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: 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: C0024588
Disease: Malignant essential hypertension
Malignant essential hypertension 		disease Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 1998 1998
CUI: C0339402
Disease: Birdshot chorioretinitis
Birdshot chorioretinitis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C0553577
Disease: Post-tuberculous reactive arthritis
Post-tuberculous reactive arthritis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2010 2010
CUI: C0856835
Disease: Seronegative juvenile chronic arthritis
Seronegative juvenile chronic arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1989 1989
CUI: C3536738
Disease: Lumbar meningomyelocele
Lumbar meningomyelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.010 None < 0.001 1 1984 1984
CUI: C0271198
Disease: Scotoma, Arcuate
Scotoma, Arcuate 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 1 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: C4073109
Disease: Blind-spot enlargment
Blind-spot enlargment 		phenotype Finding 1 0.100 None 0
CUI: C0003510
Disease: Aortitis Syndrome
Aortitis Syndrome 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 1982 1982
CUI: C0014799
Disease: Erythroderma, Maculopapular
Erythroderma, Maculopapular 		disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.300 None 1.000 1 2006 2006
CUI: C0030437
Disease: Parakeratosis Variegata
Parakeratosis Variegata 		disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.300 None 1.000 1 2006 2006
CUI: C1333430
Disease: EBV-Related Hodgkin Lymphoma
EBV-Related Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C1869024
Disease: Severe cutaneous adverse reactions (SMQ)
Severe cutaneous adverse reactions (SMQ) 		phenotype Classification 2 2 0.100 None 1.000 1 1 2019 2019
CUI: C0014040
Disease: Encephalitis Lethargica
Encephalitis Lethargica 		disease Infections; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1982 1982
CUI: C0202100
Disease: Insulin C-peptide measurement
Insulin C-peptide measurement 		phenotype Laboratory Procedure 3 7 0.100 None 1.000 1 1 2018 2018
CUI: C0241913
Disease: Halothane Hepatitis
Halothane Hepatitis 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 3 0.010 None 1.000 1 1985 1985
CUI: C0451840
Disease: Erosive osteoarthrosis
Erosive osteoarthrosis 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 1989 1989
CUI: C4727078
Disease: Advanced Synovial Sarcoma
Advanced Synovial Sarcoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C4073079
Disease: Photoreceptor layer loss on macular OCT
Photoreceptor layer loss on macular OCT 		phenotype Finding 3 0.100 None 0
CUI: C0339403
Disease: Presumed ocular histoplasmosis syndrome
Presumed ocular histoplasmosis syndrome 		disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2003 2003
CUI: C1405301
Disease: Poliomyelitis, paralytic
Poliomyelitis, paralytic 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 1979 1979
CUI: C2004491
Disease: Cicatrix
Cicatrix 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 4 2 0.100 None 1.000 1 1 2019 2019
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		phenotype Finding 4 1 0.100 None 0
CUI: C0423428
Disease: Scarred macula
Scarred macula 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 4 0.100 None 0