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: 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 0.200 None 1.000 12 2007 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.090 None 1.000 9 2014 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.360 None 1.000 6 2011 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.040 None 1.000 4 2018 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2015 2018
CUI: C0949664
Disease: Tauopathies
Tauopathies 		group Nervous System Diseases Disease or Syndrome 245 43 0.030 None 1.000 3 2012 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2015 2018
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.020 None 1.000 2 2017 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.020 None 1.000 2 2012 2018
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.110 None 1.000 1 2017 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2017 2017
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2017 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2010 2010
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 2007 2007
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.010 None 1.000 1 2017 2017
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.010 None 1.000 1 2019 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2017 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2017 2017
CUI: C0751955
Disease: Brain Infarction
Brain Infarction 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 114 11 0.200 None 1.000 1 2002 2002
CUI: C0752308
Disease: Hypoxia-Ischemia, Brain
Hypoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 81 0.200 None 1.000 1 2006 2006
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2019 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2019 2019
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.010 None 1.000 1 2017 2017
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 9 92 0.010 None 1.000 1 2017 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.300 None 1.000 1 2017 2017