Gene: ASH1L

Alternate names for this Gene: ASH1|ASH1L1|KMT2H|MRD52

Gene Summary: This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions.

Gene is located in Chromosome: 1

Location in Chromosome : 1q22

Description of this Gene: ASH1 like histone lysine methyltransferase

Type of Gene: protein-coding

rs10796944 in ASH1L gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs12734374 in ASH1L gene and Lewy Body Disease PMID 31065058 2019 GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.

rs1293246328 in ASH1L gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 28394464 2017 Novel MCA/ID syndrome with ASH1L mutation.

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

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

rs12734374 in ASH1L gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs80142782 in ASH1L gene and Stomach Carcinoma PMID 26701879 2017 Identification of new susceptibility loci for gastric non-cardia adenocarcinoma: pooled results from two Chinese genome-wide association studies.

rs6696888 in ASH1L gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

rs7514174 in ASH1L 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.