Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.120 Biomarker disease BEFREE A total of 13 patients with genetically confirmed CFEOM (via genetic testing for mutations in KIF21A, PHOX2A, and TUBB3) were retrospectively identified after undergoing strabismus surgery at Boston Children's Hospital and surgical outcomes were compared. 31541710 2019
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.120 GeneticVariation disease BEFREE Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. 17511870 2007
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.120 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.110 GeneticVariation disease BEFREE We identify strabismus candidate genes for 5 of the 15 reported loci (CHD7; SLC9A6; COL18A1, COL6A2; FRY, BRCA2, SPG20; PARK2). 30772522 2019
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1
0.110 Biomarker disease BEFREE Children with TRPM1-associated cCSNB presented before school age with progressive myopia as well as strabismus and nystagmus (but not nyctalopia), with stable, electronegative ffERG results, mildly subnormal full-field stimulus threshold testing results, and a constricted I2e isopter on perimetry. 29522070 2018
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.110 GeneticVariation disease BEFREE Our results report that the c.434G-T mutation (p.R145L) in PAX3 may contribute to strabismus, expanding our understanding of the causally relevant genes for this disorder. 28861346 2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
0.110 GeneticVariation disease BEFREE Therefore, we concluded that AHI1 c.3257A>G and NEB c.914 A>G were potential causal variants in this strabismus pedigree. 28391287 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
0.110 GeneticVariation disease BEFREE Mutations in early B cell factor 3 (<i>EBF3</i>) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. 29062322 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
0.110 CausalMutation disease CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3
0.110 Biomarker disease BEFREE ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus. 26842963 2016
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
0.110 Biomarker disease BEFREE While strabismus and optic nerve pallor have been reported for PLA2G6-related disease, the ophthalmic phenotype is not carefully defined. 24522175 2014
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
0.110 GeneticVariation disease BEFREE Homozygosity mapping and exome sequencing in two affected siblings of a consanguineous family with mild intellectual disability, spastic paraplegia, and strabismus revealed a homozygous premature stop mutation at codon 139 of C12ORF65. 24080142 2013
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
0.110 GeneticVariation disease BEFREE Detailed clinical description showed that all four individuals with a GATAD2B aberration had a distinctive phenotype with childhood hypotonia, severe intellectual disability, limited speech, tubular shaped nose with broad nasal tip, short philtrum, sparse hair and strabismus. 23644463 2013
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
0.110 GeneticVariation disease BEFREE Patients with fukutin-related protein gene mutation tend to have no or mild eye involvement (generally strabismus), with very few cases reported of moderate to severe eye involvement. 24139536 2013
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
0.110 GeneticVariation disease BEFREE Strabismus segregated with the CHN1 locus and affected individuals harbored a c.443A>T CHN1 mutation (p.Y148F). 21715346 2011
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
0.110 GeneticVariation disease BEFREE She also had a constant exotropia, so we examined the PHOX2B gene associated with both schizophrenia and strabismus, and detected a 5-alanine deletion. 21881099 2011
Entrez Id: 23064
Gene Symbol: SETX
SETX
0.110 Biomarker disease BEFREE Strabismus is therefore also very suggestive of AOA2 when associated with ataxia and polyneuropathy even in the absence of OMA. 19141356 2009
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.110 GeneticVariation disease BEFREE OPHN1 mutations cause a syndromic form of mental retardation (MR) characterized by cerebellar hypoplasia, early hypotonia, motor and speech delay, with occasional seizures and strabismus. 18512229 2008
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
0.110 GeneticVariation disease BEFREE Congenital stationary night blindess-2 (incomplete congenital stationary night blindness (iCSNB) or CSNB-2) is a nonprogressive, X-linked retinal disease which can lead to clinical symptoms such as myopia, hyperopia, nystagmus, strabismus, decreased visual acuity, and impaired scotopic vision. 17949918 2007
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.110 Biomarker disease BEFREE APC, AXIN, NKD1, NKD2, and Strabismus (STB1, STB2) are negative regulators of WNT - beta-catenin pathway. 12011973 2002
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
0.110 Biomarker disease HPO
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
0.110 Biomarker disease HPO
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.110 Biomarker disease HPO
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
0.110 Biomarker disease HPO
Entrez Id: 23064
Gene Symbol: SETX
SETX
0.110 Biomarker disease HPO