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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
GEN268 ABAT 4-aminobutyrate aminotransferase 16p13.2 Genetic Association
N
2 4 Barnby G , et al. 2005 Edit
GEN749 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 17q24.3 Rare single gene variant
N
Yes 4 1 Lim ET , et al. 2013 Edit
GEN590 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 19p13.3 Rare single gene variant
N
11 2 He Z , et al. 2013 Edit
GEN822 ACE angiotensin I converting enzyme 17q23.3 Rare single gene variant
N
3 2 Dome JS and D'Angio GJ 2016 Edit
GEN672 ACTN4 Actinin, alpha 4 19q13.2 Rare single gene variant
N
3 3 Li J , et al. 2015 Edit
GEN567 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 16q23.1 Rare single gene variant
N
Yes 3 3 Peluso I , et al. 2013 Edit
GEN407 ADARB1 Adenosine deaminase, RNA-specific, B1 21q22.3 Functional
N
1 2 Eran A , et al. 2012 Edit
GEN274 ADK adenosine kinase 10q22.2 Rare Single Gene variant
N
Yes 2 2 Najmabadi H , et al. 2011 Edit
GEN562 ADORA3 Adenosine A3 receptor 1p13.2 Functional
N
6 2 Campbell NG , et al. 2013 Edit
GEN889 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 12q14.1 Rare single gene variant
N
11 3 De Rubeis S , et al. 2014 Edit
GEN333 AGBL4 ATP/GTP binding protein-like 4 1p33 Rare Single Gene variant
N
16 3 Pinto D , et al. 2010 Edit
GEN1003 AGO1 argonaute 1, RISC catalytic component 1p34.3 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN824 AHDC1 AT-hook DNA binding motif containing 1 1p36.11-p35.3 Syndromic
N
32 9 Iossifov I , et al. 2014 Edit
GEN510 ALDH1A3 aldehyde dehydrogenase 1 family member A3 15q26.3 Syndromic
N
Yes 9 5 Fares-Taie L , et al. 2013 Edit
GEN830 ALG6 ALG6, alpha-1,3-glucosyltransferase 1p31.3 Syndromic
N
0 1 Morava E , et al. 2016 Edit
GEN981 AMBRA1 autophagy and beclin 1 regulator 1 11p11.2 Functional
N
2 3 Dere E , et al. 2014 Edit
GEN631 AMPD1 Adenosine monophosphate deaminase 1 1p13.2 Genetic association
N
7 3 Xia K , et al. 2013 Edit
GEN406 ANK3 ankyrin 3 10q21.2 Genetic Association
N
30 23 Bi C , et al. 2012 Edit
GEN011 ANKRD11 ankyrin repeat domain 11 16q24.3 Rare Single Gene variant
N
61 36 Marshall CR , et al. 2008 Edit
GEN673 ANKS1B Ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 Rare single gene variant
N
3 1 Li J , et al. 2015 Edit
GEN012 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 15q13.1 Rare Single Gene variant
N
11 6 Babatz TD , et al. 2009 Edit
GEN1014 APBB1 amyloid beta precursor protein binding family B member 1 11p15.4 Functional
N
5 3 Iossifov I , et al. 2014 Edit
GEN655 APH1A APH1A gamma secretase subunit 1q21.2 Rare single gene variant
N
3 2 De Rubeis S , et al. 2014 Edit
GEN570 APP Amyloid beta (A4) precursor protein 21q21.3 Functional
N
0 3 Bailey AR , et al. 2013 Edit
GEN317 ARHGAP11B Rho GTPase activating protein 11B 15q13.2 Rare Single Gene variant
N
2 1 Leblond CS , et al. 2012 Edit
GEN816 ARHGAP32 Rho GTPase activating protein 32 11q24.3 Multigenic CNV
N
