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. 2012 Oct 3;7(10):e46647. doi: 10.1371/journal.pone.0046647

Table 3. Summary of common variants tested.

Common Variants SCZ ASD BAD ID Cilia phenotype Full name Proposed function
ANK3 2018514, 21926974 22521361 18711365, 20351715 21926972, 21926974 ankyrin 3, node of Ranvier (ankyrin G) cytoskeleton
CACNA1C 21926974 15454078 18711365, 21926972 21926974 calcium channel, voltage-dependent, L type, alpha 1C subunit Calcium channel
CCDC68 21926974, 21791550 coiled-coil domain containing 68 unknown
CNNM2 21926974 Ancient conserved domain-containing protein 2 Divalent metal cation transporter
CSMD1 21926974 CUB and Sushi multiple domains 1 Unknown, type I membrane protein
HISTH2BJ 19571808, 19571809 histone cluster 1, H2bj Chromatin structure
IFT88 20713499 11062270 intraflagellar transport 88 homolog Component of intraflagellar transport complex
MIR137 21926974 microRNA 137 Gene regulation
MMP16 21926974 matrix metallopeptidase 16 (membrane-inserted) Endopeptidase for ECM substrates
NEK4 21926972 21926974 21926972, 21926974 19416921 21685204 Serine/threonine-protein kinase Nek4 kinase
NRGN 19571808 21791550 neurogranin Signaling mediator
NOTCH4 1,957,180,819,571,810 notch 4 Signaling receptor
NT5C2 21926974 5′-nucleotidase, cytosolic II Hydrolysis of purine nucleotides
ODZ4 21926972 odz, odd Oz/ten-m homolog 4 (Drosophila) Signal transduction
PGBD1 1,957,180,819,571,810 piggyBac transposable element derived 1 unknown
PRSS16 1957180, 9571809 protease, serine, 16 (thymus) protease
SDCCAG8 21926974 20835237 serologically defined colon cancer antigen 8 Polarity, ciliogenesis
STT3A 21926974 STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) N-glycosylation
TCF4 19571811, 19571808 21926974 :22521361 17478476 20713499 transcription factor 4 Transcription factor, wnt signalling
TRANK1 22182935, 21926972 tetratricopeptide repeat and ankyrin repeat containing 1 unknown
TRIM26 21926974 tripartite motif containing 26 unknown

Numbers indicate Pubmed ID for primary references to disease associations or cilia phenotype, as indicated. Gene name and proposed function are excerpted from the Uniprot database.