Skip to main content
. 2017 Jul 24;114(32):8592–8595. doi: 10.1073/pnas.1703764114

Table 1.

Variable numbers (proportion of models in SI Appendix, Tables S1–S15 containing this variable), gene names, and biological function of the retained candidate variables

Variable no. (occurrence rate) Gene name Description and biological function
7235 (0.96) ESYT2-007 Tethers the endoplasmic reticulum to the cell membrane; plays a role in FGF signalling and may play a role in cellular lipid transport
48433 (0.94) LTBP1 Latent transforming growth factor beta binding protein; diseases associated with LTBP1 include geleophysic dysplasia
25125 (0.75) PRR5L Associates with the mTORC2 complex that regulates cellular processes including survival and organization of the cytoskeleton
29679 (0.61) mRNA
48415 (0.61) RP11-542K23.10 RNA gene
25744 (0.61) NDEL1 Plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth, and maintenance
27642 (0.53) SRFBP1 Serum response factor binding protein; may play a role in biosynthesis and/or processing of SLC2A4 in adipose cells
45991 (0.33) MAZ MYC-associated zinc-finger protein
36409 (0.31) SERTAD1 Stimulates E2F1/TFDP1 transcriptional activity
48549 (0.29) COL9A2 Collagen type IX alpha 2 chain; mutations in this gene are associated with multiple epiphyseal dysplasia
44276 (0.27) GLS Plays an essential role in generating energy for metabolism
33385 (0.26) LFNG Encodes evolutionarily conserved glycosyltransferases; mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3
37443 (0.22) WDR20 Regulates the activity of the USP12-UAF1 deubiquitinating enzyme complex
46771 (0.19) PLAGL2 Zinc-finger protein that recognizes DNA and/or RNA
27920 (0.18) ANKRD24 Protein coding gene
25470 (0.14) SPEN Encodes a hormone inducible transcriptional repressor
11643 (0.08) NAT10 Protein coding gene with numerous biological functions

Gene function information was obtained from GeneCards, www.genecards.org.