|
Diabetes Mellitus, Transient Neonatal, 1
|
0.520 |
GermlineCausalMutation
|
disease |
ORPHANET |
Review on monogenic diabetes.
|
21844708 |
2011 |
|
Diabetes Mellitus, Transient Neonatal, 1
|
0.520 |
GermlineCausalMutation
|
disease |
ORPHANET |
Transient neonatal diabetes mellitus type 1.
|
20803656 |
2010 |
|
Diabetes Mellitus, Transient Neonatal, 1
|
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 |
|
Diabetes Mellitus, Transient Neonatal, 1
|
0.520 |
Biomarker
|
disease |
BEFREE |
HYMAI and ZAC/LOT1 are therefore candidate genes involved in TNDM.
|
10936046 |
2000 |
|
Diabetes Mellitus, Transient Neonatal, 1
|
0.520 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Paternal uniparental disomy of chromosome 6
|
0.300 |
ChromosomalRearrangement
|
disease |
ORPHANET |
|
|
|
|
Transient neonatal diabetes mellitus
|
0.140 |
Biomarker
|
disease |
BEFREE |
To determine if PLAGL1 and HYMAI, two imprinted transcripts deregulated in Transient Neonatal Diabetes Mellitus, are involved in non-syndromic IUGR we compared the expression and DNA methylation levels in a large cohort of placental biopsies from IUGR and uneventful pregnancies.
|
24993786 |
2014 |
|
Transient neonatal diabetes mellitus
|
0.140 |
Biomarker
|
disease |
BEFREE |
The phenotype of paternal UPD6 results from biallelic expression of the maternally imprinted, paternally expressed ZAC and HYMAI genes, and includes transient neonatal diabetes mellitus (TNDM), intra-uterine growth restriction (IUGR), macroglossia, and minor anomalies.
|
21739591 |
2011 |
|
Transient neonatal diabetes mellitus
|
0.140 |
AlteredExpression
|
disease |
BEFREE |
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.
|
11935319 |
2002 |
|
Transient neonatal diabetes mellitus
|
0.140 |
Biomarker
|
disease |
BEFREE |
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.
|
11448939 |
2001 |
|
Transient neonatal diabetes mellitus
|
0.140 |
Biomarker
|
disease |
HPO |
|
|
|
|
Fetal Growth Retardation
|
0.110 |
AlteredExpression
|
phenotype |
BEFREE |
This incongruity was due to higher HYMAI expression in IUGR gestations, coupled with PLAGL1 down-regulation in placentas from IUGR girls, but not boys.
|
24993786 |
2014 |
|
Fetal Growth Retardation
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Apraxias
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Arthrogryposis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Comatose
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Dehydration
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Patent ductus arteriosus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Glycosuria
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Congenital Heart Defects
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Cardiomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Ventricular Septal Defects
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Hepatomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|