Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148000791
rs148000791
AHI1
0.010 GeneticVariation 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
dbSNP: rs768608755
rs768608755
PAX3
0.010 GeneticVariation 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
dbSNP: rs77543610
rs77543610
FGFR2
0.010 GeneticVariation BEFREE Overall, S252W and P253R groups showed significantly different numbers of patients with strabismus requiring surgery (p = 0.039), superior rectus muscle underaction (p = 0.024), nasolacrimal duct obstruction (p = 0.0002), and astigmatism (p = 0.005). 17189145

2006
dbSNP: rs79184941
rs79184941
FGFR2
0.010 GeneticVariation BEFREE Compared with patients with the P253R mutation, Apert syndrome patients with the S252W mutation may have more severe ocular phenotypes with a higher likelihood of developing strabismus, especially vertical deviation. 17189145

2006
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518843
rs1057518843
GALC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518848
rs1057518848
TCF4
CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1057518926
rs1057518926
FOXP1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
MPP4
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060499733
rs1060499733
DHX30
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064796765
rs1064796765
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1172486173
rs1172486173
QARS1 ; MIR6890
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 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
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882

2007
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172

2009
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.700 CausalMutation CLINVAR Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815

2008