Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.410 Biomarker HPO

Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.400 CausalMutation CLINVAR

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 Biomarker HPO

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

Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.130 Biomarker HPO

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

Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.120 Biomarker HPO

Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.120 Biomarker HPO

Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.120 Biomarker HPO

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 Biomarker HPO

Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 1890
Gene Symbol: TYMP
TYMP
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 7084
Gene Symbol: TK2
TK2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 2303
Gene Symbol: FOXC2
FOXC2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO

Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker HPO