|
Papillary thyroid carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Down-regulation of 14q32-encoded miRNAs and tumor suppressor role for miR-654-3p in papillary thyroid cancer.
|
28030816 |
2017 |
|
Nonmedullary Thyroid Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Down-regulation of 14q32-encoded miRNAs and tumor suppressor role for miR-654-3p in papillary thyroid cancer.
|
28030816 |
2017 |
|
Familial Nonmedullary Thyroid Cancer
|
0.300 |
Biomarker
|
disease |
CTD_human |
Down-regulation of 14q32-encoded miRNAs and tumor suppressor role for miR-654-3p in papillary thyroid cancer.
|
28030816 |
2017 |
|
Chronic Obstructive Airway Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.
|
30940143 |
2019 |
|
RESTING HEART RATE
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.
|
30940143 |
2019 |
|
Red cell distribution width determination
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.
|
28957414 |
2017 |
|
RDW - Red blood cell distribution width result
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.
|
28957414 |
2017 |
|
Red cell distribution width determination
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
RDW - Red blood cell distribution width result
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Russell-Silver syndrome
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, while both IGF2 mutations and H19/IGF2:IG-DMR epimutations lead to SRS, a certain degree of phenotypic difference is observed between the two groups, probably due to the different IGF2 expression pattern in target tissues.
|
31544945 |
2020 |
|
Beckwith-Wiedemann Syndrome
|
0.060 |
PosttranslationalModification
|
disease |
BEFREE |
The most common epigenetic defect in BWS is a loss of methylation (LOM) at the 11p15.5 imprinting centre, KCNQ1OT1 TSS-DMR, and affects 50% of cases.
|
30165906 |
2018 |
|
Russell-Silver syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
Similarly to what is proposed for maternally inherited BWS mutations and CTCF and OCT4/SOX2 binding, we suggest that deletions of the <i>H19/IGF2</i>:IG-DMR result in SRS with LOM if ZFP57 binding on the paternal chromosome is affected.
|
29484033 |
2018 |
|
Russell-Silver syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
|
27701793 |
2017 |
|
Beckwith-Wiedemann Syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
Eighty-eight percent of BWS patients born via assisted reproductive techniques had hypomethylation of KCNQ1OT1:TSS-DMR in comparison with 49% for patients with BWS conceived naturally.
|
27480579 |
2016 |
|
Russell-Silver syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
The results indicate the occurrence of epimutation affecting the IG-DMR and the MEG3-DMR in the two cases, and imply that UPD(14)mat and related (epi)genetic aberrations constitute a rare but important underlying factor for SRS.
|
25351781 |
2015 |
|
Beckwith-Wiedemann Syndrome
|
0.060 |
PosttranslationalModification
|
disease |
BEFREE |
Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome.
|
22577095 |
2012 |
|
Russell-Silver syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features and is frequently caused by hypomethylation (epimutation) of the H19-DMR.
|
18607558 |
2008 |
|
Russell-Silver syndrome
|
0.060 |
Biomarker
|
disease |
BEFREE |
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.
|
18709478 |
2008 |
|
Beckwith-Wiedemann Syndrome
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Analysis of 47 Japanese cases of BWS revealed a significantly lower frequency of H19-DMR hypermethylation and a higher frequency of chromosome abnormality than in North American and European patients.
|
17700627 |
2007 |
|
Beckwith-Wiedemann Syndrome
|
0.060 |
PosttranslationalModification
|
disease |
BEFREE |
In Beckwith-Wiedemann syndrome (BWS), approximately 50% of patients show loss of DNA methylation accompanied by loss of histone H3 Lys9 dimethylation on maternal KCNQ1OT-DMR, namely an imprinting disruption, leading to diminished expression of CDKN1C.
|
16575194 |
2006 |
|
Beckwith-Wiedemann Syndrome
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
In a normal individual and in patients with BWS with normal DMR-LIT1 methylation, histone H3 Lys9 methylation was detected on the maternal allele; however, it disappeared completely in the patients with the DMR-LIT1 imprinting defect.
|
12949703 |
2003 |
|
Neoplasm Metastasis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Hypermethylation of both the IGF2 DMR and the LINE1 was associated with more aggressive features of GC such as advanced stage (IGF2 DMR, P = 0.0002; LINE1, P < 0.0001), lymphatic invasion positive (IGF2 DMR, P = 0.004; LINE1, P = 0.002), venous invasion positive (IGF2 DMR, LINE1, both P = 0.03), lymph node metastasis positive (IGF2 DMR, P = 0.01; LINE1, P = 0.001), peritoneal dissemination positive (IGF2 DMR, P = 0.04; LINE1, P = 0.002), liver metastasis positive (IGF2 DMR, P = 0.008; LINE1, P = 0.001), and other distant metastasis positive (IGF2 DMR, P = 0.04).
|
28871451 |
2018 |
|
Neoplasm Metastasis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
The DMR was not significantly higher in younger breast cancer patients (<40 y) than in older breast cancer patients (≥40 y), ruling out the assumption that undetected metastases at diagnosis explain the poorer outcome of younger women.
|
27587709 |
2017 |
|
Neoplasm Metastasis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Interestingly, among all metastatic melanoma eDMRs, the most correlated with patient survival were eDMRs that "switched" their methylation patterns back and forth between normal, primary, and metastases and target cancer drivers, e.g., KIT We further demonstrated that eDMR target genes were modulated in melanoma by the bone metastasis microenvironment, suggesting that eDMRs respond to microenvironmental cues in metastatic niches.
|
26907635 |
2016 |
|
Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
Tumor risks were highest in the IC1 (H19/IGF2:IG-DMR) hypermethylation subgroup (28%) and pUPD subgroup (16%) and were lower in the KCNQ1OT1:TSS-DMR (IC2) subgroup (2.6%), CDKN1C (6.9%) subgroup, and the group in whom no molecular defect was detectable (6.7%).
|
27419809 |
2016 |