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Human Gene Search Results


Unique ID Gene Symbol Gene Name Chromosome Loc Genetic Category Gene Ranking Biallelic # of Variants Associated Disorders # of Reports Primary Reference Display
GEN988 ABCA13 ATP binding cassette subfamily A member 13 7p12.3 Rare single gene variant
3
8 6 Neale BM , et al. 2012 Edit
GEN1087 ACTL6B actin like 6B 7q22.1 Rare single gene variant
2
Yes 39 9 Bell S , et al. 2019 Edit
GEN471 ADNP Activity-dependent neuroprotector homeobox 20q13.13 Rare Single Gene variant
5
129 53 O'Roak BJ , et al. 2012 Edit
GEN003 ADORA2A adenosine A2a receptor 22q11.23 Genetic association
2 7 Freitag CM , et al. 2009 Edit
GEN008 AHI1 Abelson helper integration site 1 6q23.3 Rare Single Gene variant
2
27 19 Alvarez Retuerto AI , et al. 2008 Edit
GEN009 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) 6p22.3 Syndromic
2
Yes 11 12 Pearl PL , et al. 2003 Edit
GEN981 AMBRA1 autophagy and beclin 1 regulator 1 11p11.2 Functional
3 4 Dere E , et al. 2014 Edit
GEN587 ANK2 Ankyrin 2, neuronal 4q25-q26 Rare Single Gene variant
5
175 18 Iossifov I , et al. 2012 Edit
GEN011 ANKRD11 ankyrin repeat domain 11 16q24.3 Rare Single Gene variant
4
78 51 Marshall CR , et al. 2008 Edit
GEN673 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 Rare single gene variant
2
23 4 Li J , et al. 2015 Edit
GEN012 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 15q13.1 Rare Single Gene variant
3
11 7 Babatz TD , et al. 2009 Edit
GEN013 APC adenomatosis polyposis coli 5q22.2 Genetic Association
2 9 Barber JC , et al. 1994 Edit
GEN570 APP Amyloid beta (A4) precursor protein 21q21.3 Functional
0 3 Bailey AR , et al. 2013 Edit
GEN816 ARHGAP32 Rho GTPase activating protein 32 11q24.3 Multigenic CNV
2
24 7 Akshoomoff N , et al. 2014 Edit
GEN713 ARHGAP33 Rho GTPase activating protein 33 19q13.12 Functional
2
2 3 Schuster S , et al. 2015 Edit
GEN1007 ARHGEF10 Rho guanine nucleotide exchange factor 10 8p23.3 Rare single gene variant
2
7 5 Lu DH , et al. 2018 Edit
GEN357 ARID1B AT-rich interaction domain 1B 6q25.3 Rare single gene variant
5
147 56 Nord AS , et al. 2011 Edit
GEN016 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 15q25.1 Syndromic
2
8 13 Chakrabarti B , et al. 2009 Edit
GEN017 ARX aristaless related homeobox Xp21.3 Rare single gene variant
3
42 20 Sherr EH 2003 Edit
GEN642 ASH1L Ash1 (absent, small, or homeotic)-like (Drosophila) 1q22 Rare single gene variant
5
133 20 Willsey AJ , et al. 2013 Edit
GEN939 ASPM abnormal spindle microtubule assembly 1q31.3 Syndromic
4
58 8 Iossifov I et al. 2014 Edit
GEN623 ATG7 Autophagy related 7 3p25.3 Functional
2
Yes 14 8 Tang G , et al. 2014 Edit
GEN829 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19q13.2 Syndromic
3
35 18 Demos MK , et al. 2014 Edit
GEN273 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 3p25.3 Genetic Association
3
14 10 Carayol J , et al. 2011 Edit
GEN831 ATP8A1 ATPase phospholipid transporting 8A1 4p13 Rare single gene variant
2
2 3 Kerr DJ , et al. 2016 Edit
GEN411 ATRNL1 Attractin-like 1 10q25.3 Rare single gene variant
2
5 4 Stark Z , et al. 2010 Edit
GEN022 AUTS2 autism susceptibility candidate 2 7q11.22 Rare Single Gene variant
4
92 44 Sultana R , et al. 2002 Edit
GEN788 AVP Arginine vasopressin 20p13 Functional
2 4 Feifel D , et al. 2009 Edit
GEN023 AVPR1A arginine vasopressin receptor 1A 12q14.2 Rare Single Gene variant, Genetic Association
0
37 24 Yirmiya N , et al. 2006 Edit
GEN024 BAIAP2 BAI1-associated protein 2 17q25.3 Genetic Association
0
6 12 Toma C , et al. 2010 Edit
GEN423 BCKDK Branched chain ketoacid dehydrogenase kinase 16p11.2 Rare single gene variant
2
Yes 8 5 Novarino G , et al. 2012 Edit
GEN643 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 2p16.1 Rare single gene variant
3
37 21 Iossifov I , et al. 2012 Edit
GEN625 BDNF Brain-derived neurotrophic factor 11p14.1 Functional
1 12 Kyzar EJ , et al. 2012 Edit
GEN820 BRINP1 BMP/retinoic acid inducible neural specific 1 9q33.1 Functional
0 2 Kobayashi M , et al. 2014 Edit
GEN1219 BRINP3 BMP/retinoic acid inducible neural specific 3 1q31.1 Functional
Yes 2 2 Schmitz-Abe K et al. 2020 Edit
GEN408 CACNA1B calcium voltage-gated channel subunit alpha1 B 9q34.3 Genetic association
2
23 9 Yatsenko SA , et al. 2012 Edit
GEN031 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 Syndromic
4
64 48 Splawski I , et al. 2004 Edit
GEN033 CACNA1F calcium channel, voltage-dependent, alpha 1F Xp11.23 Genetic Association
2
7 8 Strom TM , et al. 1998 Edit
GEN034 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 17q21.33 Genetic Association
2
37 20 Strom SP , et al. 2009 Edit
GEN035 CACNA1H calcium channel, voltage-dependent, alpha 1H subunit 16p13.3 Rare Single Gene variant
3
36 27 Splawski I , et al. 2006 Edit
GEN656 CACNA2D3 Calcium channel, voltage-dependent, alpha 2/delta subunit 3 3p21.1-p14.3 Rare single gene variant
4
44 8 Iossifov I , et al. 2012 Edit
GEN036 CADM1 cell adhesion molecule 1 11q23.3 Rare Single Gene variant
2
6 10 Zhiling Y , et al. 2008 Edit
GEN037 CADPS2 Ca2+-dependent activator protein for secretion 2 7q31.32 Rare Single Gene variant
2
23 12 Cisternas FA , et al. 2003 Edit
GEN864 CAMK2A calcium/calmodulin dependent protein kinase II alpha 5q32 Rare single gene variant
3
21 9 Iossifov I et al. 2014 Edit
GEN555 CAPRIN1 Cell cycle associated protein 1 11p13 Functional
2
2 4 Jiang YH , et al. 2013 Edit
GEN897 CBLN1 cerebellin 1 precursor 16q12.1 Functional
1 6 Krishnan V , et al. 2017 Edit
GEN621 CC2D1A Coiled-coil and C2 domain containing 1A 19p13.12 Rare single gene variant
2
Yes 24 14 Manzini MC , et al. 2014 Edit
GEN328 CD38 CD38 molecule 4p15.32 Genetic Association
12 9 Munesue T , et al. 2010 Edit
GEN046 CDKL5 cyclin-dependent kinase-like 5 Xp22.13 Syndromic
4
Yes 108 40 Weaving LS , et al. 2004 Edit
GEN487 CELF4 CUGBP, Elav-like family member 4 18q12.2 Functional
3
10 12 Halgren C , et al. 2012 Edit
GEN523 CELF6 CUGBP, Elav-like family member 6 15q23 Genetic association/Rare single gene variant/Functional
2
5 4 Dougherty JD , et al. 2013 Edit
GEN583 CEP290 Centrosomal protein 290kDa 12q21.32 Syndromic
3
17 8 Coppieters F , et al. 2010 Edit
GEN548 CHD2 Chromodomain helicase DNA binding protein 2 15q26.1 Syndromic
5
130 57 Carvill GL , et al. 2013 Edit
GEN912 CHD5 chromodomain helicase DNA binding protein 5 1p36.31 Rare single gene variant
3
20 7 Pisansky MT , et al. 2017 Edit
GEN280 CHD7 chromodomain helicase DNA binding protein 7 8q12.2 Syndromic
4
44 31 Vissers LE , et al. 2004 Edit
GEN334 CHD8 chromodomain helicase DNA binding protein 8 14q11.2 Multigenic CNV
5
233 68 O'Roak BJ , et al. 2012 Edit
GEN882 CIC capicua transcriptional repressor 19q13.2 Rare single gene variant
4
15 7 Iossifov I et al. 2014 Edit
GEN579 CLSTN3 Calsyntenin 3 12p13.31 Functional
2
2 3 Pettem KL , et al. 2013 Edit
GEN050 CNTN4 contactin 4 3p26.3-p26.2 Syndromic
2
22 24 Roohi J , et al. 2008 Edit
GEN051 CNTNAP2 contactin associated protein-like 2 7q35-q36.1 Syndromic
4
135 72 Arking DE , et al. 2008 Edit
GEN616 CNTNAP4 Contactin associated protein-like 4 16q23.1 Rare Single Gene variant
2
19 11 Karayannis T , et al. 2014 Edit
GEN844 CRHR2 corticotropin releasing hormone receptor 2 7p14.3 Functional
2
1 4 Shemesh Y , et al. 2016 Edit
GEN330 CSNK1D casein kinase 1, delta 17q25.3 Rare Single Gene variant
2
3 2 Pinto D , et al. 2010 Edit
GEN996 CSNK1E casein kinase 1 epsilon 22q13.1 Functional
2
2 5 De Rubeis S , et al. 2014 Edit
GEN472 CTNNB1 catenin beta 1 3p22.1 Rare Single Gene variant
4
63 25 O'Roak BJ , et al. 2012 Edit
GEN711 CTNND2 Catenin (cadherin-associated protein), delta 2 5p15.2 Rare single gene variant
3
21 7 Turner TN , et al. 2015 Edit
GEN054 CTTNBP2 cortactin binding protein 2 7q31.31 Rare Single Gene variant
3
40 10 Cheung J , et al. 2001 Edit
GEN409 CUL3 Cullin 3 2q36.2 Rare single gene variant
4
45 24 O'Roak BJ , et al. 2012 Edit
GEN055 CXCR3 chemokine (C-X-C motif) receptor 3 Xq13.1 Rare Single Gene variant
2
4 9 Piton A , et al. 2010 Edit
GEN320 CYFIP1 cytoplasmic FMR1 interacting protein 1 15q11.2 Multigenic CNV
2
9 18 Leblond CS , et al. 2012 Edit
GEN057 DAB1 disabled homolog 1 (Drosophila) 1p32.2-p32.1 Functional
1 7 Fatemi SH , et al. 2005 Edit
GEN508 DAGLA diacylglycerol lipase alpha 11q12.2 Rare single gene variant
2
38 5 Prasad A , et al. 2013 Edit
GEN745 DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked Xp11.4 Rare single gene variant
5
253 30 Snijders Blok L , et al. 2015 Edit
GEN610 DEAF1 DEAF1 transcription factor 11p15.5 Rare single gene variant
5
61 20 Vulto-van Silfhout AT , et al. 2014 Edit
GEN063 DHCR7 7-dehydrocholesterol reductase 11q13.4 Syndromic
2
35 18 Tierney E , et al. 2001 Edit
GEN644 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) 21q22.3 Rare single gene variant
3
12 9 Iossifov I , et al. 2012 Edit
GEN065 DISC1 disrupted in schizophrenia 1 1q42.2 Syndromic
2
31 34 Kilpinen H , et al. 2007 Edit
GEN676 DLG1 discs large MAGUK scaffold protein 1 3q29 Rare single gene variant
