EXOSC4, exosome component 4, 54512

N. diseases: 6; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76234559
rs76234559
Entrez Id: 54512
Gene Symbol: EXOSC4
EXOSC4
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs142724505
rs142724505
Entrez Id: 54512
Gene Symbol: EXOSC4
EXOSC4
CUI: C0852036
Disease:
Pregnancy associated hypertension
0.010 GeneticVariation BEFREE In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 39; preeclampsia n = 27; eclampsia n = 5; HELLP n = 32] and 100 controls were analyzed for the LEP tetranucleotide repeat (TTTC)(n) and the leptin receptor (LEPR) R223Q and PPARgamma2 P12A substitutions. 20070288 2010
dbSNP: rs142724505
rs142724505
Entrez Id: 54512
Gene Symbol: EXOSC4
EXOSC4
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin receptor gene (LEPR Q223R, K109R, and K656N), and the peroxisome proliferator-activated receptor-gamma gene (PPARG P12A and C161T)--have been investigated as possible factors associated with obesity. 15972940 2005
dbSNP: rs782487570
rs782487570
Entrez Id: 54512;102465510
Gene Symbol: EXOSC4;MIR6847
EXOSC4;MIR6847
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin receptor gene (LEPR Q223R, K109R, and K656N), and the peroxisome proliferator-activated receptor-gamma gene (PPARG P12A and C161T)--have been investigated as possible factors associated with obesity. 15972940 2005