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: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 0.520 None 1.000 3 2008 2018
CUI: C0949496
Disease: Luft Disease
Luft Disease 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2015 2015
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		disease Disease or Syndrome 4 0.300 None 1.000 1 2001 2001
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.300 None 1.000 1 2015 2015
CUI: C0162669
Disease: Pleoconial Myopathies
Pleoconial Myopathies 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2015 2015
CUI: C0162668
Disease: Megaconial Myopathies
Megaconial Myopathies 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2015 2015
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding 29 0.300 None 1.000 1 2015 2015
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.300 None 1.000 1 2015 2015
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2015 2015
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.300 None 1.000 1 2015 2015
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		disease Mental Disorders Mental or Behavioral Dysfunction 30 0.300 None 1.000 1 2015 2015
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.300 None 1.000 1 2015 2015
CUI: C0023186
Disease: Learning Disorders
Learning Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 1 0.300 None 1.000 1 2015 2015
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		disease Disease or Syndrome 2 0.300 None 1.000 1 2013 2013
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2015 2015
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2015 2015
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 23 0.300 None 1.000 1 2015 2015
CUI: C0026613
Disease: Motor Skills Disorders
Motor Skills Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 8 0.300 None 1.000 1 2015 2015
CUI: C0268641
Disease: Amino acid transport disorder
Amino acid transport disorder 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.200 None 1.000 1 2015 2015
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.110 None 1.000 2 1 2000 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.929 28 1991 2018
CUI: C0011206
Disease: Delirium
Delirium 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 110 7 0.100 None 1.000 18 2017 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.100 None 0.909 11 1991 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 3 3 2010 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 1 2019 2019