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: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.100 Biomarker disease HPO
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		0.300 Biomarker disease CTD_human
CUI: C4225258
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 10
EPILEPSY, PROGRESSIVE MYOCLONIC, 10 		0.700 CausalMutation disease CLINVAR
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: C4518574
Disease: Early-onset Lafora body disease
Early-onset Lafora body disease 		0.010 Biomarker disease BEFREE The results to date suggest that PRDM8, the early-onset Lafora body disease protein, regulates the cytoplasmic quantities of the Lafora disease enzymes. 22961547 2012
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.010 PosttranslationalModification disease BEFREE DNA methylation in PRDM8 is indicative for dyskeratosis congenita. 26909595 2016
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		0.300 Biomarker disease CTD_human
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease HPO
CUI: C0009676
Disease: Confusion
Confusion 		0.100 Biomarker phenotype HPO
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		0.010 Biomarker disease BEFREE Aberrant hypermethylation is particularly observed in PRDM8 and this may support identification and classification of bone marrow failure syndromes. 26909595 2016
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		0.300 Biomarker disease CTD_human
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		0.300 Biomarker disease CTD_human
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.300 Biomarker disease CTD_human