HOMER2, homer scaffold protein 2, 9455

N. diseases: 29; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309524
rs864309524
Entrez Id: 9455
Gene Symbol: HOMER2
HOMER2
CUI: C4225240
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 68 		0.800 GeneticVariation UNIPROT HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. 25816005 2015
dbSNP: rs864309524
rs864309524
Entrez Id: 9455
Gene Symbol: HOMER2
HOMER2
CUI: C4225240
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 68 		G 0.800 CausalMutation CLINVAR
dbSNP: rs7182990
rs7182990
Entrez Id: 9455
Gene Symbol: HOMER2
HOMER2
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2046071
rs2046071
Entrez Id: 9455
Gene Symbol: HOMER2
HOMER2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1256429
rs1256429
Entrez Id: 9455
Gene Symbol: HOMER2
HOMER2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE The SNP rs1256429 (HOMER2) was one of the top hits in Hyperlasso as well as in the single-SNP analysis showing an association with the volume of the right thalamus and AD, a brain region reported to be linked with AD in several studies. 25649652 2015