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: 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
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: 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: 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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease Disease or Syndrome 55 28 0.010 None 1.000 1 1995 1995
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: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 1998 1998
CUI: C0861353
Disease: Noninvasive ductal carcinoma
Noninvasive ductal carcinoma
disease Neoplastic Process 8 0.010 None 1.000 1 2003 2003
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.030 None 1.000 3 1997 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.030 None 0.667 3 1997 2004
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.030 None 1.000 3 2003 2004
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.020 None 1.000 2 2003 2004
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1254 270 0.020 None 1.000 2 1998 2004
CUI: C1334274
Disease: Invasive Carcinoma
Invasive Carcinoma
phenotype Neoplasms Neoplastic Process 173 1 0.010 None 1.000 1 2004 2004
High Grade Intraepithelial Neoplasia
disease Neoplasms Neoplastic Process 38 0.010 None 1.000 1 2004 2004
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: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2004 2004
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2004 2004
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplasms Neoplastic Process 1145 24 0.010 None 1.000 1 2004 2004
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus
disease Neoplastic Process 31 0.010 None 1.000 1 2004 2004
CUI: C1332460
Disease: Barrett's Adenocarcinoma
Barrett's Adenocarcinoma
disease Neoplastic Process 31 0.010 None 1.000 1 2004 2004
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.010 None 1.000 1 2004 2004
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
disease Digestive System Diseases; Neoplasms Disease or Syndrome 478 60 0.010 None 1.000 1 2004 2004
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2006 2006
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