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: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		disease Nervous System Diseases Disease or Syndrome 9 25 0.800 None 0.982 55 25 2004 2019
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 4 0.900 None 0.977 44 4 2009 2019
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.100 None 1.000 33 8 2012 2019
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.100 None 1.000 33 8 2012 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 27 2 1988 2017
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 11 0.800 strong 1.000 19 11 2012 2019
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		disease Disease or Syndrome 1 38 0.610 strong 1.000 14 38 2004 2017
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.140 None 1.000 4 2015 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.130 None 1.000 3 3 2015 2019
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 24 20 0.030 None 1.000 3 2017 2018
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 17 0.030 None 1.000 3 2017 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.520 None 0.500 2 1 1998 2001
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 1999 2013
CUI: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 2 0.020 None 1.000 2 2 2014 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2 2015 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.300 None 1.000 1 2011 2011
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.400 None 1.000 1 2011 2011
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.010 None 1.000 1 2015 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2020 2020
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.010 None 1.000 1 2018 2018
CUI: C0018572
Disease: Hand, Foot and Mouth Disease
Hand, Foot and Mouth Disease 		disease Infections Disease or Syndrome 63 13 0.010 None 1.000 1 2018 2018
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 411 50 0.010 None 1.000 1 2014 2014
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.300 None 1.000 1 2008 2008
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.300 None 1.000 1 2008 2008
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		disease Cardiovascular Diseases Disease or Syndrome 123 5 0.300 None 1.000 1 2008 2008