Condition: Esotropia
rs387907144 in
ARID1B gene and
Esotropia
PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
rs1064793829 in
GATAD2B gene and
Esotropia
PMID 28077840 2017 Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.
rs2244352 in
GET1;GET1-SH3BGR gene and
Esotropia
PMID 30098192 2018 A significant association with nonaccommodative esotropia was discovered (odds ratio [OR] = 1.41, P = 2.84 × 10-09) and replicated (OR = 1.23, P = 0.01) at rs2244352 [T] located within intron 1 of the WRB (tryptophan rich basic protein) gene on chromosome 21 (meta-analysis OR = 1.33, P = 9.58 × 10-11).
rs776095655 in
SLC2A1 gene and
Esotropia
PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
rs1557043622 in
SLC35A2 gene and
Esotropia
PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.