PRRT2, proline rich transmembrane protein 2, 112476

N. diseases: 353; N. variants: 29
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: C0238014
Disease: Acute cerebellar ataxia
Acute cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0544645
Disease: Focal Sensory Seizure
Focal Sensory Seizure 		disease Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1853995
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 3 7 0.700 None 1.000 9 7 2011 2015
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 9 0.800 definitive 0.957 23 9 2000 2017
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG 		phenotype Finding 4 1 0.100 None 0
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		disease Nervous System Diseases Disease or Syndrome 6 19 0.310 None 1.000 4 2000 2013
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 2012 2012
CUI: C1854181
Disease: FIBROMATOSIS, GINGIVAL, 2
FIBROMATOSIS, GINGIVAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C4021885
Disease: Atrial cardiomyopathy
Atrial cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2020 2020
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 1 0.020 None 1.000 2 2012 2013
CUI: C0332886
Disease: Coarctation
Coarctation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 8 0.010 None 1.000 1 2019 2019
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 38 0.010 None 1.000 1 2014 2014
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		disease Nervous System Diseases Disease or Syndrome 10 14 0.100 None 1.000 10 2012 2015
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 5 0.410 None 1.000 4 2012 2013
CUI: C1333500
Disease: Extragastrointestinal Gastrointestinal Stromal Tumor
Extragastrointestinal Gastrointestinal Stromal Tumor 		disease Digestive System Diseases; Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2012 2012
CUI: C1536075
Disease: Sudden unexplained death in epilepsy
Sudden unexplained death in epilepsy 		disease Disease or Syndrome 12 0.010 None 1.000 1 2013 2013
CUI: C3888552
Disease: Autoimmune colitis
Autoimmune colitis 		disease Disease or Syndrome 12 0.010 None 1.000 1 2014 2014
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 0.020 None 1.000 2 2012 2014
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 13 60 0.010 None 1.000 1 2019 2019
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		disease Nervous System Diseases Disease or Syndrome 14 6 0.500 None 1.000 50 6 2011 2020
CUI: C0393735
Disease: Headache Disorders
Headache Disorders 		group Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2015 2015
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.200 None 1.000 16 1999 2019
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		disease Nervous System Diseases Disease or Syndrome 15 9 0.010 None 1.000 1 2013 2013
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 15 2 0.010 None < 0.001 1 2017 2017