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: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		0.300 Biomarker disease CTD_human
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		0.300 Biomarker disease CTD_human
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: C0009676
Disease: Confusion
Confusion 		0.100 Biomarker phenotype HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease HPO
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		0.300 Biomarker disease CTD_human
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.010 PosttranslationalModification disease BEFREE DNA methylation in PRDM8 is indicative for dyskeratosis congenita. 26909595 2016
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: 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: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		0.300 Biomarker disease CTD_human
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.100 Biomarker disease HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		0.010 Biomarker disease BEFREE PRDI-BF1 and RIZ homology domain containing 8 (PRDM8) is a key regulator in neural development and testis steroidogenesis; however, its role in liver carcinogenesis remains to be investigated. 29572888 2018
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0206180
Disease: Ki-1+ Anaplastic Large Cell Lymphoma
Ki-1+ Anaplastic Large Cell Lymphoma 		0.010 GeneticVariation disease BEFREE Array-comparative genomic hybridisation and targeted next-generation sequencing analysis demonstrated relative genomic stability of LyP lesions as compared with clonally related anaplastic large-cell lymphoma (ALCL) tumours, which showed 4q and 22q13 deletions involving the PRDM8 and TIMP3 tumour suppressor genes, respectively. 30393995 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE Conclusion: PRDM8 as a functional tumor suppressor is frequently down-regulated in HCC. 29572888 2018
CUI: C0206182
Disease: Lymphomatoid Papulosis
Lymphomatoid Papulosis 		0.010 Biomarker disease BEFREE Array-comparative genomic hybridisation and targeted next-generation sequencing analysis demonstrated relative genomic stability of LyP lesions as compared with clonally related anaplastic large-cell lymphoma (ALCL) tumours, which showed 4q and 22q13 deletions involving the PRDM8 and TIMP3 tumour suppressor genes, respectively. 30393995 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE Genes with DMRs were involved in inflammatory response (IRAK4 and ESM1), cancer (BRCA1 and LASP1), endocrine function (CNPY1), and male fertility (IFT140, TESC, and PRDM8). 28556291 2017
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome 		0.300 Biomarker disease CTD_human