3
11 5 Li J , et al. 2015 Edit
GEN412 DLG4 discs large MAGUK scaffold protein 4 17p13.1 Functional
5
73 15 Feyder M , et al. 2010 Edit
GEN677 DLGAP1 DLG associated protein 1 18p11.31 Rare single gene variant
2
15 10 Li J , et al. 2015 Edit
GEN066 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 8p23.3 Rare Single Gene variant
3
28 15 Marshall CR , et al. 2008 Edit
GEN070 DMD dystrophin (muscular dystrophy, Duchenne and Becker types) Xp21.2-p21.1 Syndromic
3
37 38 Wu JY , et al. 2006 Edit
GEN071 DMPK dystrophia myotonica-protein kinase 19q13.32 Syndromic
2
12 10 Ekstrm AB , et al. 2008 Edit
GEN762 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 2p23.3 Rare single gene variant
4
92 19 Sanders SJ , et al. 2015 Edit
GEN073 DPP6 dipeptidyl-peptidase 6 7q36.2 Genetic Association
3
25 25 Marshall CR , et al. 2008 Edit
GEN991 DPYSL3 dihydropyrimidinase like 3 5q32 Rare single gene variant
2
2 2 Iossifov I et al. 2014 Edit
GEN576 DRD1 Dopamine receptor D1 5q35.2 Genetic association
4 4 Hettinger JA , et al. 2008 Edit
GEN075 DRD3 dopamine receptor D3 3q13.31 Genetic Association
0
4 8 de Krom M , et al. 2008 Edit
GEN645 DSCAM Down syndrome cell adhesion molecule 21q22.2 Rare single gene variant
5
97 12 Iossifov I et al. 2014 Edit
GEN796 DVL1 Dishevelled segment polarity protein 1 1p36.33 Functional
0 3 Lijam N , et al. 1997 Edit
GEN797 DVL3 Dishevelled segment polarity protein 3 3q27.1 Rare single gene variant
2
1 3 Dong S , et al. 2014 Edit
GEN367 DYRK1A Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13 Syndromic
5
237 55 O'Roak BJ , et al. 2012 Edit
GEN989 EBF3 early B-cell factor 3 10q26.3 Rare single gene variant
4
39 12 Tanaka AJ , et al. 2017 Edit
GEN608 EEF1A2 Eukaryotic translation elongation factor 1 alpha 2 20q13.33 Syndromic
2
35 14 Nakajima J , et al. 2014 Edit
GEN344 EHMT1 Euchromatic histone-lysine N-methyltransferase 1 9q34.3 Syndromic
3
36 29 Talkowski ME , et al. 2012 Edit
GEN077 EIF4E eukaryotic translation initiation factor 4E 4q23 Rare single gene variant
2
8 12 Neves-Pereira M , et al. 2009 Edit
GEN479 EIF4EBP2 Eukaryotic translation initiation factor 4E binding protein 2 10q22.1 Functional
0 1 Gkogkas CG , et al. 2012 Edit
GEN1171 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 3q27.1 Rare single gene variant
2
1 2 Gonatopoulos-Pournatzis T , et al. 2020 Edit
GEN078 EN2 engrailed homolog 2 7q36.3 Genetic Association
2
12 25 Gharani N , et al. 2004 Edit
GEN079 EPHA6 EPH receptor A6 3q11.2 Rare Single Gene variant
4 6 Pinto D , et al. 2010 Edit
GEN410 EPHB2 EPH receptor B2 1p36.12 Rare single gene variant
4
56 6 Sanders SJ , et al. 2012 Edit
GEN574 EPS8 epidermal growth factor receptor pathway substrate 8 12p12.3 Functional
0 1 Menna E , et al. 2013 Edit
GEN081 ERBB4 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) 2q34 Rare Single Gene variant
2
13 15 Pinto D , et al. 2010 Edit
GEN678 ERBIN erbb2 interacting protein 5q12.3 Rare single gene variant
3
4 6 Li J , et al. 2015 Edit
GEN083 ESR2 estrogen receptor 2 (ER beta) 14q23.2-q23.3 Syndromic
0
5 9 Chakrabarti B , et al. 2009 Edit
GEN084 ESRRB estrogen-related receptor beta 14q24.3 Genetic Association
3 7 Wang K , et al. 2009 Edit
GEN361 EXT1 Exostosin 1 8q24.11 Rare single gene variant
2
5 6 Li H , et al. 2002 Edit
GEN090 FEZF2 FEZ family zinc finger 2 3p14.2 Genetic Association
2
5 9 Wang K , et al. 2009 Edit
GEN1030 FGFR2 fibroblast growth factor receptor 2 10q26.13 Functional
0 1 Szczurkowska J , et al. 2018 Edit
GEN093 FMR1 fragile X mental retardation 1 Xq27.3 Functional
3
41 44 Rogers SJ , et al. 2002 Edit
GEN413 FOLH1 folate hydrolase 1 11p11.12 Functional
0 2 Han L , et al. 2009 Edit
GEN094 FOXG1 Forkhead box G1 14q12 Syndromic
3
72 42 Kortm F , et al. 2011 Edit
GEN095 FOXP1 forkhead box P1 3p13 Rare Single Gene variant
5
133 52 O'Roak BJ , et al. 2011 Edit
GEN096 FOXP2 forkhead box P2 7q31.1 Rare single gene variant
3
85 45 Gong X , et al. 2004 Edit
GEN827 GABRA5 gamma-aminobutyric acid type A receptor alpha5 subunit 15q12 Genetic association
0
4 9 Fatemi SH , et al. 2010 Edit
GEN1166 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 5q34 Rare single gene variant
2
3 2 Iossifov I et al. 2014 Edit
GEN101 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 15q12 Genetic Association
4
Yes 84 39 Cook EH Jr , et al. 1998 Edit
GEN606 GAD1 Glutamate decarboxylase 1 (brain, 67kDa) 2q31.1 Functional
0
3 6 Yip J , et al. 2007 Edit
GEN742 GADD45B Growth arrest and DNA-damage-inducible, beta 19p13.3 Functional
2
1 4 Garbett K , et al. 2008 Edit
GEN414 GAP43 Growth associated protein 43 3q13.31 Functional
0 1 Zaccaria KJ , et al. 2010 Edit
GEN721 GIGYF2 GRB10 interacting GYF protein 2 2q37.1 Rare single gene variant
4
23 8 De Rubeis S , et al. 2014 Edit
GEN104 GLRA2 glycine receptor, alpha 2 Xp22.2 Rare Single Gene variant
3
7 15 Piton A , et al. 2010 Edit
GEN1093 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 4q32.1 Rare single gene variant
4
33 4 De Rubeis S , et al. 2014 Edit
GEN415 GRID1 Glutamate receptor, ionotropic, delta 1 10q23.1-q23.2 Genetic association
0
6 6 Glessner JT , et al. 2009 Edit
GEN283 GRID2 glutamate receptor, ionotropic, delta 2 4q22.1-q22.2 Rare Single Gene variant
2
23 9 Schaaf CP , et al. 2011 Edit
GEN109 GRIK2 glutamate ionotropic receptor kainate type subunit 2 6q16.3 Genetic Association
3
33 20 Jamain S , et al. 2002 Edit
GEN775 GRIK4 Glutamate receptor, ionotropic, kainate 4 11q23.3 Rare single gene variant
2
7 5 Aller MI , et al. 2015 Edit
GEN626 GRIN1 Glutamate receptor, ionotropic, N-methyl D-aspartate 1 9q34.3 Functional
3
Yes 48 18 Gandal MJ , et al. 2012 Edit
GEN111 GRIN2B glutamate receptor, inotropic, N-methyl D-apartate 2B 12p13.1 Genetic Association
5
205 62 O'Roak BJ , et al. 2011 Edit
GEN112 GRIP1 glutamate receptor interacting protein 1 12q14.3 Rare Single Gene variant, Genetic Association
3
12 13 Mejias R , et al. 2011 Edit
GEN355 GRM5 glutamate metabotropic receptor 5 11q14.2-q14.3 Rare single gene variant
3
22 8 Iossifov I , et al. 2012 Edit
GEN113 GRM8 glutamate receptor, metabotropic 8 7q31.33 Genetic Association
0
12 7 Serajee FJ , et al. 2003 Edit
GEN114 GRPR Gastrin-releasing peptide receptor Xp22.2 Genetic Association
2
6 8 Ishikawa-Brush Y , et al. 1997 Edit
GEN416 GSK3B Glycogen synthase kinase 3 beta 3q13.33 Functional
2
1 4 Mines MA , et al. 2010 Edit
GEN115 GSTM1 glutathione S-transferase M1 1p13.3 Genetic Association
1 3 Buyske S , et al. 2006 Edit
GEN116 GTF2I general transcription factor IIi 7q11.23 Rare Single Gene variant
2
3 6 Malenfant P , et al. 2011 Edit
GEN611 HCN1 Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 5p12 Rare single gene variant
2
45 9 Nava C , et al. 2014 Edit
GEN843 HDAC3 histone deacetylase 3 5q31.3 Rare single gene variant
2
3 6 Nott A , et al. 2016 Edit
GEN117 HDAC4 histone deacetylase 4 2q37.3 Syndromic
2
12 16 Williams SR , et al. 2010 Edit
GEN881 HDC histidine decarboxylase 15q21.2 Functional
0
1 6 Castellan Baldan L , et al. 2014 Edit
GEN303 HMGN1 high mobility group nucleosome binding domain 1 21q22.2 Genetic Association
11 1 Abuhatzira L , et al. 2011 Edit
GEN356 HOMER1 Homer homolog 1 (Drosophila) 5q14.1 Rare single gene variant
3
8 5 Kelleher RJ 3rd , et al. 2012 Edit
GEN122 HOXA1 homeobox A1 7p15.2 Genetic Association
3
21 15 Ingram JL , et al. 2000 Edit
GEN127 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B 6q14.1 Genetic Association
0
2 6 Orabona GM , et al. 2008 Edit
GEN128 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A 13q14.2 Genetic Association
2
12 10 Veenstra-VanderWeele J , et al. 2002 Edit
GEN129 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A 11q23.2 Functional
0
5 7 Anderson BM , et al. 2009 Edit
GEN840 IFNG interferon gamma 12q15 Functional
0 13 Singh VK 1996 Edit
GEN841 IFNGR1 interferon gamma receptor 1 6q23.3 Functional
0 1 Filiano AJ , et al. 2016 Edit
GEN133 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 Xp21.3-p21.2 Rare single gene variant
3
29 23 Bhat SS , et al. 2007 Edit
GEN134 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 7q31.1 Rare single gene variant
26 14 Petek E , et al. 2001 Edit
GEN542 IQSEC2 IQ motif and Sec7 domain 2 Xp11.22 Syndromic
5
119 35 Shoubridge C , et al. 2010 Edit
GEN137 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 17q21.32 Genetic association
2
11 16 Weiss LA , et al. 2006 Edit
GEN790 JAKMIP1 Janus kinase and microtubule interacting protein 1 4p16.1 Functional
2
5 8 Berg JM , et al. 2015 Edit
GEN140 KCNJ10 potassium voltage-gated channel subfamily J member 10 1q23.2 Genetic Association
3
14 11 Sicca F , et al. 2011 Edit
GEN614 KCNJ2 Potassium inwardly-rectifying channel, subfamily J, member 2 17q24.3 Rare Single Gene variant
2
2 3 Ambrosini E , et al. 2014 Edit
GEN141 KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 10q22.3 Rare single gene variant
3
28 25 Laumonnier F , et al. 2006 Edit
GEN553 KCNQ2 potassium voltage-gated channel subfamily Q member 2 20q13.33 Genetic association
