PRDM8, PR/SET domain 8, 56978

N. diseases: 39; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225258
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10
EPILEPSY, PROGRESSIVE MYOCLONIC, 10 		0.700 Biomarker disease GENOMICS_ENGLAND Early-onset Lafora body disease. 22961547 2012
CUI: C4225258
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10
EPILEPSY, PROGRESSIVE MYOCLONIC, 10 		0.700 GeneticVariation disease UNIPROT Early-onset Lafora body disease. 22961547 2012
CUI: C4225258
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10
EPILEPSY, PROGRESSIVE MYOCLONIC, 10 		0.700 GermlineCausalMutation disease ORPHANET Early-onset Lafora body disease. 22961547 2012
CUI: C4225258
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10
EPILEPSY, PROGRESSIVE MYOCLONIC, 10 		0.700 CausalMutation disease CLINVAR
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		0.300 Biomarker disease CTD_human
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		0.300 Biomarker disease CTD_human
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.300 Biomarker disease CTD_human
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		0.300 Biomarker disease CTD_human
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		0.300 Biomarker disease CTD_human
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0009676
Disease: Confusion
Confusion 		0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C0026884
Disease: Mutism
Mutism 		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: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.100 Biomarker phenotype HPO
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.100 Biomarker disease HPO
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease HPO