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: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2017 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2017 2017
CUI: C1838062
Disease: Autosomal Dominant Lateral Temporal Lobe Epilepsy
Autosomal Dominant Lateral Temporal Lobe Epilepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 8 4 0.300 None 1.000 2 2013 2013
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		disease Nervous System Diseases Disease or Syndrome 17 8 0.310 None 1.000 3 2013 2014
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		disease Disease or Syndrome 5 4 0.010 None 1.000 1 2014 2014
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2018 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2018 2018
CUI: C0341439
Disease: Chronic liver disease
Chronic liver disease 		group Digestive System Diseases Disease or Syndrome 196 14 0.010 None 1.000 1 2018 2018
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.010 None 1.000 1 2 2016 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 1.000 1 1 2017 2017
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.100 None 1.000 1 1 2017 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2014 2017
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.040 None 1.000 4 2014 2019
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.010 None 1.000 1 2015 2015
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2017 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 1 1 2018 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.100 None 0.952 21 2013 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 0.929 14 2 2014 2020
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		disease Nervous System Diseases Disease or Syndrome 1 67 0.600 strong 1.000 19 67 1999 2016
CUI: C1968848
Disease: Epilepsy, Familial Mesial Temporal Lobe
Epilepsy, Familial Mesial Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2015 2015
CUI: C0085541
Disease: Epilepsy, Frontal Lobe
Epilepsy, Frontal Lobe 		disease Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2016 2016
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		disease Nervous System Diseases Disease or Syndrome 8 24 0.770 definitive 1.000 19 24 2013 2019
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 5 2018 2018
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 354 33 0.010 None 1.000 1 2015 2015