Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.630 PosttranslationalModification disease BEFREE This contrasts the situation we found at the IGF2/H19 locus, which shows high overexpression of IGF2 and inversely correlated expression of the H19 gene in WT. 23825673 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.630 Biomarker disease BEFREE The H19 gene, which localizes within a chromosomal region on human chromosome 11p15 that is commonly lost in Wilms tumor (WT), encodes an imprinted untranslated RNA. 21940503 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.630 GeneticVariation disease BEFREE The most common known molecular defect in Wilms tumor (WT) of the kidney, the most frequent solid tumor of childhood, is loss of imprinting (LOI) of the insulin-like growth factor-II gene (IGF2), which involves activation of the normally silent maternal allele of the gene and hypermethylation of a differentially methylated region upstream of the H19 gene. 15761865 2005
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.630 Biomarker disease HPO
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.630 Biomarker disease CTD_human
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.630 ChromosomalRearrangement disease ORPHANET
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 GeneticVariation disease BEFREE This study of a large maternal deletion encompassing the H19 gene and complete ICR1 is the first to demonstrate transcriptional consequences on IGF2 in addition to methylation effects resulting in severe overgrowth and occurrence of multiple tumors in a BWS patient. 27650505 2017
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 Biomarker disease BEFREE Molecular testing of 147 and 450 clinically diagnosed SRS and BWS cases provided diagnosis in 34 SRS and 185 BWS patients, with 9 SRS and 21 BWS cases remaining undiagnosed and herein referred to as "borderline." 26933465 2016
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 GeneticVariation disease BEFREE We assessed a detailed investigation of the methylation status of the 11p15 ICR1 CBS1-7, IGF2DMR0 and H19DMR (H19 promoter) in a population of controls (n=50) and RSS carrying (n=104) or not (n=65) carrying a hypomethylation at the 11p15 ICR1 region. 25395389 2015
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 GeneticVariation disease BEFREE Dysregulation of 11p15 genomic imprinting results in two human fetal growth disorders (Silver-Russell syndrome (SRS, MIM 180860) and Beckwith-Wiedemann syndrome (BWS, MIM 130650)) with opposite growth phenotypes. 23240093 2013
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 Biomarker disease BEFREE We demonstrate that SNP arrays are of real diagnostic interest in Beckwith-Wiedemann syndrome: 1) they help to distinguish patUPDs from trisomies more precisely than karyotyping and FISH, 2) they help determine the size and mosaicism rate of patUPDs, 3) they provide complementary information in inconclusive cases, helping to distinguish low-rate patUPD mosaicism from other BWS-related molecular defects. 23892181 2013
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker disease BEFREE On the other hand, the recent identification of unexpected genetic defects in BWS and SRS patients also brought new insights into the mechanisms of 11p15 imprinting regulation. 23240093 2013
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 PosttranslationalModification disease BEFREE DNA methylation defects involving ICR1 result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 hypermethylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). 21863054 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker disease BEFREE DNA methylation defects involving ICR1 result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 hypermethylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). 21863054 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker disease BEFREE Those new findings have direct consequences in molecular testing, risk assessment and genetic counseling of BWS and SRS patients. 22150955 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 GeneticVariation disease BEFREE In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregulation of IGF2 and bi-allelic expression of H19. 21278389 2011
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 AlteredExpression disease BEFREE The H19 gene is abundantly expressed by the human placenta and is implicated in the pathogenesis of congenital growth disorders such as Beckwith-Wiedemann (BWS) and Silver-Russell (SRS) syndromes. 21129773 2011
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 PosttranslationalModification disease BEFREE DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). 20007505 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 GeneticVariation disease BEFREE Hypomethylation of the differentially methylated region (DMR) of the H19 gene and uniparental disomy of maternal chromosome 7 is present in ∼45% of the patients with SRS so more than half of these patients have no known genetic etiology. 20830799 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker disease BEFREE DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). 20007505 2010
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 Biomarker disease BEFREE To review currently available literature on the association between imprinting disorders (Beckwith-Wiedemann syndrome [BWS], Angelman syndrome [AS] and retinoblastoma) and assisted reproductive technology (ART) in humans. 19201275 2009
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 Biomarker disease CTD_human Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. 19066168 2009
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.600 GeneticVariation disease BEFREE Half of all patients with RSS have hypomethylation of the differentially methylated region of the H19 gene on chromosome 11p15.5. 19814617 2009
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 PosttranslationalModification disease LHGDN Constitutional H19 hypermethylation in a patient with isolated cardiac tumor. 18627058 2008
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 GeneticVariation disease BEFREE Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy. 16532391 2006