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: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma
disease Neoplasms Neoplastic Process 36 4 0.400 None 0.952 21 2011 2019
Epithelioid hemangioendothelioma, malignant
disease Neoplasms Neoplastic Process 29 0.100 None 0.933 15 2011 2019
Adult Epithelioid Hemangioendothelioma
disease Neoplasms Neoplastic Process 26 0.100 None 0.917 12 2011 2019
Childhood 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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.070 None 1.000 7 2003 2011
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.070 None 1.000 7 2003 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: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
disease Neoplasms Neoplastic Process 162 7 0.020 None 1.000 2 2016 2020
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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.020 None 1.000 2 2011 2013
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: C0279988
Disease: Childhood Angiosarcoma
Childhood Angiosarcoma
disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2016 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2011 2011
Pleural Epithelioid Hemangioendothelioma
disease Neoplasms Neoplastic Process 1 0.010 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
CUI: C0278592
Disease: Adult Angiosarcoma
Adult Angiosarcoma
disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2016 2016
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2015 2015
CUI: C0031099
Disease: Periodontitis
Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 682 116 0.010 None 1.000 1 2015 2015
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2011 2011
CUI: C0742034
Disease: cerebellar function
cerebellar function
disease Disease or Syndrome 14 0.010 None 1.000 1 2015 2015
Cutaneous Fibrous Histiocytoma, Epithelioid Variant
disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2016 2016
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