22 4 Akshoomoff N , et al. 2014 Edit
GEN713 ARHGAP33 Rho GTPase activating protein 33 19q13.12 Functional
N
1 2 Schuster S , et al. 2015 Edit
GEN1002 ARHGAP5 Rho GTPase activating protein 5 14q12 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN016 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 15q25.1 Syndromic
N
7 11 Chakrabarti B , et al. 2009 Edit
GEN642 ASH1L Ash1 (absent, small, or homeotic)-like (Drosophila) 1q22 Rare single gene variant
N
41 12 Willsey AJ , et al. 2013 Edit
GEN939 ASPM abnormal spindle microtubule assembly 1q31.3 Syndromic
N
55 5 Iossifov I , et al. 2014 Edit
GEN577 ASXL3 Additional sex combs like 3 (Drosophila) 18q12.1 Syndromic
N
54 17 Dinwiddie DL , et al. 2013 Edit
GEN021 ATP10A Probable phospholipid-transporting ATPase VA 15q12 Genetic Association
N
9 7 Nurmi EL , et al. 2003 Edit
GEN829 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19q13.2 Syndromic
N
13 12 Demos MK , et al. 2014 Edit
GEN941 ATP6V0A2 ATPase H+ transporting V0 subunit a2 12q24.31 Rare single gene variant
N
20 2 Krumm N , et al. 2015 Edit
GEN411 ATRNL1 Attractin-like 1 10q25.3 Rare single gene variant
N
1 1 Stark Z , et al. 2010 Edit
GEN023 AVPR1A arginine vasopressin receptor 1A 12q14.2 Rare Single Gene variant, Genetic Association
N
34 21 Yirmiya N , et al. 2006 Edit
GEN862 AVPR1B arginine vasopressin receptor 1B 1q32.1 Functional
N
5 8 Francis SM , et al. 2016 Edit
GEN024 BAIAP2 BAI1-associated protein 2 17q25.3 Genetic Association
N
5 10 Toma C , et al. 2010 Edit
GEN515 BBS4 Bardet-Biedl syndrome 4 15q24.1 Rare single gene variant
N
4 3 Girirajan S , et al. 2013 Edit
GEN423 BCKDK Branched chain ketoacid dehydrogenase kinase 16p11.2 Rare single gene variant
N
Yes 5 3 Novarino G , et al. 2012 Edit
GEN025 BCL2 B-cell CLL/lymphoma 2 18q21.33 Functional
N
0 10 Nguyen A , et al. 2010 Edit
GEN625 BDNF Brain-derived neurotrophic factor 11p14.1 Functional
N
1 10 Kyzar EJ , et al. 2012 Edit
GEN040 BICDL1 BICD family like cargo adaptor 1 12q24.23 Genetic Association
N
2 2 Wang K , et al. 2009 Edit
GEN337 BRCA2 breast cancer 2, early onset 13q13.1 Rare Single Gene variant
N
4 3 Neale BM , et al. 2012 Edit
GEN970 BRD4 bromodomain containing 4 19p13.12 Rare single gene variant
N
7 4 Iossifov I , et al. 2012 Edit
GEN298 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) 10q23.32 Rare Single Gene variant
N
6 5 Salyakina D , et al. 2011 Edit
GEN544 C12orf57 Chromosome 12 open reading frame 57 12p13.31 Syndromic
N
32 10 Akizu N , et al. 2013 Edit
GEN955 C15orf62 chromosome 15 open reading frame 62 15q15.1 Rare single gene variant
N
2 2 O'Roak BJ , et al. 2012 Edit
GEN030 CA6 carbonic anhydrase VI 1p36.23 Rare Single Gene variant
N
4 6 Bucan M , et al. 2009 Edit
GEN707 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 19p13.13 Rare single gene variant
N
17 11 Damaj L , et al. 2015 Edit
GEN031 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 Syndromic
N
39 39 Splawski I , et al. 2004 Edit
