Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		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
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		0.720 Biomarker disease GENOMICS_ENGLAND Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. 23150280 2013
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		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
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		0.720 GermlineCausalMutation disease ORPHANET Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. 23150280 2013
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		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
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		0.720 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		0.720 GeneticVariation disease UNIPROT Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. 18622393 2008
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		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
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		0.720 Biomarker disease CTD_human
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 346171
Gene Symbol: ZFP57
ZFP57 		0.720 CausalMutation disease CLINVAR
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.550 GeneticVariation disease BEFREE In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n=3), ABCC8 (n=1) and homozygous INS (n=1). 25755231 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.550 GermlineCausalMutation disease ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247 2012
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.550 GermlineCausalMutation disease ORPHANET Review on monogenic diabetes. 21844708 2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.550 GermlineCausalMutation disease ORPHANET Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. 21738553 2011
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.550 GeneticVariation disease BEFREE We identified a new TNDM mutation (R826W) in the first nucleotide-binding domain (NBD1) of SUR1. 18497752 2008
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.550 GeneticVariation disease BEFREE Mutations in the ABCC8 gene encoding the SUR1 subunit of the pancreatic ATP-sensitive potassium channel cause permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). 17919176 2007
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.550 GeneticVariation disease BEFREE K(ATP) channel mutations were found in 25 of 97 (26%) TNDM probands (12 KCNJ11 and 13 ABCC8), while 69 of 97 (71%) had chromosome 6q24 abnormalities. 17446535 2007
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.550 GeneticVariation disease BEFREE Functional characterization of the TNDM associated mutations was performed by expressing the mutated Kir6.2 with SUR1 in Xenopus laevis oocytes. 15718250 2005
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.550 Biomarker disease MGD Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion. 10734066 2000
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI 		0.520 GermlineCausalMutation disease ORPHANET Review on monogenic diabetes. 21844708 2011
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI 		0.520 GermlineCausalMutation disease ORPHANET Transient neonatal diabetes mellitus type 1. 20803656 2010
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI 		0.520 AlteredExpression disease BEFREE Expression of human ZAC and HYMAI in these transgenic mice thus recapitulates key features of TNDM and implicates impaired development of the endocrine pancreas and beta cell function in disease pathogenesis. 15286800 2004
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI 		0.520 Biomarker disease BEFREE HYMAI and ZAC/LOT1 are therefore candidate genes involved in TNDM. 10936046 2000
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI 		0.520 Biomarker disease CTD_human