3
66 30 Jiang YH , et al. 2013 Edit
GEN363 KCTD13 Potassium channel tetramerisation domain containing 13 16p11.2 Rare single gene variant
0
4 8 Golzio C , et al. 2012 Edit
GEN1232 KDM5A lysine demethylase 5A 12p13.33 Rare single gene variant/Functional
2
Yes 7 1 El Hayek L et al. 2020 Edit
GEN896 KDM6A lysine demethylase 6A Xp11.3 Syndromic
3
9 8 C Yuen RK et al. 2017 Edit
GEN789 KIRREL3 Kin of IRRE like 3 (Drosophila) 11q24.2 Rare single gene variant
3
29 17 Talkowski ME , et al. 2012 Edit
GEN700 KMT2A Lysine (K)-specific methyltransferase 2A 11q23.3 Syndromic
5
171 29 De Rubeis S , et al. 2014 Edit
GEN659 KMT2C Lysine (K)-specific methyltransferase 2C 7q36.1 Rare single gene variant
4
59 22 O'Roak BJ , et al. 2012 Edit
GEN336 KMT5B lysine methyltransferase 5B 11q13.2 Rare Single Gene variant
5
41 14 Sanders SJ , et al. 2012 Edit
GEN144 LAMC3 laminin, gamma 3 9q34.12 Rare Single Gene variant
3
24 10 O'Roak BJ , et al. 2011 Edit
GEN979 LAT linker for activation of T-cells 16p11.2 Functional
0 2 Loviglio MN , et al. 2017 Edit
GEN911 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 6p21.2-p21.1 Rare single gene variant
2
16 4 Morimura N , et al. 2017 Edit
GEN1020 LRRC4 leucine rich repeat containing 4 7q32.1 Rare single gene variant
2
2 3 Jiang YH , et al. 2013 Edit
GEN417 LRRC7 Leucine rich repeat containing 7 1p31.1 Functional
2
2 3 Carlisle HJ , et al. 2011 Edit
GEN578 MAGEL2 MAGE-like 2 15q11.2 Syndromic
4
52 19 Schaaf CP , et al. 2013 Edit
GEN149 MAOA monoamine oxidase A Xp11.3 Genetic Association
3
15 17 Cohen IL , et al. 2003 Edit
GEN418 MAPK1 Mitogen-activated protein kinase 1 22q11.22 Functional
2
8 3 Satoh Y , et al. 2011 Edit
GEN284 MAPK3 mitogen-activated protein kinase 3 16p11.2 Rare Single Gene variant
3
13 6 Schaaf CP , et al. 2011 Edit
GEN419 MAPK8IP2 Mitogen-activated protein kinase 8 interacting protein 2 22q13.33 Functional
0 1 Giza J , et al. 2010 Edit
GEN153 MBD3 methyl-CpG binding domain protein 3 19p13.3 Rare Single Gene variant, Genetic Association
2
18 4 Cukier HN , et al. 2009 Edit
GEN846 MBOAT7 membrane bound O-acyltransferase domain containing 7 19q13.42 Rare single gene variant
2
Yes 36 12 Johansen A , et al. 2016 Edit
GEN155 MCPH1 microcephalin 1 8p23.1 Rare Single Gene variant
2
16 16 Ozgen HM , et al. 2009 Edit
GEN156 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 14q21.3 Genetic Association
2
21 9 Bucan M , et al. 2009 Edit
GEN157 MECP2 Methyl CpG binding protein 2 Xq28 Syndromic
4
190 91 Amir RE , et al. 1999 Edit
GEN159 MEF2C myocyte enhancer factor 2C 5q14.3 Rare Single Gene variant
4
Yes 88 40 Novara F , et al. 2010 Edit
GEN160 MET met proto-oncogene (hepatocyte growth factor receptor) 7q31.2 Genetic Association
2
25 39 Campbell DB , et al. 2006 Edit
GEN1049 MIR137 microRNA 137 1p21.3 Rare single gene variant
0
11 10 Carter MT , et al. 2010 Edit
GEN163 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1p36.22 Genetic Association
2
15 18 James SJ , et al. 2006 Edit
GEN785 MTOR mechanistic target of rapamycin kinase 1p36.22 Rare single gene variant
4
53 22 Mroske C , et al. 2015 Edit
GEN533 MYT1L Myelin transcription factor 1-like 2p25.3 Multigenic CNV
4
75 22 Meyer KJ , et al. 2011 Edit
GEN662 NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4q31.1 Rare single gene variant
5
68 14 De Rubeis S , et al. 2014 Edit
GEN166 NBEA neurobeachin 13q13.3 Rare single gene variant
4
33 20 Castermans D , et al. 2003 Edit
GEN650 NCKAP1 NCK-associated protein 1 2q32.1 Rare single gene variant
4
36 12 Iossifov I , et al. 2012 Edit
GEN855 NCOR1 nuclear receptor corepressor 1 17p12-p11.2 Rare single gene variant
4
52 7 Iossifov I , et al. 2012 Edit
GEN1029 NEGR1 neuronal growth regulator 1 1p31.1 Rare single gene variant
2 6 Singh K , et al. 2018 Edit
GEN1256 NEUROD2 neuronal differentiation 2 17q12 Rare single gene variant
4
9 3 Sega AG et al. 2019 Edit
GEN538 NEXMIF neurite extension and migration factor Xq13.3 Rare single gene variant
4
100 25 Cantagrel V , et al. 2004 Edit
GEN169 NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) 17q11.2 Rare Single Gene variant, Genetic Association
3
16 25 Marui T , et al. 2004 Edit
GEN170 NLGN1 neuroligin 1 3q26.31 Genetic Association
3
15 19 Glessner JT , et al. 2009 Edit
GEN627 NLGN2 Neuroligin 2 17p13.1 Rare single gene variant
2
5 8 Whr M , et al. 2012 Edit
GEN171 NLGN3 neuroligin 3 Xq13.1 Rare Single Gene variant
3
33 37 Jamain S , et al. 2003 Edit
GEN172 NLGN4X neuroligin 4, X-linked Xp22.32-p22.31 Rare Single Gene variant
4
48 36 Jamain S , et al. 2003 Edit
GEN175 NOS2 nitric oxide synthase 2 17q11.2 Genetic Association
2
6 8 Kim HW , et al. 2008 Edit
GEN176 NPAS2 neuronal PAS domain protein 2 2q11.2 Genetic Association
3 4 Nicholas B , et al. 2007 Edit
GEN817 NR2F1 nuclear receptor subfamily 2 group F member 1 5q15 Rare single gene variant
4
57 19 Bosch DG , et al. 2014 Edit
GEN663 NR3C2 Nuclear receptor subfamily 3, group C, member 2 4q31.23 Rare single gene variant
4
17 8 De Rubeis S , et al. 2014 Edit
GEN177 NRCAM neuronal cell adhesion molecule 7q31.1 Genetic Association
2
8 5 Marui T , et al. 2008 Edit
GEN628 NRG1 Neuregulin 1 8p12 Functional
0 4 Ehrlichman RS , et al. 2009 Edit
GEN178 NRP2 neuropilin 2 2q33.3 Genetic Association
0
4 8 Wu S , et al. 2007 Edit
GEN179 NRXN1 neurexin 1 2p16.3 Rare Single Gene variant
5
Yes 350 95 Feng J , et al. 2006 Edit
GEN271 NRXN2 neurexin 2 11q13.1 Rare Single Gene variant
3
21 12 Gauthier J , et al. 2011 Edit
GEN180 NTNG1 netrin G1 1p13.3 Syndromic
2
5 8 Borg I , et al. 2005 Edit
GEN1117 NTNG2 netrin G2 9q34.13 Syndromic
Yes 13 3 Abu-Libdeh B , et al. 2019 Edit
GEN756 NUAK1 NUAK family, SNF1-like kinase, 1 12q23.3 Rare single gene variant
3
4 6 Iossifov I , et al. 2012 Edit
GEN184 OPHN1 oligophrenin 1 Xq12 Rare Single Gene variant
2
17 15 Piton A , et al. 2010 Edit
GEN185 OPRM1 opioid receptor, mu 1 6q25.2 Functional
0 4 Moles A , et al. 2004 Edit
GEN1005 OTUD7A OTU deubiquitinase 7A 15q13.3 Multigenic CNV
3
2 4 Uddin M , et al. 2018 Edit
GEN828 OXT oxytocin/neurophysin I prepropeptide 20p13 Genetic association
2
9 5 Ebstein RP , et al. 2009 Edit
GEN187 OXTR oxytocin receptor 3p25.3 Genetic Association
0
52 48 Wu S , et al. 2005 Edit
GEN629 P2RX4 Purinergic receptor P2X, ligand-gated ion channel, 4 12q24.31 Functional
0 1 Wyatt LR , et al. 2013 Edit
GEN803 PACS1 phosphofurin acidic cluster sorting protein 1 11q13.1-q13.2 Syndromic
4
40 7 Schuurs-Hoeijmakers JH , et al. 2016 Edit
GEN630 PAFAH1B1 Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 17p13.3 Functional
0
5 4 Sudarov A , et al. 2013 Edit
GEN1037 PAK2 p21 (RAC1) activated kinase 2 3q29 Rare single gene variant/Functional
3
4 5 Wang Y , et al. 2018 Edit
GEN391 PARD3B Par-3 partitioning defective 3 homolog B (C. elegans) 2q33.3 Genetic association
3
10 7 Anney R , et al. 2012 Edit
GEN743 PAX6 Paired box 6 11p13 Multigenic CNV
2
4 7 Umeda T , et al. 2011 Edit
GEN189 PCDH10 protocadherin 10 4q28.3 Rare Single Gene variant
2
4 8 Morrow EM , et al. 2008 Edit
GEN190 PCDH19 protocadherin 19 Xq22.1 Syndromic
4
218 41 Piton A , et al. 2010 Edit
GEN193 PER1 period homolog 1 (Drosophila) 17p13.1 Genetic Association
2
9 7 Nicholas B , et al. 2007 Edit
GEN859 PGLYRP2 peptidoglycan recognition protein 2 19p13.12 Rare single gene variant
2
3 4 Arentsen T , et al. 2016 Edit
GEN196 PITX1 paired-like homeodomain 1 5q31.1 Genetic Association
2
9 6 Philippi A , et al. 2007 Edit
GEN371 PLAUR Plasminogen activator, urokinase receptor 19q13.31 Genetic association
2
2 2 Campbell DB , et al. 2009 Edit
GEN198 PLN phospholamban 6q22.31 Rare Single Gene variant
1 4 Marshall CR , et al. 2008 Edit
GEN972 PLPPR4 phospholipid phosphatase related 4 1p21.3-p21.2 Functional
0 3 Vogt J , et al. 2015 Edit
GEN872 PLXNB1 plexin B1 3p21.31 Rare single gene variant
3
5 3 De Rubeis S , et al. 2014 Edit
GEN368 POGZ Pogo transposable element with ZNF domain 1q21.3 Rare single gene variant
5
162 40 Neale BM , et al. 2012 Edit
GEN806 POU3F2 POU class 3 homeobox 2 6q16.1 Functional
0
8 5 Belinson H , et al. 2016 Edit
GEN588 PRICKLE1 Prickle homolog 1 (Drosophila) 12q12 Syndromic
3
8 4 Paemka L , et al. 2013 Edit
GEN545 PRICKLE2 prickle planar cell polarity protein 2 3p14.1 Rare single gene variant/multigenic CNV
3
12 5 Sowers LP , et al. 2013 Edit
GEN201 PRKCB protein kinase C beta 16p12.2-p12.1 Genetic Association
2
6 7 Philippi A , et al. 2005 Edit
GEN839 PRKDC protein kinase, DNA-activated, catalytic polypeptide 8q11.21 Syndromic
3
8 6 Filiano AJ , et al. 2016 Edit
GEN188 PRKN parkin RBR E3 ubiquitin protein ligase 6q26 Genetic Association
46 15 Glessner JT , et al. 2009 Edit
GEN203 PTCHD1 patched domain containing 1 Xp22.11 Rare Single Gene variant
3
60 13 Marshall CR , et al. 2008 Edit
GEN204 PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1) 10q23.31 Syndromic
5
138 67 Goffin A , et al. 2001 Edit
GEN205 PTGS2 prostaglandin-endoperoxide synthase 2 1q31.1 Genetic Association
2
2 7 Yoo HJ , et al. 2008 Edit