GEN813 CACNA1E calcium voltage-gated channel subunit alpha1 E 1q25.3 Rare single gene variant
N
4 8 O'Roak BJ , et al. 2012 Edit
GEN034 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 17q21.33 Genetic Association
N
32 18 Strom SP , et al. 2009 Edit
GEN035 CACNA1H calcium channel, voltage-dependent, alpha 1H subunit 16p13.3 Rare Single Gene variant
N
22 21 Splawski I , et al. 2006 Edit
GEN612 CACNB2 Calcium channel, voltage-dependent, beta 2 subunit 10p12.33-p12.31 Genetic association
N
6 4 Breitenkamp AF , et al. 2014 Edit
GEN036 CADM1 cell adhesion molecule 1 11q23.3 Rare Single Gene variant
N
5 9 Zhiling Y , et al. 2008 Edit
GEN322 CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 1q32.1 Rare Single Gene variant
N
1 1 Leblond CS , et al. 2012 Edit
GEN291 CAMTA1 calmodulin binding transcription activator 1 1p36.31-p36.23 Rare single gene variant
N
11 7 Mikhail FM , et al. 2011 Edit
GEN772 CAPN12 Calpain 12 19q13.2 Rare single gene variant
N
28 4 Sanders SJ , et al. 2015 Edit
GEN555 CAPRIN1 Cell cycle associated protein 1 11p13 Functional
N
1 3 Jiang YH , et al. 2013 Edit
GEN038 CASC4 cancer susceptibility candidate 4 15q15.3 Rare Single Gene variant
N
7 4 Pinto D , et al. 2010 Edit
GEN897 CBLN1 cerebellin 1 precursor 16q12.1 Functional
N
1 6 Krishnan V , et al. 2017 Edit
GEN039 CBS cystathionine beta-synthase 21q22.3 Functional, Negative association
N
2 5 Levy HL , et al. 2002 Edit
GEN621 CC2D1A Coiled-coil and C2 domain containing 1A 19p13.12 Rare single gene variant
N
Yes 17 9 Manzini MC , et al. 2014 Edit
GEN735 CCDC88C Coiled-coil domain containing 88C 14q32.11-q32.12 Rare single gene variant
N
6 5 Krumm N , et al. 2015 Edit
GEN799 CCDC91 coiled-coil domain containing 91 12p11.22 Rare single gene variant
N
2 3 Shen Y , et al. 2010 Edit
GEN969 CD276 CD276molecule 15q24.1 Rare single gene variant
N
3 1 Li J , et al. 2017 Edit
GEN041 CD44 CD44 molecule (Indian blood group) 11p13 Functional
N
1 4 Hu VW , et al. 2006 Edit
GEN657 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) 14q32.32 Rare single gene variant
N
19 6 O'Roak BJ , et al. 2012 Edit
GEN615 CDH11 cadherin 11 16q21 Rare Single Gene variant/genetic association
N
8 3 Crepel A , et al. 2014 Edit
GEN044 CDH8 cadherin 8, type 2 16q21 Rare Single Gene variant
N
8 9 Pagnamenta AT , et al. 2010 Edit
GEN532 CDKN1B cyclin dependent kinase inhibitor 1B 12p13.1 Multigenic CNV/rare single gene variant
N
Yes 2 1 Grey W , et al. 2013 Edit
GEN487 CELF4 CUGBP, Elav-like family member 4 18q12.2 Functional
N
5 9 Halgren C , et al. 2012 Edit
GEN523 CELF6 CUGBP, Elav-like family member 6 15q23 Genetic association/Rare single gene variant/Functional
N
3 2 Dougherty JD , et al. 2013 Edit
GEN583 CEP290 Centrosomal protein 290kDa 12q21.32 Syndromic
N
10 6 Coppieters F , et al. 2010 Edit
GEN718 CGNL1 Cingulin-like 1 15q21.3 Rare single gene variant
N
3 3 Krumm N , et al. 2015 Edit
GEN548 CHD2 Chromodomain helicase DNA binding protein 2 15q26.1 Multigenic CNV
N
45 27 Carvill GL , et al. 2013 Edit
