Disease: Blepharoptosis ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 CausalMutation disease CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116 2009
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 CausalMutation disease CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853 2005
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 CausalMutation disease CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.110 CausalMutation disease CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002