Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518957
rs1057518957
CHRND
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518958
rs1057518958
CHRND
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499549
rs1060499549
ZNF462
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503383
rs1060503383
SYNGAP1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs118192177
rs118192177
RYR1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913378
rs121913378
BRAF
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121913528
rs121913528
KRAS
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
dbSNP: rs121918455
rs121918455
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853

2005
dbSNP: rs121918455
rs121918455
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs121918455
rs121918455
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918459
rs121918459
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121918460
rs121918460
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1331463984
rs1331463984
TRAF7
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137852813
rs137852813
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011
dbSNP: rs137852813
rs137852813
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980

2010
dbSNP: rs137852813
rs137852813
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
dbSNP: rs137852813
rs137852813
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs137852813
rs137852813
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
dbSNP: rs137852813
rs137852813
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs146539065
rs146539065
SEPSECS
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554442015
rs1554442015
TWIST1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		A 0.700 CausalMutation CLINVAR