Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518843
rs1057518843
GALC
CUI: C0038379
Disease: Strabismus
Strabismus 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518848
rs1057518848
TCF4
CUI: C0038379
Disease: Strabismus
Strabismus 		CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1057518926
rs1057518926
FOXP1
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0038379
Disease: Strabismus
Strabismus 		T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519429
rs1057519429
CACNA1A
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
CUI: C0038379
Disease: Strabismus
Strabismus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
MPP4
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1060499733
rs1060499733
DHX30
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1064796765
rs1064796765
DYNC1H1
CUI: C0038379
Disease: Strabismus
Strabismus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0038379
Disease: Strabismus
Strabismus 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
CUI: C0038379
Disease: Strabismus
Strabismus 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1172486173
rs1172486173
QARS1 ; MIR6890
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs121908595
rs121908595
MAP2K1
CUI: C0038379
Disease: Strabismus
Strabismus 		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
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs121908595
rs121908595
MAP2K1
CUI: C0038379
Disease: Strabismus
Strabismus 		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
dbSNP: rs121908595
rs121908595
MAP2K1
CUI: C0038379
Disease: Strabismus
Strabismus 		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
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 CausalMutation CLINVAR Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882

2007
dbSNP: rs121908595
rs121908595
MAP2K1
CUI: C0038379
Disease: Strabismus
Strabismus 		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
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586

2015
dbSNP: rs1276519904
rs1276519904
H3-3A
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1325394060
rs1325394060
HUWE1
CUI: C0038379
Disease: Strabismus
Strabismus 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
CUI: C0038379
Disease: Strabismus
Strabismus 		C 0.700 CausalMutation CLINVAR