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: C0239337
Disease: Deformity of limb
Deformity of limb
group Anatomical Abnormality 30 1 0.010 1.000 1 2015 2015
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris
disease Congenital Abnormality 19 1 0.010 1.000 1 2002 2002
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 1997 1997
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME
disease Disease or Syndrome 8 6 0.020 1.000 2 2002 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.010 1.000 1 2007 2007
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 3 0.010 1.000 1 2002 2002
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 6 0.010 1.000 1 2002 2002
CUI: C0004565
Disease: Melanoma, B16
Melanoma, B16
disease Neoplasms Experimental Model of Disease; Neoplastic Process 135 2 0.010 1.000 1 2012 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.320 1.000 2 1 2009 2009
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.010 1.000 1 2015 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.010 1.000 1 2009 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.010 1.000 1 2015 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.020 0.500 2 2011 2012
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Neoplastic Process 2089 36 0.020 1.000 2 2012 2015
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplastic Process 839 9 0.020 1.000 2 2012 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.010 1.000 1 2011 2011
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 1936 180 0.010 1.000 1 2013 2013
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
group Hemic and Lymphatic Diseases; Immune System Diseases Neoplastic Process 214 6 0.010 1.000 1 2016 2016
Secondary malignant neoplasm of lung
disease Neoplastic Process 682 7 0.010 < 0.001 1 2011 2011
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.010 1.000 1 2016 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.010 1.000 1 2011 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 853 42 0.010 1.000 1 2013 2013