GEN734 PVALB Parvalbumin 22q12.3 Functional
0 2 Whr M , et al. 2015 Edit
GEN207 RAB39B RAB39B, member RAS oncogene family Xq28 Rare Single Gene variant
3
13 14 Giannandrea M , et al. 2010 Edit
GEN208 RAI1 retinoic acid induced 1 17p11.2 Syndromic
4
17 25 Nakamine A , et al. 2007 Edit
GEN209 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 2q31.1 Rare Single Gene variant, Genetic Association
3
9 17 Bacchelli E , et al. 2003 Edit
GEN560 RASD1 ras related dexamethasone induced 1 17p11.2 Functional
0 1 Lacaria M , et al. 2013 Edit
GEN001 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 16p13.3 Genetic Association
0
77 38 Sebat J , et al. 2007 Edit
GEN213 RELN Reelin 7q22.1 Genetic Association
5
196 56 Persico AM , et al. 2001 Edit
GEN983 RHEB Ras homolog, mTORC1 binding 7q36.1 Syndromic
0
2 1 Reijnders MRF , et al. 2017 Edit
GEN637 RIMS1 Regulating synaptic membrane exocytosis 1 6q13 Rare single gene variant
3
14 8 Dong S , et al. 2014 Edit
GEN708 RLIM Ring finger protein, LIM domain interacting Xq13.2 Rare single gene variant
2
18 5 Tnne E , et al. 2015 Edit
GEN219 RORA RAR-related orphan receptor A 15q22.2 Functional
4
20 18 Nguyen A , et al. 2010 Edit
GEN220 RPL10 ribosomal protein L10 Xq28 Rare single gene variant
3
7 13 Klauck SM , et al. 2006 Edit
GEN591 RPS6KA3 Ribosomal protein S6 kinase, 90kDa, polypeptide 3 Xp22.12 Syndromic
2
7 10 O'Roak BJ , et al. 2012 Edit
GEN223 SCN1A sodium channel, voltage-gated, type I, alpha subunit 2q24.3 Rare Single Gene variant
4
199 69 Weiss LA , et al. 2003 Edit
GEN224 SCN2A sodium channel, voltage-gated, type II, alpha subunit 2q24.3 Rare Single Gene variant
5
309 79 Weiss LA , et al. 2003 Edit
GEN327 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12q13.13 Rare single gene variant
4
188 40 Veeramah KR , et al. 2012 Edit
GEN1077 SEMA3F semaphorin 3F 3p21.31 Functional
0 1 Li Z , et al. 2019 Edit
GEN226 SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 5p15.31 Functional
2
12 17 Melin M , et al. 2006 Edit
GEN607 SETD5 SET domain containing 5 3p25.3 Rare Single Gene variant
5
122 28 Grozeva D , et al. 2014 Edit
GEN601 SGSH N-sulfoglucosamine sulfohydrolase 17q25.3 Syndromic
3 5 Rumsey RK , et al. 2014 Edit
GEN1076 SH3RF2 SH3 domain containing ring finger 2 5q32 Functional
0 1 Wang S , et al. 2018 Edit
GEN340 SHANK1 SH3 and multiple ankyrin repeat domains 1 19q13.33 Rare Single Gene variant
4
42 9 Sato D , et al. 2012 Edit
GEN229 SHANK2 SH3 and multiple ankyrin repeat domains 2 11q13.3-q13.4 Rare Single Gene variant
5
125 41 Berkel S , et al. 2010 Edit
GEN230 SHANK3 SH3 and multiple ankyrin repeat domains 3 22q13.33 Rare Single Gene variant
5
339 99 Durand CM , et al. 2006 Edit
GEN837 SIN3A SIN3 transcription regulator family member A 15q24.2 Rare single gene variant
4
72 13 Witteveen JS , et al. 2016 Edit
GEN706 SLC1A2 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 11p13 Multigenic CNV
0
23 6 Aida T , et al. 2015 Edit
GEN232 SLC25A12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 2q31.1 Genetic Association
0
17 23 Ramoz N , et al. 2004 Edit
GEN835 SLC30A3 solute carrier family 30 member 3 2p23.3 Functional
0 2 Yoo MH , et al. 2016 Edit
GEN832 SLC33A1 solute carrier family 33 member 1 3q25.31 Functional
0 4 Hullinger R , et al. 2016 Edit
GEN234 SLC4A10 solute carrier family 4, sodium bicarbonate transporter-like, member 10 2q24.2 Genetic Association
3 6 Sebat J , et al. 2007 Edit
GEN714 SLC6A1 Solute carrier family 6 (neurotransmitter transporter), member 1 3p25.3 Rare single gene variant
5
125 36 Sanders SJ , et al. 2012 Edit
GEN568 SLC6A3 Solute carrier family 6 (neurotransmitter transporter), member 3 5p15.33 Rare single gene variant
3
13 15 Hamilton PJ , et al. 2013 Edit
GEN235 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 17q11.2 Genetic Association
2
49 26 Cook EH Jr , et al. 1997 Edit
GEN236 SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 Xq28 Rare Single Gene variant
3
17 15 Po-Argelles P , et al. 2006 Edit
GEN860 SLC7A5 solute carrier family 7 member 5 16q24.2 Functional/syndromic
2
Yes 9 4 Tafrlungeanu DC , et al. 2016 Edit
GEN237 SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 Xq26.3 Syndromic
2
30 18 Garbern JY , et al. 2010 Edit
GEN238 SLC9A9 solute carrier family 9 (sodium/hydrogen exchanger), member 9 3q24 Rare Single Gene variant
3
18 12 Morrow EM , et al. 2008 Edit
GEN558 SLITRK5 SLIT and NTRK like family member 5 13q31.2 Functional
3
11 9 Shmelkov SV , et al. 2010 Edit
GEN348 SPAST Spastin 2p22.3 Rare Single Gene variant
3
13 14 Talkowski ME , et al. 2012 Edit
GEN871 SRCAP Snf2 related CREBBP activator protein 16p11.2 Rare single gene variant
4
40 6 Iossifov I et al. 2014 Edit
GEN671 SRRM4 Serine/arginine repetitive matrix 4 12q24.23 Functional
0
1 5 Irimia M , et al. 2014 Edit
GEN420 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 15q26.1 Genetic association
2
12 9 Anney R , et al. 2010 Edit
GEN842 STAT1 signal transducer and activator of transcription 1 2q32.2 Rare single gene variant
2
1 2 Filiano AJ , et al. 2016 Edit
GEN241 STK39 serine threonine kinase 39 (STE20/SPS1 homolog, yeast) 2q24.3 Genetic Association
3 5 Ramoz N , et al. 2008 Edit
GEN390 STXBP1 Syntaxin binding protein 1 9q34.11 Syndromic
4
179 50 Campbell IM , et al. 2012 Edit
GEN1175 SYBU syntabulin 8q23.2 Rare single gene variant/Functional
2
1 1 Xiong GJ et al. 2020 Edit
GEN243 SYN1 Synapsin 1 Xp11.3-p11.23 Rare Single Gene variant
3
17 23 Fassio A , et al. 2011 Edit
GEN563 SYN2 Synapsin II 3p25.2 Genetic association
3
5 6 Corradi A , et al. 2013 Edit
GEN564 SYN3 Synapsin III 22q12.3 Functional
2
2 3 Greco B , et al. 2013 Edit
GEN245 SYNGAP1 synaptic Ras GTPase activating protein 1 6p21.32 Rare Single Gene variant
5
178 66 Hamdan FF , et al. 2011 Edit
GEN1006 TAOK2 TAO kinase 2 16p11.2 Rare single gene variant
4
25 6 C Yuen RK et al. 2017 Edit
GEN477 TBR1 T-box, brain, 1 2q24.2 Rare Single Gene variant
5
73 33 O'Roak BJ , et al. 2012 Edit
GEN286 TBX1 T-box 1 22q11.21 Syndromic
2
1 5 Paylor R , et al. 2006 Edit
GEN633 TCF20 Transcription factor 20 (AR1) 22q13.2 Rare single gene variant
5
73 11 Babbs C , et al. 2014 Edit
GEN592 TCF4 Transcription factor 4 18q21.2 Syndromic
4
51 52 Van Balkom ID , et al. 2012 Edit
GEN823 TERT telomerase reverse transcriptase 5p15.33 Rare single gene variant
2
1 2 Kim KC , et al. 2015 Edit
GEN421 THRA thyroid hormone receptor alpha 17q21.1 Functional
2
3 5 Pilhatsch M , et al. 2010 Edit
GEN561 TOP3B Topoisomerase (DNA) III beta 22q11.22 Rare single gene variant
2
5 6 Xu D , et al. 2013 Edit
GEN254 TPH2 tryptophan hydroxylase 2 12q21.1 Genetic Association
2
11 14 Coon H , et al. 2005 Edit
GEN914 TRAPPC6B trafficking protein particle complex 6B 14q21.1 Rare single gene variant
8 5 Marin-Valencia I , et al. 2017 Edit
GEN1142 TRIM32 tripartite motif containing 32 9q33.1 Rare single gene variant/multigenic CNV
0
30 3 Zhu JW , et al. 2019 Edit
GEN664 TRIO Trio Rho guanine nucleotide exchange factor 5p15.2 Rare Single Gene variant
4
129 30 De Rubeis S , et al. 2014 Edit
GEN354 TRIP12 Thyroid hormone receptor interactor 12 2q36.3 Rare single gene variant
4
Yes 70 21 Chahrour MH , et al. 2012 Edit
GEN666 TRPC6 Transient receptor potential cation channel, subfamily C, member 6 11q22.1 Rare single gene variant/functional
3
12 3 Griesi-Oliveira K , et al. 2014 Edit
GEN255 TSC1 tuberous sclerosis 1 9q34.13 Rare Single Gene variant
4
40 23 Smalley SL 1998 Edit
GEN256 TSC2 tuberous sclerosis 2 16p13.3 Genetic Association
5
90 36 Smalley SL 1998 Edit
GEN850 TSHZ3 teashirt zinc finger homeobox 3 19 Rare single gene variant
0
7 3 Caubit X , et al. 2016 Edit
GEN422 TYR tyrosinase 11q14.3 Functional
3 3 Hamilton SM , et al. 2010 Edit
GEN546 UBA6 Ubiquitin-like modifier activating enzyme 6 4q13.2 Functional
2
2 4 Lee PC , et al. 2013 Edit
GEN262 UBE3A ubiquitin protein ligase E3A 15q11.2 Genetic Association
4
26 32 Nurmi EL , et al. 2001 Edit
GEN351 UBE3B ubiquitin protein ligase E3B 12q24.11 Rare single gene variant
2
Yes 24 8 Chahrour MH , et al. 2012 Edit
GEN845 UCN3 urocortin 3 10p15.1 Functional
0 1 Shemesh Y , et al. 2016 Edit
GEN518 UPF2 UPF2, regulator of nonsense mediated mRNA decay 10p14 Multigenic CNV
2
9 9 Nguyen LS , et al. 2013 Edit
GEN364 UPF3B UPF3B, regulator of nonsense mediated mRNA decay Xq24 Syndromic
3
28 17 Tarpey PS , et al. 2007 Edit
GEN758 USP7 Ubiquitin specific peptidase 7 (herpes virus-associated) 16p13.2 Rare single gene variant
2
29 7 Hao YH , et al. 2015 Edit
GEN787 VLDLR Very low density lipoprotein receptor 9p24.2 Functional
0 3 Fatemi SH , et al. 2005 Edit
GEN978 VRK3 vaccinia related kinase 3 19q13.33 Functional
0 1 Kang MS , et al. 2017 Edit
GEN635 WDFY3 WD repeat and FYVE domain containing 3 4q21.23 Rare Single Gene variant
4
56 18 Iossifov I , et al. 2012 Edit
GEN851 WWOX WW domain containing oxidoreductase 16 Rare single gene variant
2
35 10 Leppa VM , et al. 2016 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
10
Deletion-Duplication
 14
 
