ZFP57, ZFP57 zinc finger protein, 346171

N. diseases: 61; N. variants: 13
Disease: Diabetes Mellitus, Transient Neonatal, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 GeneticVariation disease BEFREE We have expanded the epimutational spectrum of TNDM1 associated with ZFP57 mutations and found one novel region within PPP1R13L which is hypomethylated in all TNDM1 patients included in this study. 27075368 2016
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 Biomarker disease GENOMICS_ENGLAND Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. 23150280 2013
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 GermlineCausalMutation disease ORPHANET Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1. 23499433 2013
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 GermlineCausalMutation disease ORPHANET Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. 23150280 2013
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 GeneticVariation disease BEFREE A mutation analysis identified a 1 bp deletion in the ZFP57 gene in a TNDM patient with methylation defects at multiple maternal DMRs. 23335487 2013
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 GeneticVariation disease UNIPROT Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. 18622393 2008
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 Biomarker disease GENOMICS_ENGLAND Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. 18622393 2008
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 Biomarker disease CTD_human
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.720 CausalMutation disease CLINVAR