GEN912 CHD5 chromodomain helicase DNA binding protein 5 1p36.31 Rare single gene variant
N
2 4 Pisansky MT , et al. 2017 Edit
GEN334 CHD8 chromodomain helicase DNA binding protein 8 14q11.2 Rare Single Gene variant
N
77 27 O'Roak BJ , et al. 2012 Edit
GEN949 CHMP1A charged multivesicular body protein 1A 16q24.3 Syndromic
N
8 5 De Rubeis S , et al. 2014 Edit
GEN490 CHRM3 cholinergic receptor muscarinic 3 1q43 Multigenic CNV
N
6 5 Petersen AK , et al. 2012 Edit
GEN292 CHRNA7 cholinergic receptor, nicotinic, alpha 7 15q13.3 Multigenic CNV
N
30 13 Mikhail FM , et al. 2011 Edit
GEN048 CHST5 carbohydrate sulfotransferase 5 16q23.1 Rare Single Gene variant
N
1 5 O'Roak BJ , et al. 2011 Edit
GEN500 CIB2 Calcium and integrin binding family member 2 15q25.1 Rare single gene variant
N
3 1 Prasad A , et al. 2013 Edit
GEN882 CIC capicua transcriptional repressor 19q13.2 Rare single gene variant
N
9 4 Iossifov I , et al. 2014 Edit
GEN579 CLSTN3 Calsyntenin 3 12p13.31 Functional
N
1 2 Pettem KL , et al. 2013 Edit
GEN382 CMIP c-Maf inducing protein 16q23.2-q23.3 Genetic Association
N
20 6 Van der Aa N , et al. 2012 Edit
GEN866 CNOT3 CCR4-NOT transcription complex subunit 3 19q13.42 Rare single gene variant
N
9 3 Deciphering Developmental Disorders Study 2017 Edit
GEN537 CNR2 Cannabinoid receptor 2 (macrophage) 1p36.11 Genetic association
N
4 4 Siniscalco D , et al. 2013 Edit
GEN385 CNTN5 Contactin 5 11q22.1 Rare single gene variant
N
31 9 van Daalen E , et al. 2011 Edit
GEN616 CNTNAP4 Contactin associated protein-like 4 16q23.1 Rare Single Gene variant
N
19 11 Karayannis T , et al. 2014 Edit
GEN963 CPT2 carnitine palmitoyltransferase 2 1p32.3 Rare single gene variant
N
5 2 Li J , et al. 2017 Edit
GEN285 CREBBP CREB binding protein 16p13.3 Syndromic
N
82 21 Barnby G , et al. 2005 Edit
GEN330 CSNK1D casein kinase 1, delta 17q25.3 Rare Single Gene variant
N
2 1 Pinto D , et al. 2010 Edit
GEN549 CTCF CCCTC-binding factor 16q22.1 Functional
N
14 12 Ishihara K , et al. 2006 Edit
GEN053 CTNNA3 catenin (cadherin-associated protein), alpha 3 10q21.3 Genetic Association
N
Yes 56 14 Wang K , et al. 2009 Edit
GEN1011 CUX2 cut like homeobox 2 12q24.11-q24.12 Rare single gene variant
N
11 7 De Rubeis S , et al. 2014 Edit
GEN320 CYFIP1 cytoplasmic FMR1 interacting protein 1 15q11.2 Multigenic CNV
N
9 15 Leblond CS , et al. 2012 Edit
GEN057 DAB1 disabled homolog 1 (Drosophila) 1p32.2-p32.1 Functional
N
1 7 Fatemi SH , et al. 2005 Edit
GEN508 DAGLA diacylglycerol lipase alpha 11q12.2 Rare single gene variant
N
37 4 Prasad A , et al. 2013 Edit
GEN059 DCTN5 dynactin 5 16p12.2 Rare Single Gene variant
N
1 3 O'Roak BJ , et al. 2011 Edit
GEN062 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 12p11.21 Functional
N
0 3 Hu VW , et al. 2006 Edit
GEN610 DEAF1 DEAF1 transcription factor 11p15.5 Rare single gene variant
N
28 14 Vulto-van Silfhout AT , et al. 2014 Edit
GEN825 DENR density-regulated protein 12q24.31 Rare single gene variant
