Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0038379
Disease: Strabismus
Strabismus 		0.110 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0038379
Disease: Strabismus
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: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882

2007
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0038379
Disease: Strabismus
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: 5831
Gene Symbol: PYCR1
PYCR1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 22907
Gene Symbol: DHX30
DHX30
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0038379
Disease: Strabismus
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
CUI: C0038379
Disease: Strabismus
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: 23126
Gene Symbol: POGZ
POGZ
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0038379
Disease: Strabismus
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: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR