Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 213
Gene Symbol: ALB
ALB
0.010 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: 265
Gene Symbol: AMELX
AMELX
0.010 Biomarker disease BEFREE Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome. 7553384 1995
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
0.010 GeneticVariation disease BEFREE A UK collaborative 1-day pilot information and support forum facilitated by a national breast cancer charity and NHS cancer genetic counsellors, for women at high risk, BRCA 1/2 gene carriers and hereditary breast cancer. 21838724 2011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.020 GeneticVariation disease BEFREE Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. 17256798 2007
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.020 GeneticVariation disease BEFREE Direct sequencing or SSCP analysis of the coding exons of five genes (SCML1, SCML2, STK9, RS1 and PPEF1), considered as candidate genes on the basis of their location in the critical interval, failed to detect any mutation in 12 unrelated NHS patients, thus making it highly unlikely that these genes are implicated in NHS. 12173028 2002
Entrez Id: 3297
Gene Symbol: HSF1
HSF1
0.010 Biomarker disease BEFREE Although most interactions between HSF1 binding sites and target promoters were established in the nonheat shock (NHS) condition, a subset increased contact frequency following HS. 31506350 2019
Entrez Id: 3694
Gene Symbol: ITGB6
ITGB6
0.010 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: 378938
Gene Symbol: MALAT1
MALAT1
0.010 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: 4580
Gene Symbol: MTX1
MTX1
0.010 Biomarker disease BEFREE Independent revertant subclones, obtained following growth in the absence of selection pressure, showed four- to 12-fold decreases in [3H]MTX influx Vmax and in amount of NHS (N-hydroxysuccinimide)-[3H]MTX affinity labeled one-carbon, reduced folate transporter compared to L1210/R83 cells. 9689927 1998
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 GeneticVariation disease CLINVAR
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 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 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 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 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
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 GeneticVariation disease BEFREE We investigated the NHS gene in four additional families with NHS from the Netherlands, by dHPLC and direct sequencing. 16736028 2006
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 Biomarker disease BEFREE Independent revertant subclones, obtained following growth in the absence of selection pressure, showed four- to 12-fold decreases in [3H]MTX influx Vmax and in amount of NHS (N-hydroxysuccinimide)-[3H]MTX affinity labeled one-carbon, reduced folate transporter compared to L1210/R83 cells. 9689927 1998
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 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 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 BEFREE The NHS gene forms a new gene family with a closely related novel gene NHS-Like1 (NHSL1). 15466011 2004
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