 0.010 None < 0.001 1 2012 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.060 None 1.000 6 2003 2020
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.050 None 1.000 5 2003 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 2004 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.040 None 1.000 4 2004 2019
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.030 None 1.000 3 2014 2019
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.030 None 1.000 3 2014 2019
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.030 None 1.000 3 2014 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2014 2016
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.020 None 1.000 2 2004 2016
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.310 None 1.000 2 2011 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 1 2004 2009
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.020 None 1.000 2 2012 2018
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 3 6 0.020 None 1.000 2 1998 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 1 2004 2009
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.020 None 1.000 2 2006 2017
CUI: C3658266
Disease: Prostatic Cancer, Castration-Resistant
Prostatic Cancer, Castration-Resistant 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 12 0.010 None 1.000 1 2010 2010
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.300 None 1.000 1 2011 2011
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.010 None 1.000 1 2010 2010
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.400 None 1.000 1 2015 2015
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2019 2019