N
2 2 Neale BM , et al. 2012 Edit
GEN675 DGKZ Diacylglycerol kinase, zeta 11p11.2 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN063 DHCR7 7-dehydrocholesterol reductase 11q13.4 Syndromic
N
21 15 Tierney E , et al. 2001 Edit
GEN064 DIAPH3 Diaphanous-related formin 3 13q21.2 Rare Single Gene variant
N
5 11 Vorstman JA , et al. 2010 Edit
GEN644 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) 21q22.3 Rare single gene variant
N
4 4 Iossifov I , et al. 2012 Edit
GEN883 DIP2C disco interacting protein 2 homolog C 10p15.3 Rare single gene variant
N
3 2 Iossifov I , et al. 2014 Edit
GEN065 DISC1 disrupted in schizophrenia 1 1q42.2 Syndromic
N
31 34 Kilpinen H , et al. 2007 Edit
GEN852 DIXDC1 DIX domain containing 1 11q23.1 Functional
N
45 4 Martin PM , et al. 2016 Edit
GEN412 DLG4 discs large MAGUK scaffold protein 4 17p13.1 Functional
N
12 9 Feyder M , et al. 2010 Edit
GEN677 DLGAP1 DLG associated protein 1 18p11.31 Rare single gene variant
N
11 6 Li J , et al. 2015 Edit
GEN550 DLGAP3 DLG associated protein 3 1p34.3 Functional
N
12 7 Welch JM , et al. 2007 Edit
GEN071 DMPK dystrophia myotonica-protein kinase 19q13.32 Syndromic
N
3 7 Ekstrm AB , et al. 2008 Edit
GEN736 DMXL2 Dmx-like 2 15q21.2 Rare single gene variant
N
3 3 Iossifov I , et al. 2014 Edit
GEN703 DNAH10 Dynein, axonemal, heavy chain 10 12q24.31 Rare single gene variant
N
81 5 Iossifov I , et al. 2012 Edit
GEN937 DNAH17 dynein axonemal heavy chain 17 17q25.3 Rare single gene variant
N
4 4 De Rubeis S , et al. 2014 Edit
GEN966 DNAH3 dynein axonemal heavy chain 3 16p12.3 Rare single gene variant
N
127 3 Krumm N , et al. 2015 Edit
GEN427 DNM1L Dynamin 1-like 12p11.21 Functional
N
2 3 Anitha A , et al. 2012 Edit
GEN748 DOCK1 Dedicator of cytokinesis 1 10q26.2 Rare single gene variant
N
2 2 Griswold AJ , et al. 2015 Edit
GEN074 DPYD dihydropyrimidine dehydrogenase 1p21.3 Rare Single Gene variant
N
20 9 Marshall CR , et al. 2008 Edit
GEN358 DRD2 Dopamine receptor D2 11q23.2 Rare single gene variant
N
8 6 Hettinger JA , et al. 2012 Edit
GEN645 DSCAM Down syndrome cell adhesion molecule 21q22.2 Rare single gene variant
N
16 7 Iossifov I , et al. 2014 Edit
GEN796 DVL1 Dishevelled segment polarity protein 1 1p36.33 Functional
N
0 3 Lijam N , et al. 1997 Edit
GEN516 DYDC1 DPY30 domain containing 1 10q23.1 Multigenic CNV
N
7 1 Girirajan S , et al. 2013 Edit
GEN517 DYDC2 DPY30 domain containing 2 10q23.1 Multigenic CNV
N
7 1 Girirajan S , et al. 2013 Edit
GEN888 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 14q32.31 Rare single gene variant
N
14 12 De Rubeis S , et al. 2014 Edit
GEN367 DYRK1A Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13 Syndromic
N
103 33 O'Roak BJ , et al. 2012 Edit
GEN989 EBF3 early B-cell factor 3 10q26.3 Rare single gene variant
N
29 7 Tanaka AJ , et al. 2017 Edit
GEN076 EGR2 early growth response 2 (Krox-20 homolog, Drosophila) 10q21.3 Functional
N
0 4 Hu VW , et al. 2006 Edit