 
10
Deletion-Duplication
 1
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion
 3
 
 
10
Duplication
 1
 
 
10
Duplication
 2
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 3
 
 
10
Deletion
 3
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 2
 
 
10
Deletion
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 14
 
 
10
Deletion-Duplication
 4
 
 
10
Deletion-Duplication
 25
 
 
10
Deletion
 2
 
 
10
Deletion
 10
 
 
10
Deletion
 1
 
 
10
Deletion
 8
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 6
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 13
 
 
10
Duplication
 1
 
 
10
Deletion
 4
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 9
 
 
10
Deletion
 6
 
 
10
Deletion-Duplication
 12
 
 
10
Deletion-Duplication
 38
 
 
11
Deletion-Duplication
 15
 
 
11
Duplication
 1
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 28
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 2
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion
 1
 
 
11
Deletion
 3
 
 
11
Deletion
 4
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 21
 
 
11
Duplication
 1
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 6
 
 
11
Deletion
 11
 
 
11
Deletion-Duplication
 1
 
 
11
Deletion-Duplication
 18
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Duplication
 1
 
 
11
Deletion
 7
 
 
11
Duplication
 3
 
 
11
Deletion-Duplication
 16
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 10
 
 
11
Deletion
 3
 
 
11
Deletion-Duplication
 9
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 17
 
 
11
Duplication
 1
 
 
11
Deletion
 3
 
 
11
Duplication
 2
 
 
11
Deletion-Duplication
 18
 
 
11
Duplication
 1
 
 
11
Deletion
 5
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 4
 
 
11
Deletion-Duplication
 13
 
 
11
Deletion
 2
 
 
11
Deletion
 8
 
 
11
Deletion-Duplication
 11
 
 
11
Deletion
 9
 
 
12
Deletion-Duplication
 17
 
 
12
Deletion
 4
 
 
12
Deletion
 10
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 4
 
 
12
Deletion-Duplication
 27
 
 
12
Deletion-Duplication
 34
 
 
12
Duplication
 3
 
 
12
Deletion
 1
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Duplication
 2
 
 
12
Deletion
 6
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 20
 
 
12
Deletion
 1
 
 
12
Duplication
 1
 
 
12
Deletion
 6
 
 
12
Duplication
 2
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 13
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 6
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 8
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Duplication
 2
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 18
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Duplication
 3
 
 
12
Deletion-Duplication
 5
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 25
 
 
12
Deletion-Duplication
 2
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
N/A
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 2
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 6
 
 
13
Duplication
 2
 
 
13
Duplication
 1
 
 
13
Deletion
 11
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 13
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
N/A
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 1
 
 
13
Deletion-Duplication
 6
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 49
 
 
14
Duplication
 4
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 21
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 12
 
 
14
Deletion-Duplication
 5
 
 
14
Deletion-Duplication
 14
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 16
 
 
14
Deletion
 4
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 19
 
 
14
Deletion
 7
 
 
15
Duplication
 10
  construct
 
15
Duplication
 1
 
 
15
Duplication
 3
 
 
15
Duplication
 7
 
 
15
Duplication
 2
 
 
15
Duplication
 2
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 98
 
 
15
Duplication
 7
 
 
15
Duplication
 66
  construct
 
15
Duplication
 5
 
 
15
Duplication
 14
 
 
15
Duplication
 3
 
 
15
Deletion-Duplication
 9
 
 
15
Duplication
 4
 
 
15
Duplication
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 13
 
 
15
Deletion-Duplication
 13
 
 
15
Deletion
 18
 
 
15
Deletion-Duplication
 43
 
 
15
Deletion-Duplication
 71
  construct
 
15
Deletion
 2
 
 
15
Duplication
 1
 
 
15
Deletion
 6
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 8
 
 
15
Deletion-Duplication
 13
 
 
15
Deletion
 9
 
 
15
Deletion
 3
 
 
15
Deletion
 1
 
 
15
Deletion
 8
 
 
15
Duplication
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 7
 
 
15
Deletion-Duplication
 15
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 27
 
 
15
Duplication
 1
 
 
16
Deletion-Duplication
 120
  construct
 
16
Deletion-Duplication
 20
 
 
16
Duplication
 3
 
 
16
Deletion
 1
 
 
16
Deletion
 1
 
 
16
Duplication
 11
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 38
 
 
16
Deletion-Duplication
 54
 
 
16
Duplication
 3
 
 
16
Deletion-Duplication
 2
 
 
16
Deletion
 5
 
 
16
Deletion-Duplication
 1
 
 
16
Deletion-Duplication
 10
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 41
 
 
16
Deletion
 3
 
 
16
Deletion
 1
 
 
16
Duplication
 2
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion
 2
 
 
16
Deletion-Duplication
 3
 
 
16
Deletion-Duplication
 9
 
 
16
Deletion
 9
 
 
16
Deletion-Duplication
 26
 
 
17
Deletion-Duplication
 51
  construct
 
17
Deletion-Duplication
 36
 
 
17
Duplication
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 28
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 20
 
