rs1555817157 in
ABHD12 gene and
Nystagmus
PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
rs778361520 in
ADGRB2 gene and
Nystagmus
PMID 28891236 2017 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.
rs387907144 in
ARID1B gene and
Nystagmus
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.
rs1064795104 in
EXOC6B gene and
Nystagmus
PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
rs752746786 in
GNB1 gene and
Nystagmus
PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
rs80338796 in
RAF1 gene and
Nystagmus
PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
rs121918358 in
SPG7 gene and
Nystagmus
PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
rs748787734 in
TUBB4A gene and
Nystagmus
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.