×
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
Strabismus
0.110
CausalMutation
CLINVAR
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
28017372 2017
×
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3
Strabismus
0.110
GeneticVariation
CLINVAR
×
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
Strabismus
0.100
GeneticVariation
CLINVAR
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
31134736 2019
×
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
Strabismus
0.100
GeneticVariation
CLINVAR
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
30817854 2019
×
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
Strabismus
0.100
CausalMutation
CLINVAR
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
27108799 2016
×
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
Strabismus
0.100
CausalMutation
CLINVAR
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
26923739 2016
×
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Strabismus
0.100
CausalMutation
CLINVAR
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
27075689 2016
×
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
Strabismus
0.100
GeneticVariation
CLINVAR
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
26637980 2015
×
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Strabismus
0.100
CausalMutation
CLINVAR
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
26350204 2015
×
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
Strabismus
0.100
CausalMutation
CLINVAR
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
25590586 2015
×
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Strabismus
0.100
CausalMutation
CLINVAR
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
22426309 2012
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Strabismus
0.100
CausalMutation
CLINVAR
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
19156172 2009
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Strabismus
0.100
CausalMutation
CLINVAR
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
17981815 2008
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Strabismus
0.100
CausalMutation
CLINVAR
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
18042262 2008
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Strabismus
0.100
CausalMutation
CLINVAR
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
17366577 2007
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Strabismus
0.100
CausalMutation
CLINVAR
Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
17567882 2007
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Strabismus
0.100
CausalMutation
CLINVAR
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
17551924 2007
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Strabismus
0.100
CausalMutation
CLINVAR
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
16439621 2006
×
Entrez Id: 113178
Gene Symbol: SCAMP4
SCAMP4
Strabismus
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Strabismus
0.100
CausalMutation
CLINVAR
×
Entrez Id: 2581
Gene Symbol: GALC
GALC
Strabismus
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
Strabismus
0.100
CausalMutation
CLINVAR
×
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
Strabismus
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
Strabismus
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Strabismus
0.100
GeneticVariation
CLINVAR