 
17
Duplication
 8
 
 
17
Deletion-Duplication
 47
 
 
17
Duplication
 1
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 4
 
 
17
Duplication
 9
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 6
 
 
17
Duplication
 3
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 24
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 63
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Deletion-Duplication
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 5
 
 
17
Deletion-Duplication
 25
 
 
18
Deletion-Duplication
 12
 
 
18
Duplication
 2
 
 
18
Duplication
 10
 
 
18
Duplication
 7
 
 
18
Deletion
 2
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 9
 
 
18
Duplication
 2
 
 
18
Duplication
 2
 
 
18
Duplication
 1
 
 
18
Deletion
 1
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 1
 
 
18
Duplication
 1
 
 
18
Deletion-Duplication
 18
 
 
18
Deletion
 1
 
 
18
Duplication
 2
 
 
18
Deletion-Duplication
 14
 
 
18
Deletion
 1
 
 
18
Deletion
 2
 
 
18
Deletion
 4
 
 
18
Deletion-Duplication
 10
 
 
19
Duplication
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 16
 
 
19
Duplication
 1
 
 
19
Deletion
 4
 
 
19
Duplication
 1
 
 
19
Duplication
 1
 
 
19
Deletion
 2
 
 
19
Deletion
 1
 
 
19
Duplication
 2
 
 
19
Deletion-Duplication
 5
 
 
19
Deletion-Duplication
 32
 
 
19
Duplication
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 9
 
 
19
Deletion-Duplication
 11
 
 
19
Duplication
 2
 
 
19
Deletion
 1
 
 
19
Duplication
 1
 
 
19
Deletion
 5
 
 
19
Deletion
 2
 
 
19
Deletion-Duplication
 19
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 18
 
 
19
Duplication
 1
 
 
19
Duplication
 5
 
 
1
Deletion-Duplication
 13
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 21
 
 
1
Duplication
 1
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 23
 
 
1
Deletion
 2
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 14
 
 
1
Deletion
 3
 
 
1
Deletion
 1
 
 
1
Deletion
 6
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 4
 
 
1
Deletion-Duplication
 29
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 6
 
 
1
Deletion
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 9
 
 
1
Deletion-Duplication
 14
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Duplication
 5
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 14
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 15
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 3
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion-Duplication
 24
 
 
1
Duplication
 1
 
 
1
Deletion
 3
 
 
1
Deletion
 3
 
 
1
Deletion
 4
 
 
1
Deletion
 14
 
 
1
Duplication
 29
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 16
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 23
 
 
1
Deletion
 3
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 9
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 3
 
 
1
Deletion-Duplication
 19
 
 
1
Duplication
 2
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 16
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 7
 
 
1
Deletion
 2
 
 
1
Deletion-Duplication
 20
 
 
20
Deletion-Duplication
 31
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 2
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 11
 
 
20
Deletion-Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 32
 
 
21
Duplication
 3
 
 
21
Deletion
 2
 
 
21
Deletion
 1
 
 
21
Duplication
 8
 
 
21
Deletion
 1
 
 
21
Duplication
 2
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 16
 
 
21
Deletion-Duplication
 1
 
 
21
Deletion
 1
 
 
21
Duplication
 3
 
 
21
Deletion
 1
 
 
21
Deletion-Duplication
 7
 
 
21
Deletion
 3
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 7
 
 
21
Deletion
 4
 
 
21
Deletion-Duplication
 37
 
 
22
Duplication
 5
 
 
22
Duplication
 1
 
 
22
Duplication
 7
  construct
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 89
  construct
 
22
Deletion-Duplication
 12
 
 
22
Deletion
 6
 
 
22
Duplication
 2
 
 
22
Deletion-Duplication
 24
 
 
22
Duplication
 10
 
 
22
Deletion-Duplication
 32
 
 
22
Duplication
 1
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 23
 
 
22
Deletion
 3
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 26
 
 
22
Duplication
 1
 
 
22
Duplication
 2
 
 
22
Deletion-Duplication
 15
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 11
 
 
22
Deletion
 2
 
 
22
Deletion-Duplication
 16
 
 
22
Deletion-Duplication
 25
 
 
22
Duplication
 24
 
 
22
Deletion-Duplication
 63
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 20
 
 
2
Deletion
 1
 
 
2
Deletion
 7
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion-Duplication
 71
 
 
2
Deletion-Duplication
 3
 
 
2
Deletion
 5
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 34
 
 
2
N/A
 2
 
 
2
Deletion
 12
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 37
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 3
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 4
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 7
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion
 17
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 16
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 26
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Deletion
 2
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 9
 
 
2
Deletion
 2
 
 
2
Deletion-Duplication
 24
 
 
2
Duplication
 3
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 1
 
 
2
Deletion
 2
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion
 5
 
 
2
Deletion-Duplication
 20
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 2
 
 
2
Deletion-Duplication
 20
 
 
2
Deletion
 4
 
 
2
Deletion
 7
 
 
2
Deletion-Duplication
 50
 
 
3
Deletion
 10
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 21
 
 
3
Deletion
 2
 
 
3
Deletion
 10
 
 
3
Deletion
 1
 
 
3
Deletion
 7
 
 
3
Deletion-Duplication
 15
 
 
3
Deletion
 1
 
 
3
Deletion
 7
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion-Duplication
 16
 
 
3
Deletion
 1
 
 
3
Duplication
 1
 
 
3
Deletion
 13
 
 
3
Deletion
 6
 
 
3
Deletion-Duplication
 20
 
 
3
Duplication
 1
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Duplication
 3
 
 
3
Deletion-Duplication
 17
 
 
3
N/A
 2
 
 
3
Deletion-Duplication
 55
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 2
 
 
3
Deletion
 2
 
 
3
Deletion
 4
 
 
3
Duplication
 12
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 2
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 2
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Deletion
 6
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 17
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Duplication
 1
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 13
 
 
3
Duplication
 1
 
 
3
Duplication
 2
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 3
 
 
3
Deletion-Duplication
 20
 
 
3
Deletion
 2
 
 
3
Duplication
 1
 
 
3
Duplication
 2
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 7
 
 
3
Deletion
 4
 
 
3
Duplication
 4
 
 
3
Deletion-Duplication
 57
 
 
4
Deletion
 7
 
 
4
Deletion
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 25
 
 
4
Duplication
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 2
 
 
4
Deletion
 3
 
 
4
Deletion
 1
 
 
4
Duplication
 10
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Duplication
 4
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 30
 
 
4
Deletion-Duplication
 3
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 5
 
 
4
Deletion-Duplication
 23
 
 
4
Duplication
 4
 
 
4
Deletion-Duplication
 13
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 13
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion-Duplication
 17
 
 
4
Duplication
 6
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 19
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 7
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 7
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 17
 
 
4
Duplication
 1
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion-Duplication
 5
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 35
 
 
5
Deletion
 1
 
 
5
Duplication
 4
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion
 4
 
 
5
Duplication
 2
 
 
5
Deletion-Duplication
 33
 
 
5
Duplication
 1
 
 
5
Duplication
 2
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 2
 
 
5
Deletion
 2
 
 
5
Deletion
 8
 
 
5
Deletion
 4
 
 
5
Deletion
 3
 
 
5
Deletion
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion
 1
 
 
5
Duplication
 4
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 17
 
 
5
Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 19
 
 
5
Deletion-Duplication
 2
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 2
 
 
5
Deletion-Duplication
 18
 
 
5
Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 13
 
 
5
Deletion
 2
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 8
 
 
5
Deletion
 2
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 12
 
 
5
Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 15
 
 
5
Duplication
 8
 
 
6
Deletion-Duplication
 12
 
 
6
Deletion-Duplication
 10
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 23
 
 
6
Deletion-Duplication
 11
 
 
6
Deletion-Duplication
 22
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Duplication
 4
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 9
 
 
6
Deletion
 5
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Deletion
 3
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion
 2
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
N/A
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 23
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 8
 
 
6
Duplication
 1
 
 
6
Duplication
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 7
 
 
6
Deletion
 4
 
 
6
Deletion
 3
 
 
6
Deletion-Duplication
 17
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 1
 
 
6
Deletion-Duplication
 40
 
 
6
Deletion
 7
 
 
7
Deletion-Duplication
 15
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Deletion
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 2
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 37
 
 
7
Duplication
 8
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 63
  construct
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 22
 
 
7
Duplication
 2
 
 
7
Duplication
 2
 
 
7
Deletion-Duplication
 21
 
 
7
Deletion-Duplication
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 37
 
 
7
Deletion
 2
 
 
7
Deletion
 3
 
 
7
Deletion
 3
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 9
 
 
7
Duplication
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 9
 
 
7
Deletion-Duplication
 18
 
 
7
Duplication
 4
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 9
 
 
7
Duplication
 1
 
 
7
Deletion
 1
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Deletion
 1
 
 
7
Duplication
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 4
 
 
7
Deletion-Duplication
 41
 
 
7
Deletion-Duplication
 4
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 27
 
 
7
Duplication
 8
 
 
7
Deletion
 4
 
 
7
Deletion-Duplication
 25
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 24
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 2
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 14
 
 
8
Deletion-Duplication
 2
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 43
 
 
8
Duplication
 4
 
 
8
Duplication
 3
 
 
8
Duplication
 4
 
 
8
Deletion-Duplication
 9
 
 
8
Deletion-Duplication
 33
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 4
 
 
8
Deletion
 19
 
 
8
Duplication
 11
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 3
 
 
8
Duplication
 8
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 2
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 2
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 4
 
 
8
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 2
 
 
9
Deletion-Duplication
 14
 
 
9
Duplication
 5
 
 
9
Duplication
 3
 
 
9
Duplication
 1
 
 
9
Duplication
 3
 
 
9
Deletion
 2
 
 
9
N/A
 3
 
 
9
Deletion
 7
 
 
9
Deletion
 5
 
 
9
Deletion-Duplication
 10
 
 
9
Duplication
 2
 
 
9
Duplication
 1
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Deletion
 2
 
 
9
N/A
 2
 
 
9
Deletion
 5
 
 
9
Deletion-Duplication
 21
 
 
9
Deletion-Duplication
 24
 
 
9
Duplication
 1
 
 
9
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 4
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 13
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 4
 
