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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0 1
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.550 disputed 1.000 10 2 2008 2019
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 3 0.600 None 1.000 10 3 1970 2019
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 4 0.600 disputed 1.000 7 2 2008 2017
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 234 0.500 disputed 1.000 7 2008 2017
CUI: C1721096
Disease: Brugada ECG Pattern
Brugada ECG Pattern 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 4 0.300 None 1.000 1 2012 2012
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.010 None 1.000 1 2019 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.010 None 1.000 1 2019 2019
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 13 0.010 None 1.000 1 2000 2000
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 20 0.010 None 1.000 1 2006 2006
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.100 None 0
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 19 17 0.010 None 1.000 1 1 2018 2018
CUI: C0017160
Disease: Gastroenteritis
Gastroenteritis 		disease Digestive System Diseases Disease or Syndrome 94 0.010 None < 0.001 1 2011 2011
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2014 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2014 2014
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.400 None 0.929 14 3 2002 2019
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.100 None 0.900 10 3 2006 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.090 None 1.000 9 2 2002 2018
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.090 None 1.000 9 1998 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.130 None 1.000 3 1 2017 2019
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.020 None 1.000 2 2007 2017
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.010 None < 0.001 1 2011 2011