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.
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
disease Disease or Syndrome 1 1 0.600 strong 1.000 1 1 2018 2018
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
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
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: C0151970
Disease: Ulcer of esophagus
Ulcer of esophagus
disease Digestive System Diseases Disease or Syndrome 13 0.100 None 0
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: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures
phenotype Finding 15 1 0.100 None 0
CUI: C1832338
Disease: Axonal loss
Axonal loss
phenotype Finding 16 0.100 None 0
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
Schizoaffective disorder, bipolar type
disease Mental Disorders Mental or Behavioral Dysfunction 17 10 0.010 None 1.000 1 2007 2007
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 17 12 0.100 None 0
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 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 0.010 None 1.000 1 2007 2007
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
Activated B-cell type diffuse large B-cell lymphoma
disease Neoplastic Process 39 2 0.010 None 1.000 1 2017 2017
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.300 strong 1.000 1 2018 2018
Increased variability in muscle fiber diameter
phenotype Finding 50 4 0.100 None 0
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: C1258085
Disease: Barrett Epithelium
Barrett Epithelium
disease Digestive System Diseases; Neoplasms Disease or Syndrome 52 0.300 None 0