GEN808 EIF3G eukaryotic translation initiation factor 3 subunit G 19p13.2 Rare single gene variant
N
2 3 Iossifov I , et al. 2012 Edit
GEN479 EIF4EBP2 Eukaryotic translation initiation factor 4E binding protein 2 10q22.1 Functional
N
0 1 Gkogkas CG , et al. 2012 Edit
GEN753 ELAVL3 ELAV like neuron-specific RNA binding protein 3 19p13.2 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN733 ELP4 Elongator acetyltransferase complex subunit 4 11p13 Multigenic CNV
N
17 5 Addis L , et al. 2015 Edit
GEN282 EML1 echinoderm microtubule associated protein like 1 14q32.2 Rare Single Gene variant
N
6 2 Schaaf CP , et al. 2011 Edit
GEN669 EMSY EMSY, BRCA2 interacting transcriptional repressor 11q13.5 Rare single gene variant
N
10 3 Gupta S , et al. 2014 Edit
GEN353 EP400 E1A binding protein p400 12q24.33 Rare single gene variant
N
Yes 46 6 Chahrour MH , et al. 2012 Edit
GEN410 EPHB2 EPH receptor B2 1p36.12 Rare single gene variant
N
7 3 Sanders SJ , et al. 2012 Edit
GEN574 EPS8 epidermal growth factor receptor pathway substrate 8 12p12.3 Functional
N
0 1 Menna E , et al. 2013 Edit
GEN404 ERG ERG, ETS transcription factor 21q22.2 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN083 ESR2 estrogen receptor 2 (ER beta) 14q23.2-q23.3 Syndromic
N
4 8 Chakrabarti B , et al. 2009 Edit
GEN084 ESRRB estrogen-related receptor beta 14q24.3 Genetic Association
N
3 7 Wang K , et al. 2009 Edit
GEN658 ETFB Electron-transfer-flavoprotein, beta polypeptide 19q13.41 Rare single gene variant
N
10 3 O'Roak BJ , et al. 2012 Edit
GEN680 EXOC5 Exocyst complex component 5 14q22.3 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN681 EXOC6 Exocyst complex component 6 10q23.33 Rare single gene variant
N
2 1 Li J , et al. 2015 Edit
GEN620 FABP3 Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) 1p35.2 Functional/rare single gene variant
N
1 1 Shimamoto C , et al. 2014 Edit
GEN995 FAM19A2 family with sequence similarity 19 member A2, C-C motif chemokine like 12q14.1 Functional/multigenic CNV
N
4 1 Choi JH , et al. 2018 Edit
GEN992 FAM19A3 family with sequence similarity 19 member A3, C-C motif chemokine like 1p13.2 Multigenic CNV
N
1 2 Kim S , et al. 2017 Edit
GEN720 FAM92B Family with sequence similarity 92, member B 16q24.1 Rare single gene variant
N
3 3 Krumm N , et al. 2015 Edit
GEN589 FAN1 FANCD2/FANCI-associated nuclease 1 15q13.3 Rare single gene variant
N
4 1 Ionita-Laza I , et al. 2013 Edit
GEN754 FBN1 Fibrillin 1 15q21.1 Rare single gene variant
N
8 9 Iossifov I , et al. 2012 Edit
GEN315 FBXO15 F-box protein 15 18q22.3 Rare Single Gene variant
N
3 3 Christian SL , et al. 2008 Edit
GEN088 FBXO33 F-box protein 33 14q21.1 Genetic Association
N
2 3 Wang K , et al. 2009 Edit
GEN946 FCRL6 Fc receptor like 6 1q23.2 Rare single gene variant
N
29 4 Sanders SJ , et al. 2012 Edit
GEN299 FGFBP3 fibroblast growth factor binding protein 3 10q23.32 Rare Single Gene variant
N
1 1 Salyakina D , et al. 2011 Edit
GEN092 FLT1 fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor) 13q12.3 Functional
