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: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2017 2017
CUI: C0020595
Disease: Hypoaldosteronism
Hypoaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2003 2003
CUI: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 12 0.010 None 1.000 1 1991 1991
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		disease Neoplasms Neoplastic Process 93 3 0.010 None 1.000 1 2020 2020
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.010 None 1.000 1 2010 2010
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 42 30 0.010 None 1.000 1 1991 1991
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 67 3 0.010 None 1.000 1 2018 2018
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 58 19 0.010 None 1.000 1 2017 2017
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 5 0.010 None 1.000 1 1991 1991
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.010 None 1.000 1 2017 2017
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2011 2011
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2012 2012
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		disease Disease or Syndrome 16 7 0.010 None 1.000 1 2019 2019
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.010 None 1.000 1 2012 2012
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 2 0.010 None 1.000 1 2015 2015
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 194 11 0.010 None 1.000 1 2013 2013
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 63 10 0.010 None 1.000 1 2015 2015
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.010 None 1.000 1 2019 2019
CUI: C0266692
Disease: Craniopagus
Craniopagus 		disease Congenital Abnormality 1 0.010 None 1.000 1 1991 1991
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.010 None 1.000 1 2013 2013
CUI: C0947961
Disease: Atopic disorders
Atopic disorders 		group Disease or Syndrome 29 2 0.010 None < 0.001 1 2018 2018
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2008 2008
CUI: C0266384
Disease: Congenital absence of uterus
Congenital absence of uterus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 1 0.010 None 1.000 1 2016 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019