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 CLINVAR
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease CTD_human
Entrez Id: 57224
Gene Symbol: NHSL1
NHSL1
0.010 Biomarker disease BEFREE NHS and NHSL1 lie in paralogous duplicated chromosomal intervals on Xp22 and 6q24, and NHSL1 is more broadly expressed than NHS in human fetal tissues. 15466011 2004
Entrez Id: 4810
Gene Symbol: NHS
NHS
1.000 Biomarker disease GENOMICS_ENGLAND A locus for isolated cataract on human Xp. 11836358 2002
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 Biomarker disease GENOMICS_ENGLAND A Turkish family with Nance-Horan Syndrome due to a novel mutation. 23566852 2013
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: 4810
Gene Symbol: NHS
NHS
1.000 GeneticVariation disease BEFREE Affected individuals have mutations in the NHS (Nance-Horan syndrome) gene typically resulting in premature truncation of the protein. 16675532 2006
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: 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: 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: 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: 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: 10742
Gene Symbol: RAI2
RAI2
0.020 GeneticVariation disease BEFREE Direct sequencing of the RAI2 gene and predicted promoter region has revealed no mutations in the families screened; RAI2 is therefore unlikely to be associated with NHS. 10394933 1999
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: 5475
Gene Symbol: PPEF1
PPEF1
0.010 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: 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: 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: 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 MGD Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus. 2272505 1991
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: 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 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: 6573
Gene Symbol: SLC19A1
SLC19A1
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 Biomarker disease MGD Lens development in a dominant X-linked congenital cataract of the mouse. 8282045 1993