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
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
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
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: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.200 None 1.000 11 4 2005 2020
CUI: C0338480
Disease: Common Migraine
Common Migraine 		disease Nervous System Diseases Disease or Syndrome 77 62 0.030 None 1.000 3 3 2005 2016
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: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.100 None 1.000 1 2 2020 2020
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: 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: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0 2
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.100 None 0 2
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: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 12 1 1992 2017
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		disease Nervous System Diseases Disease or Syndrome 10 14 0.100 None 1.000 12 1 2004 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 12 1 1992 2017
CUI: C1832903
Disease: MIGRAINE, SPORADIC HEMIPLEGIC
MIGRAINE, SPORADIC HEMIPLEGIC 		disease Nervous System Diseases Disease or Syndrome 2 4 0.080 None 1.000 8 1 2008 2018
CUI: C3549447
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 		disease Disease or Syndrome 2 1 0.610 None 1.000 5 1 2003 2020
CUI: C0270860
Disease: Basilar-Type Migraine
Basilar-Type Migraine 		disease Nervous System Diseases Disease or Syndrome 3 3 0.030 None 1.000 3 1 2005 2008
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: 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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2011 2011
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		phenotype Sign or Symptom 24 5 0.010 None < 0.001 1 1 2004 2004