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. 2021 Dec 10;16(1):1268–1277. doi: 10.1515/biol-2021-0129

Table 2.

The information of the top seven genes

Gene Location on a chromosome The information of variants Reference gene Sample gene Mutations The number of samples GO_CC GO_BP GO_MF KEGG
TLR2 4q31.3 Heterozygous/exon/pathogenic C T c.1339C>T II:3/III:2 + + + +
TLR4 9q33.1 Heterozygous/exon/pathogenic G A c.820G>A, etc II:3/III:2 + + +
CD36 7q21.11 Heterozygous/exon/pathogenic C T c.1039C>T, etc II:2/II:4 + + +
FKBP6 7q11.23 Heterozygous/exon/likely pathogenic C T c.201C>T, etc I:2/II:5 + +
CD46 1q32.2 Heterozygous/exon/pathogenic C T c.38C>T, etc II:4 + + +
ITGB5 3q21.2 Heterozygous/exon/dominant inheritance A G c.608T>C I:2/II:2/II:4/II:5/III:2 +
KEL 7q34 Heterozygous/exon/pathogenic T A c.1481A>T II:2,II:4,III:2 + + +

“+”: the gene is expressed in this pathway.

“–”: the gene is not expressed in this pathway.