Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.400 CausalMutation CLINVAR

Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.130 CausalMutation CLINVAR

Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.120 GeneticVariation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 CausalMutation CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 CausalMutation CLINVAR

Entrez Id: 84294
Gene Symbol: UTP23
UTP23
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR

Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR

Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR

Entrez Id: 1144
Gene Symbol: CHRND
CHRND
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation CLINVAR