Gene: GSDME

Alternate names for this Gene: DFNA5|ICERE-1

Gene Summary: Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7p15.3

Description of this Gene: gasdermin E

Type of Gene: protein-coding

rs17150022 in GSDME gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs754554 in GSDME gene and Cerebrovascular accident PMID 23422753 2013 Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.

rs374353052 in GSDME gene and DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) PMID 30828794 2019 Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

rs2721811 in GSDME gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs12154597 in GSDME gene and Schizophrenia PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.

PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

rs12979 in GSDME gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs2237318 in GSDME gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.