EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
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: C1272765
Disease: Minimal deviation adenocarcinoma of endocervical type
Minimal deviation adenocarcinoma of endocervical type 		disease Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C1850764
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 2B
EPILEPSY, PROGRESSIVE MYOCLONIC 2B 		disease Nervous System Diseases Disease or Syndrome 2 7 0.010 None 1.000 1 2016 2016
CUI: C0751784
Disease: Lafora Body Disease, Late Onset
Lafora Body Disease, Late Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.300 None 0
CUI: C4317153
Disease: Simple partial occipital seizures
Simple partial occipital seizures 		disease Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C4476727
Disease: Erratic myoclonus
Erratic myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.100 None 0
CUI: C1849186
Disease: Severe photosensitivity
Severe photosensitivity 		phenotype Skin and Connective Tissue Diseases Finding 4 1 0.100 None 0
CUI: C3806961
Disease: Giant somatosensory evoked potentials
Giant somatosensory evoked potentials 		phenotype Finding 4 0.100 None 0
CUI: C0149670
Disease: Disorder of carbohydrate metabolism
Disorder of carbohydrate metabolism 		group Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2010 2010
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0917808
Disease: Vegetative State
Vegetative State 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 5 0.100 None 0
CUI: C1850765
Disease: Visual auras
Visual auras 		disease Nervous System Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		disease Nervous System Diseases Disease or Syndrome 17 0.300 None 1.000 1 2015 2015
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.100 None 0
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		disease Nervous System Diseases Disease or Syndrome 20 20 0.300 None 1.000 1 2015 2015
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C0598798
Disease: Lymphoid neoplasm
Lymphoid neoplasm 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 30 1 0.200 None 0
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		phenotype Mental Disorders Finding 33 5 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 0.100 None 0
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 39 5 0.100 None 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0
CUI: C0023186
Disease: Learning Disorders
Learning Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 1 0.010 None 1.000 1 2002 2002