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.
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
disease Disease or Syndrome 1 3 0.700 None 1.000 2 3 2012 2015
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma
disease Neoplasms Neoplastic Process 36 4 0.400 None 0.952 21 2011 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.110 None 1.000 3 1 2007 2011
Amyotrophic Lateral Sclerosis, Sporadic
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.110 None 1.000 1 1 2016 2016
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.110 None 1.000 1 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2015 2015
Epithelioid hemangioendothelioma, malignant
disease Neoplasms Neoplastic Process 29 0.100 None 0.933 15 2011 2019
Childhood Epithelioid Hemangioendothelioma
disease Neoplasms Neoplastic Process 26 0.100 None 0.917 12 2011 2019
Adult Epithelioid Hemangioendothelioma
disease Neoplasms Neoplastic Process 26 0.100 None 0.917 12 2011 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 10 2003 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 8 1 2006 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 8 1 2006 2015
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 2 2 2018 2018
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 31 54 0.100 None 1.000 1 1 2016 2016
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement
group Laboratory Procedure 50 116 0.100 None 1.000 1 1 2013 2013
CUI: C0561843
Disease: Memory, Episodic
Memory, Episodic
phenotype Mental Process 2 2 0.100 None 1.000 1 1 2007 2007
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.100 None 1.000 1 1 2020 2020
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.100 None 1.000 1 1 2018 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2012 2012
CUI: C0424574
Disease: Duration of sleep
Duration of sleep
phenotype Finding 104 203 0.100 None 1.000 1 1 2019 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
disease Disease or Syndrome 27 67 0.100 None 1.000 1 1 2016 2016