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Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.

Investigative ophthalmology & visual science | 2018

To identify genetic variants conferring susceptibility to esotropia. Esotropia is the most common form of comitant strabismus, has its highest incidence in European ancestry populations, and is believed to be inherited as a complex trait.

Pubmed ID: 30098192 RIS Download

Research resources used in this publication

None found

Antibodies used in this publication

None found

Associated grants

  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL098163
  • Agency: NEI NIH HHS, United States
    Id: R01 EY016514
  • Agency: Medical Research Council, United Kingdom
    Id: MR/N004566/1
  • Agency: NEI NIH HHS, United States
    Id: R01 EY015298
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL098153
  • Agency: NHGRI NIH HHS, United States
    Id: HHSN268200782096C
  • Agency: NEI NIH HHS, United States
    Id: R01 EY016835
  • Agency: NIA NIH HHS, United States
    Id: RC2 AG036495
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL098147
  • Agency: NEI NIH HHS, United States
    Id: R01 EY016482
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL098188
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL098162
  • Agency: NHLBI NIH HHS, United States
    Id: HHSN268201100011I
  • Agency: Howard Hughes Medical Institute, United States
  • Agency: NHLBI NIH HHS, United States
    Id: HHSN268201100011C
  • Agency: NEI NIH HHS, United States
    Id: R01 EY027421
  • Agency: NEI NIH HHS, United States
    Id: K08 EY027850
  • Agency: NHLBI NIH HHS, United States
    Id: U01 HL098123
  • Agency: NICHD NIH HHS, United States
    Id: U54 HD090255

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This is a list of tools and resources that we have found mentioned in this publication.


NCBI database of Genotypes and Phenotypes (dbGap) (tool)

RRID:SCR_002709

Database developed to archive and distribute clinical data and results from studies that have investigated interaction of genotype and phenotype in humans. Database to archive and distribute results of studies including genome-wide association studies, medical sequencing, molecular diagnostic assays, and association between genotype and non-clinical traits.

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HaploReg (tool)

RRID:SCR_006796

HaploReg is a tool for exploring annotations of the noncoding genome at variants on haplotype blocks, such as candidate regulatory SNPs at disease-associated loci. Using linkage disequilibrium (LD) information from the 1000 Genomes Project, linked SNPs and small indels can be visualized along with their predicted chromatin state in nine cell types, conservation across mammals, and their effect on regulatory motifs. HaploReg is designed for researchers developing mechanistic hypotheses of the impact of non-coding variants on clinical phenotypes and normal variation.

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LOCUSZOOM (tool)

RRID:SCR_009257

Software application designed to facilitate viewing of local association results together with useful information about a locus, such as the location and orientation of the genes it includes, linkage disequilibrium coefficients and local estimates of recombination rates. It was developed by popular demand, as a result of many questions we have had about How did you make the figures in your talk? or How did you make the figures for your GWAS paper? (entry from Genetic Analysis Software)

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IMPUTE2 (tool)

RRID:SCR_013055

A computer program for phasing observed genotypes and imputing missing genotypes.

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