Gene: DSCAM

Alternate names for this Gene: CHD2|CHD2-42|CHD2-52

Gene Summary: This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.2

Description of this Gene: DS cell adhesion molecule

Type of Gene: protein-coding

rs9980603 in DSCAM gene and Anxiety PMID 24047446 2013 Genome-wide association study of co-occurring anxiety in major depression.

rs7282525 in DSCAM gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2249498 in DSCAM gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs2249498 in DSCAM gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30958311 2019 Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

rs1369501286 in DSCAM gene and Dysmorphic features PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 26401017 2015 Low load for disruptive mutations in autism genes and their biased transmission.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 26749308 2016 Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

rs727333 in DSCAM gene and Estradiol level result PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

rs727333 in DSCAM gene and Estradiol measurement PMID 23518928 2013 TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

rs455489 in DSCAM gene and Fasting blood glucose measurement PMID 31170924 2019 Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females.

rs727333 in DSCAM gene and Intracranial Aneurysm PMID 30823506 2019 Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.

rs2837554 in DSCAM gene and Kidney Failure, Chronic PMID 31178898 2019 Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.

rs9980603 in DSCAM gene and Major Depressive Disorder PMID 24047446 2013 Genome-wide association study of co-occurring anxiety in major depression.

rs2837828 in DSCAM gene and Neutrophil count (procedure) PMID 21507922 2011 Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.