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: C0279746
Disease: Adenocarcinoma of salivary gland
Adenocarcinoma of salivary gland 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 10 0.010 None 1.000 1 2007 2007
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2008 2008
CUI: C0022790
Disease: Krukenberg Tumor
Krukenberg Tumor 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2011 2011
CUI: C3647143
Disease: Secondary malignant neoplasm of ovary
Secondary malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 17 2 0.010 None 1.000 1 2011 2011
CUI: C1301194
Disease: Salivary duct carcinoma
Salivary duct carcinoma 		disease Neoplasms Neoplastic Process 54 9 0.010 None 1.000 1 2005 2005
CUI: C0346402
Disease: Malignant neoplasm of adrenal cortex
Malignant neoplasm of adrenal cortex 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 60 1 0.010 None 1.000 1 2017 2017
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		disease Neoplastic Process 103 7 0.010 None 1.000 1 2014 2014
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 104 12 0.010 None 1.000 1 2014 2014
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma 		disease Neoplasms Neoplastic Process 151 1 0.010 None 1.000 1 2014 2014
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma 		disease Neoplasms Neoplastic Process 196 10 0.010 None 1.000 1 2005 2005
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 2005 2005
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 261 32 0.010 None 1.000 1 2004 2004
CUI: C1176475
Disease: Ductal Carcinoma
Ductal Carcinoma 		disease Neoplasms Neoplastic Process 273 11 0.010 None 1.000 1 2005 2005
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2017 2017
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.010 None 1.000 1 2003 2003
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.020 None 1.000 2 2012 2015
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2017 2017
CUI: C0024232
Disease: Lymphatic Metastasis
Lymphatic Metastasis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 463 10 0.010 None 1.000 1 2019 2019
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		group Neoplasms Neoplastic Process 471 18 0.010 None 1.000 1 2017 2017
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.020 None 1.000 2 2010 2017
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		disease Neoplasms Neoplastic Process 486 13 0.010 None 1.000 1 2007 2007
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.020 None 1.000 2 2010 2015
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.010 None 1.000 1 2019 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2018 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2017 2017