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: C0861353
Disease: Noninvasive ductal carcinoma
Noninvasive ductal carcinoma 		disease Neoplastic Process 8 0.010 None 1.000 1 2003 2003
CUI: C1332460
Disease: Barrett's Adenocarcinoma
Barrett's Adenocarcinoma 		disease Neoplastic Process 31 0.010 None 1.000 1 2004 2004
CUI: C4283978
Disease: Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus 		disease Neoplastic Process 31 0.010 None 1.000 1 2004 2004
CUI: C1334015
Disease: High Grade Intraepithelial Neoplasia
High Grade Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 38 0.010 None 1.000 1 2004 2004
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 62 0.010 None 1.000 1 1995 1995
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26 0.010 None 1.000 1 1995 1995
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.010 None 1.000 1 1995 1995
CUI: C0346976
Disease: Secondary malignant neoplasm of pancreas
Secondary malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 69 4 0.010 None 1.000 1 2006 2006
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.010 None 1.000 1 1995 1995
CUI: C0272138
Disease: Erythroblastosis
Erythroblastosis 		disease Disease or Syndrome 89 0.010 None 1.000 1 2017 2017
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell 		disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2011 2011
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform 		disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2011 2011
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		disease Digestive System Diseases Disease or Syndrome 122 34 0.010 None 1.000 1 1995 1995
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 123 0.300 None 1.000 1 2011 2011
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		disease Neoplasms Neoplastic Process 133 3 0.300 None 1.000 1 2011 2011
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 134 0.300 None 1.000 1 2013 2013
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		disease Neoplasms Neoplastic Process 135 0.300 None 1.000 1 2011 2011
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 1.000 1 2013 2013
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.020 None 1.000 2 2011 2017
CUI: C1334274
Disease: Invasive Carcinoma
Invasive Carcinoma 		phenotype Neoplasms Neoplastic Process 173 1 0.010 None 1.000 1 2004 2004
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 185 2 0.300 None 1.000 1 2013 2013
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 208 93 0.010 None 1.000 1 2004 2004
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 223 3 0.300 None 1.000 1 2013 2013
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.010 None 1.000 1 1992 1992
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2004 2004