NADSYN1, NAD synthetase 1, 55191

N. diseases: 14; N. variants: 11
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 		0.300 Biomarker group GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644 2020
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker group GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644 2020
CUI: C0426706
Disease: Absent kidney
Absent kidney 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644 2020
CUI: C0426706
Disease: Absent kidney
Absent kidney 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644 2020
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.140 GeneticVariation disease BEFREE Variants of NADSYN1/DHCR7 were significantly associated with 25(OH)D concentrations among pregnant women without vitamin D supplements. 29153269 2018
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.140 GeneticVariation disease BEFREE To date, at least 3 candidate genes, vitamin D binding protein (VDBP) gene (GC), 25-hydroxylase (CYP2R1), and 7-dehydrocholesterol reductase/NAD synthetase 1 (DHCR7/NADSYN1), have been associated with serum 25-hydroxyvitamin D (25[OH]D) levels, but their influences on the prevalence of vitamin D deficiency in relation to other known risk factors have not been clearly defined. 25370324 2015
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.140 GeneticVariation disease BEFREE Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations. 26149120 2015
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.140 GeneticVariation disease BEFREE Although this is a small study, our findings suggest that VDR, NADSYN1, and GC polymorphisms may be linked to the manifestation of vitamin D deficiency in Japanese children. 22785457 2012
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.140 GeneticVariation disease GWASDB Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 20541252 2010
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		0.140 GeneticVariation disease GWASCAT Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 20541252 2010
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels. 29343764 2018
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.100 GeneticVariation phenotype GWASCAT Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations. 29325163 2018
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.100 GeneticVariation phenotype GWASCAT Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations. 29325163 2018
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels. 29343764 2018
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.100 GeneticVariation phenotype GWASCAT Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis. 28757204 2017
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.100 GeneticVariation phenotype GWASCAT Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis. 28757204 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338 2015
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of circulating vitamin D levels. 20418485 2010
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of circulating vitamin D levels. 20418485 2010
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of circulating vitamin D levels. 20418485 2010
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of circulating vitamin D levels. 20418485 2010
CUI: C0262586
Disease: Osteopenia/osteoporosis
Osteopenia/osteoporosis 		0.010 GeneticVariation disease BEFREE Moreover, an association was observed for the variants rs3794060 and rs4944957 of the DHCR7/NADSYN1 gene with osteopenia/osteoporosis. 30150596 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 GeneticVariation disease BEFREE SNPs in the DHCR7/NADSYN1 locus showed evidence of positive association with RA, rs4944076 (P=0.008, odds ratio (OR) 1.14, 95% confidence interval (CI) 1.03-1.24). 23636220 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 GeneticVariation group BEFREE Recent genome-wide association studies have identified the rs1790349 and rs12785878 single-nucleotide polymorphisms (SNPs), present in the NADSYN1/DHCR7 locus, as an influential player on circulating 25-hydroxyvitamin D [25(OH)D] levels, which itself has been linked to various diseases including cardiovascular disease (CVD). 24642724 2013
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence. 24642724 2013