Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome. 30642278 2019
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease BEFREE First, albumin was conjugated with ADIBO-NHS (albumin-ADIBO) by reacting albumin with various molar ratios of ADIBO. 31281486 2019
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease BEFREE All cases of pre-invasive penile, anal, vulval, and vaginal disease diagnosed in 1990-2015 were identified within the NHS pathology databases in the two largest NHS health boards in Scotland. 30650180 2019
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE Patient access information was gathered from the health boards and from contacting dental practices where this information was not available.Results It was found that, on average, only 15% of all NHS practices in Wales were accepting adult NHS patients in 2017-2018 and 21% of all NHS practices had waiting lists. 31253919 2019
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease BEFREE The functionalization of the gold coated multi-walled carbon nanotube (MWCNT) structures of the BP electrodes is achieved by 3-mercaptopropionic acid surface modification to possess negatively charged carboxylic groups and subsequently followed by EDC/Sulfo-NHS (1-Ethyl-3-(3-dimethylaminopropyl) carbodiimide hydrochloride and N-Hydroxysulfosuccinimide) crosslinking with BODx. 30397324 2018
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease BEFREE The poly(γ-glutamic acid)-NHS (γ-PGA-NHS) esters were used to endow collagen with both of excellent water-solubility and thermal stability via cross-linking reaction between γ-PGA-NHS and collagen. 29425869 2018
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE A novel small deletion in the NHS gene associated with Nance-Horan syndrome. 29402928 2018
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. 29358614 2018
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling. 28922055 2018
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE This research broadens the spectrum of NHS gene mutations, contributing to our understanding of the molecular genetics of NHS. 28061824 2017
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons. 28557584 2017
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease BEFREE Conjugation of Cy5.5 to MALAT1 ASO was accomplished using standard NHS (N-hydroxysuccinimide) ester procedures, and the labelled MALAT1 ASO was purified with a Glen-Pak DNA Purification Cartridge and reversed-phase high performance liquid chromatography (HPLC). 29156758 2017
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients. 25266737 2015
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE The male proband of Family 2 was homozygous for an ITGB6 transition mutation in Exon 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-Horan Syndrome (NHS Xp22.13; g.355444T > C c.1697T > C p.Met566Thr). 24305999 2014
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 CausalMutation disease CLINVAR Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene. 24968223 2014
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease GENOMICS_ENGLAND A Turkish family with Nance-Horan Syndrome due to a novel mutation. 23566852 2013
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE The duplication at Xp22.2-22.13 involved the NHS gene causative for Nance-Horan syndrome, which is an X-linked disorder showing similar clinical features with OFCD in affected males, and in carrier females with milder presentation. 22301464 2012
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE Our findings are in line with several recent case reports to indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS. 20882036 2011
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS gene. 21559051 2011
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GermlineCausalMutation disease ORPHANET The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology. 20332100 2010
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease CLINGEN The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology. 20332100 2010
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this X-linked genetic disorder. 18949062 2008
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 CausalMutation disease CLINVAR Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this X-linked genetic disorder. 18949062 2008
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease CLINGEN Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this X-linked genetic disorder. 18949062 2008
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE The purpose of this study was to identify the frequency and distribution of NHS gene mutations and compare genotype with Nance-Horan phenotype in five North American NHS families. 17417607 2007