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: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1718 245 0.010 None 1.000 1 2019 2019
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		disease Nervous System Diseases Disease or Syndrome 184 35 0.010 None 1.000 1 2017 2017
CUI: C0393576
Disease: Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 2001 2001
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.010 None 1.000 1 2019 2019
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.010 None 1.000 1 2017 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2001 2001
CUI: C0748607
Disease: Recurrent seizure
Recurrent seizure 		disease Nervous System Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2018 2018
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 60 52 0.010 None 1.000 1 2016 2016
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.010 None 1.000 1 2011 2011
CUI: C0270851
Disease: Benign neonatal epilepsy
Benign neonatal epilepsy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2007 2007
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 13 0.010 None 1.000 1 2001 2001
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.010 None 1.000 1 1 2016 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2018 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2019 2019
CUI: C1956415
Disease: Paroxysmal nocturnal dyspnea
Paroxysmal nocturnal dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 1995 1995
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.010 None 1.000 1 2018 2018
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 2013 2013
CUI: C0007384
Disease: Cataplexy
Cataplexy 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 36 5 0.010 None 1.000 1 2016 2016
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group Nervous System Diseases Disease or Syndrome 66 4 0.010 None 1.000 1 2009 2009
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		disease Nervous System Diseases Disease or Syndrome 10 14 0.010 None 1.000 1 2001 2001
CUI: C4511005
Disease: Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal dominant primary hypomagnesemia with hypocalciuria 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2009 2009
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2019 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2017 2017