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UnknownEnhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.
Not available
S-EPMC5113733 | biostudies-literature
UnknownPopulation variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.
Not available
S-EPMC4406299 | biostudies-literature
TranscriptomicsCopy number variants in candidate genes are genetic modifiers of Hirschsprung disease
Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. The HSCR phenotype is highly variable with respect to gender, segment length of aganglionosis, familiality and the presence of additional anom...
ORGANISM(S): Homo sapiens 
2011-05-06 | E-GEOD-29051 | biostudies-arrayexpress
UnknownEffects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease.
Not available
S-EPMC4258000 | biostudies-literature
GenomicGenetic Analysis of Hirschsprung Disease

Hirschsprung disease (HSCR) is a birth defect resulting from the absence of nerve (ganglion) cells in the gastrointestinal tract. Hirschsprung disease has a population incidence of 1/5,000 live births and most often occurs as an isolated condition. However, approximately 30% of HSCR cases are ass...

phs000497 | dbGaP
GenomicsNational Institute on Aging (NIA) SardiNIA Study

Sardinia is the second largest island in the Mediterranean and constitutes a genetically isolated founder population. This population has aided in the identification of genes involved in several Mendelian disorders and is attractive for genetic studies due to its organization in long-establishe...

phs000338.v1.p1 | EGA
GenomicsTissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure
Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure
PRJNA822789 | ENA
GenomicsSardiNIA Medical Sequencing Discovery Project

The SardiNIA Medical Sequencing Discovery Project is a study of the genetics of blood lipid levels and personality in a Sardinian population cohort. The project will generate draft genome sequences for 1,000 individuals using whole genome shotgun sequencing. The draft sequences will allow investi...

phs000313.v3.p2 | EGA
GenomicsGenetic analysis of Hirschsprung disease

Hirschsprung disease (HSCR) is a birth defect resulting from the absence of nerve (ganglion) cells in the gastrointestinal tract. Hirschsprung disease has a population incidence of 1/5,000 live births and most often occurs as an isolated condition. However, approximately 30% of HSCR cases are ass...

phs000497.v1.p1 | EGA
UnknownAn enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval.
Not available
S-EPMC4121472 | biostudies-literature
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