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: C0233746
Disease: Perceptual disturbance
Perceptual disturbance 		disease Mental Disorders Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2007 2007
CUI: C0021151
Disease: Incipient Schizophrenia
Incipient Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2007 2007
CUI: C0730315
Disease: Acute central serous chorioretinopathy
Acute central serous chorioretinopathy 		disease Infections; Eye Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 2019 2019
CUI: C0240805
Disease: Prodrome
Prodrome 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2004 2004
CUI: C1846006
Disease: Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal dysplasia, hypohidrotic, with immune deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 10 13 0.010 None 1.000 1 2008 2008
CUI: C0085923
Disease: soft neurological signs
soft neurological signs 		phenotype Sign or Symptom 15 1 0.010 None 1.000 1 2007 2007
CUI: C3494358
Disease: Prodromal Symptoms
Prodromal Symptoms 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 15 4 0.010 None 1.000 1 2004 2004
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2007 2007
CUI: C0270496
Disease: Schizoaffective disorder, bipolar type
Schizoaffective disorder, bipolar type 		disease Mental Disorders Mental or Behavioral Dysfunction 17 10 0.010 None 1.000 1 2007 2007
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 19 9 0.010 None 1.000 1 2017 2017
CUI: C0036363
Disease: Schizotypal Personality Disorder
Schizotypal Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 23 9 0.020 None 1.000 2 2000 2002
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 25 8 0.010 None 1.000 1 2 2009 2009
CUI: C0279084
Disease: Kaposi's sarcoma classical type
Kaposi's sarcoma classical type 		disease Neoplasms; Infections Neoplastic Process 26 3 0.010 None 1.000 1 2019 2019
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 29 14 0.020 None 1.000 2 2007 2009
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 36 11 0.010 None 1.000 1 2004 2004
CUI: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		disease Neoplastic Process 39 2 0.010 None 1.000 1 2017 2017
CUI: C1336745
Disease: Thymic Lymphoma
Thymic Lymphoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 45 0.010 None 1.000 1 2002 2002
CUI: C0001969
Disease: Alcoholic Intoxication
Alcoholic Intoxication 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 52 4 0.010 None 1.000 1 2007 2007
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		disease Musculoskeletal Diseases Disease or Syndrome 58 17 0.010 None 1.000 1 2003 2003
CUI: C0917996
Disease: Cerebral Aneurysm
Cerebral Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2007 2007
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 67 5 0.010 None 1.000 1 2018 2018
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer 		disease Neoplastic Process 71 3 0.010 None 1.000 1 2018 2018
CUI: C0333873
Disease: Squamous intraepithelial lesion
Squamous intraepithelial lesion 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 73 8 0.010 None 1.000 1 2009 2009
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.010 None 1.000 1 2004 2004
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 19 0.010 None 1.000 1 2004 2004