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: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype Finding 26 0.100 None 0
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.100 None 0
CUI: C3277286
Disease: HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO
HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0002892
Disease: Anemia, Pernicious
Anemia, Pernicious 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 16 4 0.010 None < 0.001 1 1977 1977
CUI: C0574960
Disease: Sacroiliitis
Sacroiliitis 		disease Musculoskeletal Diseases Disease or Syndrome 33 2 0.010 None 1.000 1 1978 1978
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 1978 1978
CUI: C4050407
Disease: Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 15 0.010 None 1.000 1 1978 1978
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 1978 1978
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.010 None 1.000 1 1978 1978
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis 		disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 126 18 0.010 None 1.000 1 1978 1978
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		disease Disease or Syndrome 11 4 0.010 None 1.000 1 1979 1979
CUI: C1405301
Disease: Poliomyelitis, paralytic
Poliomyelitis, paralytic 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 1979 1979
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 61 3 0.010 None 1.000 1 1979 1979
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None < 0.001 1 1979 1979
CUI: C0036631
Disease: Seminoma
Seminoma 		disease Neoplasms Neoplastic Process 311 12 0.010 None 1.000 1 1979 1979
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 1979 1979
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None < 0.001 1 1979 1979
CUI: C0006915
Disease: Caplan Syndrome
Caplan Syndrome 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 1 0.010 None 1.000 1 1979 1979
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		disease Cardiovascular Diseases Disease or Syndrome 127 16 0.010 None 1.000 1 1979 1979
CUI: C0032273
Disease: Pneumoconiosis
Pneumoconiosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 1979 1979
CUI: C0017677
Disease: Glossitis, Benign Migratory
Glossitis, Benign Migratory 		disease Stomatognathic Diseases Disease or Syndrome 53 1 0.010 None 1.000 1 1980 1980
CUI: C0154307
Disease: Banti's syndrome
Banti's syndrome 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 1980 1980
CUI: C0008489
Disease: Chorea
Chorea 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.010 None 1.000 1 1980 1980
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.030 None 1.000 3 1979 1981
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 379 56 0.010 None 1.000 1 1981 1981