EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease CTD_human
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0751784
Disease: Lafora Body Disease, Late Onset
Lafora Body Disease, Late Onset 		0.300 Biomarker disease CTD_human
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.210 Biomarker group MGD
CUI: C0598798
Disease: Lymphoid neoplasm
Lymphoid neoplasm 		0.200 Biomarker disease MGD
CUI: C0497327
Disease: Dementia
Dementia 		0.110 Biomarker disease HPO
CUI: C0003635
Disease: Apraxias
Apraxias 		0.100 Biomarker group HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0009676
Disease: Confusion
Confusion 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0018681
Disease: Headache
Headache 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 Biomarker group HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.100 Biomarker disease HPO
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.100 Biomarker disease HPO
CUI: C0085633
Disease: Mood swings
Mood swings 		0.100 Biomarker disease HPO
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.100 Biomarker disease HPO
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		0.100 Biomarker disease HPO
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.100 Biomarker disease HPO
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 Biomarker phenotype HPO