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: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 330 71 0.020 None 1.000 2 1975 1977
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid 		disease Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome 35 16 0.010 None 1.000 1 1977 1977
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 56 45 0.010 None 1.000 1 1977 1977
CUI: C1263885
Disease: Neoplasm of cerebrum
Neoplasm of cerebrum 		disease Neoplasms; Nervous System Diseases Neoplastic Process 3 0.010 None 1.000 1 1978 1978
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 126 30 0.010 None 1.000 1 1984 1984
CUI: C0271994
Disease: Hereditary persistence of fetal hemoglobin thalassemia
Hereditary persistence of fetal hemoglobin thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 35 0.010 None 1.000 1 1987 1987
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 322 2 0.010 None 1.000 1 1993 1993
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase 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 Disease or Syndrome 9 25 0.010 None 1.000 1 1993 1993
CUI: C0085138
Disease: Choroid Plexus Neoplasms
Choroid Plexus Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 19 0.010 None 1.000 1 1993 1993
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.010 None 1.000 1 1993 1993
CUI: C0555232
Disease: pseudohermaphrodite (non-specific)
pseudohermaphrodite (non-specific) 		disease Disease or Syndrome 9 2 0.010 None 1.000 1 1993 1993
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 54 7 0.010 None 1.000 1 1993 1993
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 1994 1994
CUI: C0011226
Disease: Hepatitis D Infection
Hepatitis D Infection 		disease Digestive System Diseases; Infections Disease or Syndrome 72 4 0.010 None 1.000 1 1994 1994
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 8 0.010 None 1.000 1 1994 1994
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 1994 1994
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 37 0.010 None 1.000 1 1994 1994
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.020 None 1.000 2 1993 1995
CUI: C0024897
Disease: Mastocytoma
Mastocytoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 26 4 0.010 None 1.000 1 1996 1996
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 34 11 0.010 None 1.000 1 1996 1996
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 1996 1996
CUI: C3899649
Disease: Childhood Oligoastrocytoma
Childhood Oligoastrocytoma 		disease Neoplasms Neoplastic Process 23 3 0.010 None 1.000 1 1996 1996
CUI: C2242987
Disease: Benign Mastocytoma
Benign Mastocytoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 26 4 0.010 None 1.000 1 1996 1996
CUI: C0334664
Disease: Mast Cell Neoplasm
Mast Cell Neoplasm 		disease Neoplasms Neoplastic Process 33 4 0.010 None 1.000 1 1996 1996
CUI: C0023600
Disease: Leydig cell hyperplasia
Leydig cell hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 1996 1996