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. 2009 Oct 15;18(R2):R146–R155. doi: 10.1093/hmg/ddp412

Table 3.

Ciliary genes associated with thermo/mechanosensory deficits

Ciliary genes Phenotype Associated disorder Reference
Gabrb3 Increased nociception Autism (108,109)
Gabbr1 Increased nociception (hyporesponsive mechanosensation) Epilepsy (110,111)
Dbh Increased nociception ADHD (112)
Anxa1 Increased nociception
Uchl1 Increased nociception PD (102)
Ncam1 Increased nociception Bipolar disorder (113)
Kcnk2 Increased nociception
Kcna1 Decreased nociception
Htr1b Increased nociception
Gria2 Increased nociception
Gnao1 Decreased nociception
Syn2 Decreased nociception Susceptibility to schizophrenia (102,114)
Slc6a1 Decreased nociception
Slc12a5 Decreased nociception
Slc12a2 Decreased nociception Deafness (115)
Scn9a Increased nociception Erythermalgia/paroxysmal extreme pain disorder (116118)
Scn10a Decreased nociception
Prkar1b Decreased nociception
Plcb4 Decreased nociception
Npepps Increased nociception
Kif1a Decreased nociception
Hmox2 Decreased nociception
Gucy1b3 Decreased nociception
Fmr1 Decreased nociception Fragile X mental retardation (119121)
Faah Decreased nociception Obesity (122)
Dlg2 Decreased nociception
Camk2a Decreased nociception
Cacna1h Decreased nociception Epilepsy (123125)
Cacna1b Decreased nociception
Bbs4 Decreased nociception BBS (18)
Bbs1 Decreased nociception BBS (18)
Fxr2 Increased thermosensation
Gria3 Increased thermosensation
Atp1a2 Unresponsive mechanosensation Familial hemiplegic migraine (126)
Bbs2 Hyporesponsive mechanosensation BBS (105)
Cacna1a Hyporesponsive mechanosensation SCA6 (7981)
Flnc Hyporesponsive mechanosensation
Gna11 Hyporesponsive mechanosensation
Gnaq Hyporesponsive mechanosensation
Madd Hyporesponsive mechanosensation
Snap25 Unresponsive mechanosensation ADHD (127)
Ncs1 Thermosensationtaxis
Unc97 Abnormal mechanosensation
Sptlc1 Decreased nociception Neuropathy type I/HSAN1 (7176)
Ikbkap Decreased nociception Neuropathy type III/ HSAN3 (77,78)