N
1 4 Hu VW , et al. 2006 Edit
GEN413 FOLH1 folate hydrolase 1 11p11.12 Functional
N
0 2 Han L , et al. 2009 Edit
GEN094 FOXG1 Forkhead box G1 14q12 Syndromic
N
65 24 Kortm F , et al. 2011 Edit
GEN827 GABRA5 gamma-aminobutyric acid type A receptor alpha5 subunit 15q12 Genetic association
N
3 8 Fatemi SH , et al. 2010 Edit
GEN101 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 15q12 Genetic Association
N
Yes 77 36 Cook EH Jr , et al. 1998 Edit
GEN742 GADD45B Growth arrest and DNA-damage-inducible, beta 19p13.3 Functional
N
1 4 Garbett K , et al. 2008 Edit
GEN383 GAN Gigaxonin 16q23.2 Rare single gene variant
N
1 1 Van der Aa N , et al. 2012 Edit
GEN373 GAS2 Growth arrest-specific 2 11p14.3 Genetic association
N
2 1 Weiss LA , et al. 2009 Edit
GEN617 GATM Glycine amidinotransferase (L-arginine:glycine amidinotransferase) 15q21.1 Syndromic
N
2 2 Mercimek-Mahmutoglu S , et al. 2006 Edit
GEN997 GGNBP2 gametogenetin binding protein 2 17q12 Rare single gene variant
N
2 2 De Rubeis S , et al. 2014 Edit
GEN781 GLIS1 GLIS family zinc finger 1 1p32.3 Genetic association
N
3 2 Kuo PH , et al. 2015 Edit
GEN106 GPC6 glypican 6 13q31.3-q32.1 Rare Single Gene variant
N
14 8 Pinto D , et al. 2010 Edit
GEN505 GPHN Gephyrin 14q23.3 Rare single gene variant
N
13 8 Prasad A , et al. 2013 Edit
GEN107 GPR139 G protein-coupled receptor 139 16p12.3 Rare Single Gene variant
N
1 5 O'Roak BJ , et al. 2011 Edit
GEN415 GRID1 Glutamate receptor, ionotropic, delta 1 10q23.1-q23.2 Genetic association
N
6 6 Glessner JT , et al. 2009 Edit
GEN684 GRIK3 Glutamate receptor, ionotropic, kainate 3 1p34.3 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN775 GRIK4 Glutamate receptor, ionotropic, kainate 4 11q23.3 Rare single gene variant
N
2 3 Aller MI , et al. 2015 Edit
GEN722 GRIK5 Glutamate receptor, ionotropic, kainate 5 19q13.2 Rare single gene variant
N
4 6 De Rubeis S , et al. 2014 Edit
GEN110 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 16p13.2 Genetic Association
N
102 35 Barnby G , et al. 2005 Edit
GEN111 GRIN2B glutamate receptor, inotropic, N-methyl D-apartate 2B 12p13.1 Genetic Association
N
156 45 O'Roak BJ , et al. 2011 Edit
GEN112 GRIP1 glutamate receptor interacting protein 1 12q14.3 Rare Single Gene variant, Genetic Association
N
11 12 Mejias R , et al. 2011 Edit
GEN355 GRM5 Glutamate receptor, metabotropic 5 11q14.2-q14.3 Rare single gene variant
N
21 5 Iossifov I , et al. 2012 Edit
GEN115 GSTM1 glutathione S-transferase M1 1p13.3 Genetic Association
N
1 3 Buyske S , et al. 2006 Edit
GEN400 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 11q22.3 Genetic association
N
2 2 Anney R , et al. 2012 Edit
GEN881 HDC histidine decarboxylase 15q21.2 Functional
N
1 6 Castellan Baldan L , et al. 2014 Edit
GEN900 HECTD4 HECT domain E3 ubiquitin protein ligase 4 12q24.13 Rare single gene variant
N
6 3 De Rubeis S , et al. 2014 Edit
GEN118 HEPACAM hepatic and glial cell adhesion molecule 11q24.2 Syndromic
N