 
9
Deletion-Duplication
 9
 
 
9
N/A
 2
 
 
9
Duplication
 2
 
 
9
Deletion-Duplication
 9
 
 
9
Deletion-Duplication
 40
 
 
9
Deletion
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 24
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 12
 
 
X
Duplication
 1
 
 
X
Duplication
 5
 
 
X
Deletion-Duplication
 15
 
 
X
Duplication
 1
 
 
X
Deletion
 1
 
 
X
Deletion
 4
 
 
X
Deletion-Duplication
 25
 
 
X
Duplication
 5
 
 
X
Deletion
 17
 
 
X
Deletion
 3
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion
 1
 
 
X
Duplication
 6
 
 
X
Deletion-Duplication
 17
 
 
X
Deletion
 1
 
 
X
Duplication
 2
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion
 7
 
 
X
Deletion-Duplication
 17
 
 
X
Duplication
 6
 
 
X
Deletion-Duplication
 44
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion-Duplication
 10
 
 
X
Duplication
 2
 
 
X
Deletion-Duplication
 2
 
 
X
Deletion
 1
 
 
X
Deletion
 4
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Deletion
 2
 
 
X
Deletion
 1
 
 
X
Duplication
 4
 
 
X
Deletion
 5
 
 
X
Duplication
 5
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 18
 
 
X
Duplication
 2
 
 
X
Deletion
 2
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 10
 
 
X
Duplication
 2
 
 
X
Duplication
 2
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 14
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 8
 
 
X
Duplication
 5
 
 
X
Duplication
 1
 
 
X
Deletion
 11
 
 
X
Deletion-Duplication
 14
 
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 7
 
 
X
Deletion
 1
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion
 4
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion
 2
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion
 7
 
 
X
Deletion-Duplication
 65
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  CG1718
 CG1718
 Drosophila melanogaster
 
 1
 3
 
  Actl6b
 actin-like 6B [Mus musculus
 Mus musculus
 NA
 1
 3
 
  Adnp
 Activity-dependent neuroprotective protein
 Mus musculus
 
 8
 14
 
 Adenosine A2a receptor
 Mus musculus
 Unknown
 2
 2
 
  Ahi1
 Abelson helper integration site 1
 Mus musculus
 Unknown
 4
 5
 
 Aldehyde Dehydrogenase family 5, subfamily A1
 Mus musculus
 Unknown
 1
 4
 
  Ambra1
 autophagy and beclin 1 regulator 1
 Mus musculus
 11p11.2
 2
 1
 
  Ank2
 ankyrin 2, brain
 Mus musculus
 
 2
 5
 
 ankyrin repeat domain 11
 Mus musculus
 Unknown
 2
 3
 
  Anks1b
 ankyrin repeat and sterile alpha motif domain containing 1B
 Mus musculus
 
 1
 2
 
  Apba2
 amyloid beta (A4) precursor protein-binding, family A, member 2
 Mus musculus
 Unknown
 1
 2
 
  Apc
 adenomatosis polyposis coli
 Mus musculus
 
 1
 2
 
  App
 amyloid beta (A4) precursor protein
 Mus musculus
 
 1
 1
 
 Rho GTPase activating protein 32
 Mus musculus
 
 1
 3
 
 Rho GTPase activating protein 33
 Mus musculus
 
 1
 6
 
 Rho guanine nucleotide exchange factor (GEF) 10
 Mus musculus
 
 1
 1
 
  Arid1b
 AT rich interactive domain 1B (SWI-like)
 Mus musculus
 
 5
 16
 
  arnt2
 aryl-hydrocarbon receptor nuclear translocator 2
 Danio rerio
 
 1
 1
 
  arxa
 aristaless related homeobox a
 Danio rerio
 Yes, in zebrafish, the synteny block (PDK3-PCYT1B-POLA1-ARX) is split into pdk3a-pcyt1ba and pola1-arxa.
 1
 4
 
  Arx
 aristaless related homeobox
 Mus musculus
 Unknown
 4
 5
 
  ash1
 absent, small, or homeotic discs 1
 Drosophila melanogaster
 
 1
 2
 
  Ash1l
 ash1 (absent, small, or homeotic)-like
 Mus musculus
 
 4
 11
 
  Aspm
 assembly factor for spindle microtubules
 Mus musculus
 NA
 1
 1
 
  Atg7
 Autophagy related 7
 Mus musculus
 
 1
 2
 
  Atp1a3
 Sodium potassium ATPase alpha 3 subunit
 Mus musculus
 Unknown
 1
 2
 
  Atp2b2
 ATPase, Ca++ transporting, plasma membrane 2
 Mus musculus
 
 1
 1
 
  Atp8a1
 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
 Mus musculus
 Chromosome 4 (human)
 1
 2
 
  Atrnl1
 Attractin like 1
 Mus musculus
 Unknown
 1
 3
 
  auts2a
 autism susceptibility candidate 2a
 Danio rerio
 
 2
 9
 
  Auts2
 Autism susceptibility candidate 2
 Mus musculus
 
 4
 21
 
  Avp
 arginine vasopressin
 Rattus norvegicus
 
 1
 6
 
  Avpr1a
 Arginine vasopressin receptor 1A
 Mus musculus
 Unknown
 3
 2
 
  Baiap2
 brain-specific angiogenesis inhibitor 1-associated protein 2
 Mus musculus
 Unknown
 2
 4
 
  Bckdk
 branched chain ketoacid dehydrogenase kinase
 Mus musculus
 
 3
 3
 
  Bckdk
 branched chain ketoacid dehydrogenase kinase
 Rattus norvegicus
 
 1
 1
 
  Bcl11a
 B cell CLL/lymphoma 11A (zinc finger protein)
 Mus musculus
 2p16.1
 2
 2
 
  Bdnf
 brain derived neurotrophic factor
 Mus musculus
 
 1
 1
 
  Brinp1
 BMP/RA-inducible neural-specific protein 1
 Mus musculus
 Unknown
 2
 3
 
  Brinp3
 BMP/retinoic acid inducible neural specific 3
 Mus musculus
 NA
 1
 1
 
  cac
 cacophony
 Drosophila melanogaster
 
 1
 4
 
 calcium channel, voltage-dependent, L type, alpha 1C subunit
 Danio rerio
 12p13.33
 1
 6
 
 calcium channel, voltage-dependent, L type, alpha 1C subunit
 Mus musculus
 Unknown
 8
 13
 
 calcium voltage-gated channel subunit alpha1 C
 Rattus norvegicus
 Unknown
 2
 1
 
 Calcium channel, voltage dependent, alpha 1F subunit
 Mus musculus
 
 1
 1
 
 Calcium channel, voltage dependent, T type, alpha 1G subunit
 Mus musculus
 Unknown
 4
 6
 
 calcium channel, voltage-dependent, T type, alpha 1H subunit
 Mus musculus
 Unknown
 1
 1
 
  stj
 straightjacket
 Drosophila melanogaster
 
 1
 6
 
 calcium channel, voltage-dependent, alpha2/delta subunit 3
 Mus musculus
 3p21.1-p14.3
 1
 2
 
  Cadm1
 cell adhesion molecule 1
 Mus musculus
 Unknown
 2
 4
 
  Cadps2
 Ca2+-dependent activator protein for secretion 2
 Mus musculus
 Yes
 5
 5
 
  Camk2a
 calcium/calmodulin-dependent protein kinase II alpha
 Mus musculus
 
 1
 2
 
 RNA granule protein 105 (Caprin 1)
 Mus musculus
 Unknown
 1
 2
 
  Cbln1
 Cerebellin 1 precursor protein
 Mus musculus
 
 3
 7
 
  Cc2d1a
 Coiled-coil and C2 domain containing 1A
 Mus musculus
 
 2
 10
 
  Cd38
 CD38 antigen
 Mus musculus
 Unknown
 3
 2
 
  Cdk2
 Cyclin-dependent kinase 2
 Drosophila melanogaster
 
 1
 2
 
  Cdkl5
 cyclin-dependent kinase-like 5
 Mus musculus
 
 3
 10
 
  Celf4
 CUGBP, Elav-like family member 4
 Mus musculus
 
 1
 7
 
  Celf6
 CUGBP, Elav-like family member 6
 Mus musculus
 
 1
 1
 
  cep290
 centrosomal protein 290
 Danio rerio
 
 1
 2
 
  chd2
 chromodomain helicase DNA binding protein 2
 Danio rerio
 
 1
 1
 
  Chd2
 chromodomain helicase DNA binding protein 2
 Mus musculus
 
 2
 5
 
  Chd5
 chromodomain helicase DNA binding protein 5
 Mus musculus
 
 1
 2
 
  kis
 kismet
 Drosophila melanogaster
 14q11.2
 2
 37
 
  Chd7
 chromodomain helicase DNA binding protein 7
 Mus musculus
 
 2
 4
 
  chd8
 chromodomain helicase DNA binding protein 8
 Danio rerio
 
 2
 22
 
  kis
 kismet
 Drosophila melanogaster
 
 2
 37
 
  Chd8
 chromodomain helicase DNA binding protein 8
 Mus musculus
 
 13
 33
 
  Cic
 capicua transcriptional repressor
 Mus musculus
 19q13.2
 1
 8
 
  Clstn3
 calsyntenin 3
 Mus musculus
 
 1
 1
 
  Cntn4
 contactin 4
 Mus musculus
 Unknown
 3
 3
 
 contactin associated protein-like 1
 Mus musculus
 Unknown
 1
 3
 
 contactin associated protein like 2a
 Danio rerio
 
 2
 15
 
  Nrx-IV
 Neurexin IV
 Drosophila melanogaster
 
 1
 8
 
 contactin associated protein-like 2
 Mus musculus
 Unknown
 16
 45
 
 contactin associated protein-like 2
 Rattus norvegicus
 Unknown
 2
 1
 
 contactin associated protein-like 4
 Mus musculus
 
 1
 7
 
 
 https://mouse.brain-map.org/experiment/show?id=756
 
 0
 0
 
  Crhr2
 Corticotropin releasing hormone receptor 2
 Mus musculus
 
 1
 2
 
  Csnk1d
 casein kinase 1, delta
 Mus musculus
 
 1
 3
 
  Csnk1e
 casein kinase 1, epsilon
 Mus musculus
 
 1
 1
 
  ctnnb1
 catenin (cadherin associated protein), beta 1
 Mus musculus
 Not reported
 1
 1
 
