Source: BEFREE ×
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: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		disease Disease or Syndrome 4 0.010 None 1.000 1 2014 2014
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		disease Nervous System Diseases Disease or Syndrome 16 7 0.310 None 1.000 1 2013 2014
CUI: C1842564
Disease: Temporal epilepsy, familial
Temporal epilepsy, familial 		disease Nervous System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2014 2015
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1382 269 0.020 None 1.000 2 2014 2015
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group Neoplasms Neoplastic Process 528 52 0.010 None 1.000 1 2015 2015
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 280 35 0.010 None 1.000 1 2015 2015
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 48 1 0.010 None 1.000 1 2015 2015
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: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		disease Neoplasms Neoplastic Process 381 14 0.010 None 1.000 1 2015 2015
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		disease Nervous System Diseases Disease or Syndrome 305 33 0.010 None 1.000 1 2015 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 951 100 0.020 None 1.000 2 2014 2016
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1099 171 0.020 None 1.000 2 2 2014 2016
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		disease Digestive System Diseases; Infections Disease or Syndrome 404 61 0.120 None 1.000 2 2011 2016
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1469 42 0.020 None 1.000 2 2014 2016
CUI: C0085541
Disease: Epilepsy, Frontal Lobe
Epilepsy, Frontal Lobe 		disease Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2016 2016
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 815 110 0.010 None 1.000 1 2 2016 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73 0.020 None 1.000 2 2014 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1018 256 0.010 None 1.000 1 2017 2017
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.060 None 1.000 6 2013 2018
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 100 24 0.020 None 1.000 2 2015 2018
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 28 4 0.010 None 1.000 1 2018 2018
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: C4478700
Disease: Focal cortical dysplasia type IIa
Focal cortical dysplasia type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 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