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.
Mental Retardation, X-Linked, Syndromic, Christianson Type
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 13 0.010 None 1.000 1 2018 2018
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2018 2018
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
group Nervous System Diseases Disease or Syndrome 351 81 0.010 None 1.000 1 2019 2019
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2020 2020
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.010 None 1.000 1 2010 2010
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2017 2017
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 100 4 0.010 None 1.000 1 2017 2017
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 2017 2017
CUI: C1510472
Disease: Drug Dependence
Drug Dependence
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 248 31 0.010 None 1.000 1 1 2016 2016
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.010 None 1.000 1 2017 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2008 2008
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2019 2019
CUI: C0027441
Disease: Nasopharyngitis
Nasopharyngitis
disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 19 0.010 None 1.000 1 2015 2015
CUI: C0023015
Disease: Language Disorders
Language Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 94 25 0.010 None 1.000 1 2017 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 2015 2015
CUI: C0023518
Disease: Leukocytosis
Leukocytosis
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.010 None 1.000 1 2016 2016
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 16 0.010 None 1.000 1 1999 1999
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 526 44 0.010 None 1.000 1 2019 2019
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid
disease Skin and Connective Tissue Diseases Disease or Syndrome 552 46 0.010 None 1.000 1 2019 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2018 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.010 None 1.000 1 2018 2018
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 320 33 0.010 None 1.000 1 2008 2008
CUI: C0027438
Disease: Nasopharyngeal Diseases
Nasopharyngeal Diseases
group Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis
disease Disease or Syndrome 84 14 0.010 None 1.000 1 1999 1999
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2008 2008