 catenin (cadherin-associated protein), delta 2b
 Danio rerio
 
 1
 20
 
 Adherens junction protein p120
 Drosophila melanogaster
 
 1
 2
 
  Ctnnd2
 Catenin(cadherin associated protein), delta 2
 Mus musculus
 
 1
 1
 
 cortactin binding protein 2 
 Mus musculus
 
 2
 19
 
  Cul3
 cullin 3
 Mus musculus
 
 5
 17
 
  Cxcr3
 chemokine (C-X-C motif) receptor 3
 Mus musculus
 Unknown
 1
 1
 
  Cyfip1
 Cytoplasmic FMR1 interacting protein 1
 Mus musculus
 
 2
 3
 
  Dab1
 Disabled homolog 1
 Mus musculus
 Unknown
 1
 1
 
  Dab1
 DAB1, reelin adaptor protein
 Rattus norvegicus
 Unknown
 1
 1
 
  Dagla
 diacylglycerol lipase, alpha
 Mus musculus
 
 1
 4
 
  Ddx3x
 DEAD-box helicase 3 X-linked
 Mus musculus
 NA
 1
 1
 
  Deaf1
 Deformed epidermal autoregulatory factor-1
 Drosophila melanogaster
 
 1
 17
 
  Deaf1
 Deformed epidermal autoregulatory factor 1
 Mus musculus
 11p15.5
 3
 9
 
  Dhcr7
 7-dehydrocholesterol reductase
 Mus musculus
 
 3
 5
 
  Dip2a
 disco interacting protein 2 homolog A
 Mus musculus
 
 1
 2
 
  Disc1
 Disrupted in schizophrenia 1
 Mus musculus
 Unknown
 7
 13
 
  Disc1
 Disrupted in schizophrenia 1
 Rattus norvegicus
 Unknown
 1
 2
 
  dlg1
 discs large 1
 Drosophila melanogaster
 
 2
 7
 
  Dlg4
 discs, large homolog 4 (Drosophila)
 Mus musculus
 Unknown
 4
 4
 
  Dlgap1
 DLG associated protein 1
 Mus musculus
 
 2
 4
 
  Dlgap2
 DLG associated protein 2
 Mus musculus
 NA
 1
 2
 
  Dmd
 Dystrophin, muscular dystrophy
 Mus musculus
 Unknown
 5
 6
 
  Dmpk
 dystrophia myotonica-protein kinase
 Mus musculus
 Unknown
 1
 2
 
  Dnmt3a
 DNA methyltransferase 3A
 Mus musculus
 NA
 2
 2
 
  Dpp6
 dipeptidyl peptidase 6
 Mus musculus
 
 1
 1
 
  Dpysl3
 dihydropyrimidinase-like 3
 Mus musculus
 Not known
 1
 1
 
  Drd1
 Dopamine receptor D1
 Mus musculus
 
 1
 2
 
  Drd1
 dopamine receptor D1
 Rattus norvegicus
 
 2
 5
 
  Drd3
 Dopamine receptor 3
 Mus musculus
 Unknown
 2
 3
 
  Drd4
 dopamine receptor D4
 Mus musculus
 Unknown
 1
 1
 
  Dscam1
 Down syndrome cell adhesion molecule 1
 Drosophila melanogaster
 
 1
 1
 
  Dscam
 Down syndrome cell adhesion molecule
 Mus musculus
 
 5
 11
 
  Dvl1
 Dishevelled segment polarity protein 1
 Mus musculus
 
 1
 8
 
  Dvl3
 Dishevelled segment polarity protein 3
 Mus musculus
 
 1
 5
 
 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, a
 Danio rerio
 
 1
 2
 
  mnb
 minibrain
 Drosophila melanogaster
 
 2
 10
 
  Dyrk1a
 dual specificity tyrosine-Y- phosphorylation regulated kinase 1a
 Mus musculus
 
 3
 3
 
  kn
 knot
 Drosophila melanogaster
 
 1
 15
 
  Eef1a2
 eukaryotic translation elongation factor 1 alpha 2
 Mus musculus
 
 1
 7
 
  G9a
 G9a
 Drosophila melanogaster
 
 2
 14
 
  Eif4e
 Eukaryotic translation initiation factor 4E
 Mus musculus
 4q23
 2
 5
 
 eukaryotic translation initiation factor 4E binding protein 2
 Mus musculus
 
 1
 5
 
  Eif4g1
 eukaryotic translation initiation factor 4, gamma 1
 Mus musculus
 
 1
 2
 
  En2
 Engrailed 2
 Mus musculus
 Unknown
 6
 5
 
  Epha6
 Eph receptor A6
 Mus musculus
 Unknown
 1
 1
 
  Eph
 Eph receptor tyrosine kinase
 Drosophila melanogaster
 
 1
 2
 
  Eps8
 epidermal growth factor receptor pathway substrate 8
 Mus musculus
 
 1
 1
 
  Erbb4
 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
 Mus musculus
 Unknown
 3
 2
 
  Erbin
 Erbb2 interacting protein
 Mus musculus
 
 1
 2
 
  Esr2
 estrogen receptor 2
 Rattus norvegicus
 
 1
 1
 
  Esrrb
 Estrogen related receptor, beta
 Mus musculus
 Unknown
 1
 2
 
  Ext1
 exostoses (multiple) 1
 Mus musculus
 
 1
 1
 
 family with sequence similarity 19 member A1, C-C motif chemokine like
 Danio rerio
 
 1
 1
 
 family with sequence similarity 19, member A3
 Mus musculus
 
 1
 2
 
  Fezf2
 Fez family zinc finger 2
 Mus musculus
 Unknown
 1
 1
 
  Fgfr2
 fibroblast growth factor receptor 2
 Mus musculus
 
 1
 6
 
  fmr1
 fragile X mental retardation 1
 Danio rerio
 
 3
 3
 
  Fmr1
 CG6203 gene product from transcript CG6203-RC
 Drosophila melanogaster
 
 9
 56
 
  Fmr1
 fragile X mental retardation syndrome 1 homolog
 Mus musculus
 Unknown
 41
 64
 
  Fmr1
 fragile X mental retardation syndrome 1 homolog
 Rattus norvegicus
 Unknown
 4
 3
 
  Folh1
 folate hydrolase
 Mus musculus
 -
 2
 4
 
  Foxg1
 Forkhead box G1
 Mus musculus
 Unknown
 3
 8
 
  Foxp1
 forkhead box P1
 Mus musculus
 Unknown
 5
 8
 
  FoxP
 Forkhead box P
 Drosophila melanogaster
 
 2
 14
 
  Foxp2
 forkhead box P2
 Mus musculus
 Unknown
 5
 8
 
  Gabra5
 Gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5
 Mus musculus
 Unreported
 1
 1
 
  Gabrb2
 gamma-aminobutyric acid (GABA) A receptor, subunit beta 2
 Mus musculus
 
 
 1
 8
 
  Lcch3
 Ligand-gated chloride channel homolog 3
 Drosophila melanogaster
 
 1
 2
 
  Gabrb3
 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
 Mus musculus
 Unknown
 8
 22
 
  Gad1
 glutamate decarboxylase 1
 Mus musculus
 
 1
 1
 
 growth arrest and DNA-damage-inducible 45 beta
 Mus musculus
 
 1
 1
 
 growth arrest and DNA-damage-inducible, beta
 Rattus norvegicus
 
 1
 1
 
  Gap43
 growth associated protein 43
 Mus musculus
 Unknown
 1
 1
 
  Gyf
 Gigyf
 Drosophila melanogaster
 
 1
 2
 
  Glra2
 glycine receptor, alpha 2 subunit
 Mus musculus
 Unknown
 1
 1
 
 G protein alpha q subunit
 Drosophila melanogaster
 
 1
 2
 
  Gria2
 Glutamate receptor, ionotropic, AMPA 2
 Mus musculus
 Unknown
 1
 1
 
  Grid1
 glutamate receptor, ionotropic, delta 1
 Mus musculus
 
 1
 1
 
  Grid2
 glutamate receptor, ionotropic, delta 2
 Mus musculus
 
 1
 2
 
  Grik2
 glutamate receptor, ionotropic, kainate 2 (beta 2)
 Mus musculus
 
 2
 4
 
  Grik4
 Glutamate receptor, ionotropic, kainate 4
 Mus musculus
 
 4
 12
 
  Grin1
 glutamate receptor, ionotropic, NMDA1 (zeta 1)
 Mus musculus
 
 3
 7
 
  Nmdar2
 NMDA receptor 2
 Drosophila melanogaster
 
 1
 2
 
  Grin2b
 glutamate receptor, ionotropic, NMDA2B (epsilon 2)
 Mus musculus
 
 5
 10
 
  Grip1
 glutamate receptor interacting protein 1
 Mus musculus
 Unknown
 2
 3
 
  Grm5
 glutamate receptor, metabotropic 5
 Mus musculus
 
 3
 12
 
  Grm8
 glutamate receptor, metabotropic 8
 Mus musculus
 Unknown
 1
 1
 
  Grpr
 gastrin releasing peptide receptor
 Mus musculus
 Unknown
 3
 5
 
  Gsc2
 goosecoid homebox 2
 Mus musculus
 Unknown
 1
 1
 
  Gsk3b
 glycogen synthase kinase 3 beta
 Mus musculus
 Unknown
 1
 1
 
  Gstm1
 Glutathione S-transferase, mu 1
 Mus musculus
 Unknown
 1
 1
 
  Gtf2i
 general transcription factor II I
 Mus musculus
 Unknown
 1
 2
 
  Hcn1
 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
 Rattus norvegicus
 
 1
 4
 
  Hdac3
 Histone deacetylase 3
 Mus musculus
 5q31
 1
 1
 
  Hdac4
 Histone deacetylase 4
 Mus musculus
 Unknown
 1
 2
 
  Hdc
 histidine decarboxylase
 Mus musculus
 
 2
 20
 
  hgfa
 hepatocyte growth factor a
 Danio rerio
 
 1
 2
 
  Hmgn1
 High mobility group nucleosomal binding domain 1
 Mus musculus
 Unknown
 1
 2
 
  Homer1
 homer homolog 1
 Mus musculus
 
 3
 4
 
&n