Gene: ILDR1

Alternate names for this Gene: DFNB42|ILDR1alpha|ILDR1alpha'|ILDR1beta

Gene Summary: This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q13.33

Description of this Gene: immunoglobulin like domain containing receptor 1

Type of Gene: protein-coding

rs1806656 in ILDR1 gene and Asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs2332036 in ILDR1 gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1806656 in ILDR1 gene and Childhood asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs372564314 in ILDR1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) PMID 21255762 2011 Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

rs113229608 in ILDR1 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2255214 in ILDR1 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

PMID 26819262 2016 Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis.

PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

PMID 27386562 2016 Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.