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GATA2 and familial hypercholesterolemia are reported together in 1 article.
Gene
GATA2
- HGNC
- HGNC:4171
11articles
11mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Familial hypercholesterolemia
- HPO
- HP:0003124
- OMIM
- 143890
165articles
165mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits.
PMID 24786211 | DOI 10.1016/j.gene.2014.04.064 · Gene · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GATA2 | “A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Obesity was associated with the 6-mer CATAAA (χ(2)=3.66; p=0.049), and hypercholesterolemia was linked to the 8-mer CCTGGACC (χ(2)=6.02; p=0.014), but most significantly so with its 5-mer derivative, CTGGA (χ(2)=6.75; p=0.009).” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | coronary artery disease | “A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “The rs1573949_C [1.15(1.00-1.32); p=0.049] was associated with MI, rs7431368_AA [5.2(1.05-26.60); p=0.43] conferred risk for harboring low high density lipoprotein, and obesity was linked to rs10934857_AA [5.69(1.04-30.98); p=0.045] following Bonferroni corrections and multivariate adjustments for confounders.” | 0.98 | phenotype_alias_lexicon_v2 |