NHS, NHS actin remodeling regulator, 4810

N. diseases: 295; N. variants: 26
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene. 24968223 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). 22229851 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly. 21559051 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR X-linked cataract and Nance-Horan syndrome are allelic disorders. 19414485 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands. 16736028 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR A locus for isolated cataract on human Xp. 11836358 2002