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: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		disease Disease or Syndrome 1 8 0.600 strong 1.000 2 8 2017 2018
CUI: C4748872
Disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2018 2018
CUI: C1531553
Disease: Dendritic cell neoplasm
Dendritic cell neoplasm 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 6 2 0.010 None 1.000 1 2000 2000
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		phenotype Finding 8 6 0.100 None 0 1
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		phenotype Finding 11 15 0.100 None 0 1
CUI: C0039584
Disease: Testicular Diseases
Testicular Diseases 		group Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 1 0.300 None 1.000 1 2007 2007
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		phenotype Finding 19 3 0.100 None 0 1
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 0.300 None 1.000 1 2013 2013
CUI: C0497406
Disease: Overweight
Overweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0 1
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 3 0.100 None 0 1
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		phenotype Finding 31 3 0.100 None 0 1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C0003869
Disease: Arthritis, Infectious
Arthritis, Infectious 		group Infections; Musculoskeletal Diseases Disease or Syndrome 33 0.010 None 1.000 1 2004 2004
CUI: C1692886
Disease: Arthritis, Bacterial
Arthritis, Bacterial 		group Infections; Musculoskeletal Diseases Disease or Syndrome 34 0.010 None 1.000 1 2004 2004
CUI: C0013528
Disease: Echolalia
Echolalia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 39 4 0.100 None 0 1
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype Finding 41 4 0.100 None 0 1
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		phenotype Finding 41 2 0.100 None 0
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 42 1 0.100 None 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype Finding 49 1 0.100 None 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 0 1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.100 None 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype Finding 52 9 0.100 None 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 57 24 0.100 None 0 1
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0 1
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.100 None 0