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: 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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.070 None 1.000 7 2003 2011
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.070 None 1.000 7 2003 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.070 None 1.000 7 2 2003 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.030 None 1.000 3 2012 2015
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.020 None 1.000 2 2012 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		disease Neoplasms Neoplastic Process 162 7 0.020 None 1.000 2 2016 2020
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.020 None 1.000 2 2012 2014
CUI: C3553661
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		disease Disease or Syndrome 1 3 0.700 None 1.000 2 3 2012 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.020 None 1.000 2 2011 2013
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
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.020 None 1.000 2 2 2013 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2015 2015
CUI: C0561843
Disease: Memory, Episodic
Memory, Episodic 		phenotype Mental Process 2 2 0.100 None 1.000 1 1 2007 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2011 2011
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: C0279988
Disease: Childhood Angiosarcoma
Childhood Angiosarcoma 		disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2016 2016
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2011 2011
CUI: C0345907
Disease: Angiosarcoma of liver
Angiosarcoma of liver 		disease Digestive System Diseases; Neoplasms; Cardiovascular Diseases Neoplastic Process 11 1 0.010 None 1.000 1 2020 2020
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		phenotype Finding 104 203 0.100 None 1.000 1 1 2019 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2015 2015