H3P47, H3 histone pseudogene 47, 115482706

N. diseases: 65; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 GeneticVariation disease BEFREE Five cases of complete HM, diploid with 2 paternal genome sets (CHM;PP), 5 cases of partial HM, triploid with 2 paternal and 1 maternal genome sets (PHM;PPM), and 5 cases of non-HM, with diploid biparental genomes (non-HM;PM) were stained with p57 Abs: 57P06, EP183, KP10, and KP39. 31567274 2019
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 AlteredExpression disease BEFREE Analyses of p57 expression by immunohistochemistry and polymerase chain reaction-based DNA genotyping have emerged as powerful diagnostic methods for accurate classification of hydatidiform moles. 28135560 2017
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 Biomarker disease BEFREE A pilot Placental Molar Diagnostic (PMD) Service was established combining histopathology, p57 immunohistochemistry, and molecular genotyping analysis for both in-house and referred-in cases suspicious for HM or with a preliminary diagnosis of HM. 25851707 2015
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 Biomarker disease BEFREE Characteristics of hydatidiform moles: analysis of a prospective series with p57 immunohistochemistry and molecular genotyping. 23887308 2014
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 Biomarker disease BEFREE In conclusion, combined p57 immunostaining and FISH with a set of 3 CEP probes for chromosomes X, Y, and 17 could be useful in the classification of hydatidiform moles. 24613849 2014
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 Biomarker disease BEFREE Recent studies have demonstrated the value of ancillary techniques, including p57 immunohistochemistry and short tandem repeat genotyping, for distinguishing hydatidiform moles (HM) from nonmolar specimens and for subtyping HMs as complete hydatidiform moles (CHM) and partial hydatidiform moles (PHM). 23370656 2013
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 Biomarker disease BEFREE When pathologists encounter patients with molar pregnancies that are diploid and p57 negative and yet have fetal elements such as nucleated red blood cells or immature fetal tissues, it should heighten their suspicion of a possible genetic basis and appropriate molecular genetic workup performed with counseling offered. 23722513 2013
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 AlteredExpression disease BEFREE Here, we describe a first trimester abortus with morphologic features consistent with a hydatidiform mole and p57 expression pattern supporting a diagnosis of PHM. 22123726 2012
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 AlteredExpression disease BEFREE The unique genetic features of CHMs (androgenetic diploidy), PHMs (diandric triploidy), and nonmolar specimens (biparental diploidy) allow for certain molecular techniques, including immunohistochemical analysis of p57 expression (a paternally imprinted maternally expressed gene) and molecular genotyping, to refine the diagnosis of hydatidiform moles. 21293291 2011
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole
0.100 Biomarker disease BEFREE We recommend use of p57 immunohistochemistry and molecular genotyping to evaluate all products of conception specimens for which there is any consideration of a diagnosis of hydatidiform mole. 19542869 2009