Gene: SMOC1

Alternate names for this Gene: OAS

Gene Summary: This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.2

Description of this Gene: SPARC related modular calcium binding 1

Type of Gene: protein-coding

rs1958078 in SMOC1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1547088 in SMOC1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs227425 in SMOC1 gene and Bone Density PMID 24249740 2014 Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.

rs227425 in SMOC1 gene and Bone Mineral Density Test PMID 24249740 2014 Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.

rs10782458 in SMOC1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs1958078 in SMOC1 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11627546 in SMOC1 gene and Mean Corpuscular Volume (result) PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs1958078 in SMOC1 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs227448 in SMOC1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1958078 in SMOC1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs227426 in SMOC1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7156508 in SMOC1 gene and Triglycerides measurement PMID 30108155 2018 Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.

rs1365818420 in SMOC1 gene and Waardenburg Anophthalmia Syndrome PMID 21750680 2011 Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

PMID 21194678 2011 SMOC1 is essential for ocular and limb development in humans and mice.

PMID 21194680 2011 Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

PMID 23646827 2013 Mutations in ALDH1A3 cause microphthalmia.

PMID 28085523 2017 A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.