Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556039406
rs1556039406
NHS
T 0.700 CausalMutation CLINVAR Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene. 24968223

2014
dbSNP: rs1556039406
rs1556039406
NHS
T 0.700 CausalMutation CLINVAR Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). 22229851

2012
dbSNP: rs1556039406
rs1556039406
NHS
T 0.700 CausalMutation CLINVAR The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly. 21559051

2011
dbSNP: rs1556039406
rs1556039406
NHS
T 0.700 CausalMutation CLINVAR X-linked cataract and Nance-Horan syndrome are allelic disorders. 19414485

2009
dbSNP: rs1556039406
rs1556039406
NHS
T 0.700 CausalMutation CLINVAR New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. 16736028

2006
dbSNP: rs1556039406
rs1556039406
NHS
T 0.700 CausalMutation CLINVAR Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. 14564667

2003
dbSNP: rs1556039406
rs1556039406
NHS
T 0.700 CausalMutation CLINVAR A locus for isolated cataract on human Xp. 11836358

2002