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: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
disease Nervous System Diseases Disease or Syndrome 6 14 0.800 None 1.000 23 13 2003 2020
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
disease Disease or Syndrome 2 1 0.610 None 1.000 5 1 2003 2020
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 0.540 None 1.000 5 2004 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.500 None 1.000 3 2001 2005
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 92 14 0.410 None 1.000 1 2 2020 2020
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.400 None 0.958 24 1 2003 2019
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.400 None 1.000 2 2003 2003
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.400 None 1.000 1 2 2020 2020
CUI: C0009421
Disease: Comatose
Comatose
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 1 0.400 strong 1.000 1 2009 2009
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 0.320 strong 1.000 2 1 2003 2004
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 19 0.310 strong 1.000 2 2007 2018
CUI: C0270816
Disease: epilepsy and migraine
epilepsy and migraine
disease Disease or Syndrome 7 1 0.310 strong 1.000 2 1 2003 2008
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.310 strong 1.000 2 2009 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.310 None 1.000 1 2 2009 2009
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.300 None 1.000 1 2020 2020
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 62 6 0.300 strong 1.000 1 2009 2009
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine
disease Nervous System Diseases Disease or Syndrome 24 17 0.200 None 1.000 42 9 2002 2019
Hemiplegic migraine, familial type 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 37 0.200 None 0.917 36 6 2002 2017
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
disease Nervous System Diseases Disease or Syndrome 87 56 0.200 None 0.917 12 2003 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.200 None 1.000 11 4 2005 2020
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.200 None 1.000 1 2013 2013
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.200 None 1.000 1 2005 2005
CUI: C0477373
Disease: Other forms of migraine
Other forms of migraine
group Nervous System Diseases Disease or Syndrome 2 0.200 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.130 None 0.667 3 2004 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.130 None 1.000 3 2004 2014