28 9 Lpez-Hernndez T , et al. 2011 Edit
GEN431 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 15q13.1 Rare single gene variant
N
Yes 6 6 Puffenberger EG , et al. 2012 Edit
GEN870 HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 1p34.2 Rare single gene variant
N
4 4 Iossifov I , et al. 2014 Edit
GEN303 HMGN1 high mobility group nucleosome binding domain 1 21q22.2 Genetic Association
N
11 1 Abuhatzira L , et al. 2011 Edit
GEN926 HNRNPU heterogeneous nuclear ribonucleoprotein U 1q44 Rare single gene variant
N
25 11 Lim ET , et al. 2017 Edit
GEN123 HOXB1 homeobox B1 17q21.32 Genetic Association
N
0 8 Ingram JL , et al. 2000 Edit
GEN124 HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 11p15.5 Rare Single Gene variant
N
17 11 Hrault J , et al. 1993 Edit
GEN126 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 1q32.2 Syndromic
N
1 8 Chakrabarti B , et al. 2009 Edit
GEN128 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A 13q14.2 Genetic Association
N
11 9 Veenstra-VanderWeele J , et al. 2002 Edit
GEN129 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A 11q23.2 Functional
N
5 7 Anderson BM , et al. 2009 Edit
GEN131 HTR7 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) 10q23.31 Genetic Association
N
6 5 Lassig JP , et al. 1999 Edit
GEN514 HYDIN HYDIN, axonemal central pair apparatus protein 16q22.2 Multigenic CNV
N
5 3 Girirajan S , et al. 2013 Edit
GEN840 IFNG interferon gamma 12q15 Functional
N
0 13 Singh VK 1996 Edit
GEN685 IL16 Interleukin 16 15q25.1 Rare single gene variant
N
3 2 Li J , et al. 2015 Edit
GEN759 ILF2 Interleukin enhancer binding factor 2 1q21.3 Rare single gene variant
N
2 4 Sanders SJ , et al. 2015 Edit
GEN755 INTS6 Integrator complex subunit 6 13q14.3 Rare single gene variant
N
2 4 Iossifov I , et al. 2014 Edit
GEN874 IQGAP3 IQ motif containing GTPase activating protein 3 1q22 Rare single gene variant
N
2 2 Stessman HA , et al. 2017 Edit
GEN763 IRF2BPL Interferon regulatory factor 2 binding protein-like 14q24.3 Rare single gene variant
N
2 3 Sanders SJ , et al. 2015 Edit
GEN137 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 17q21.32 Genetic association
N
8 14 Weiss LA , et al. 2006 Edit
GEN138 ITGB7 integrin, beta 7 12q13.13 Functional
N
1 4 Hu VW , et al. 2006 Edit
GEN139 JMJD1C jumonji domain containing 1C 10q21.3 Rare single gene variant
N
10 7 Castermans D , et al. 2007 Edit
GEN904 KATNAL1 katanin catalytic subunit A1 like 1 13q12.3 Rare single gene variant
N
1 2 C Yuen RK , et al. 2017 Edit
GEN369 KATNAL2 Katanin p60 subunit A-like 2 18q21.1 Rare Single Gene variant
N
16 7 Sanders SJ , et al. 2012 Edit
GEN999 KCND3 potassium voltage-gated channel subfamily D member 3 1p13.2 Genetic association
N
2 8 Iossifov I , et al. 2014 Edit
GEN140 KCNJ10 potassium voltage-gated channel subfamily J member 10 1q23.2 Genetic Association
N
13 10 Sicca F , et al. 2011 Edit
GEN686 KCNJ12 Potassium inwardly-rectifying channel, subfamily J, member 12 17p11.2 Rare single gene variant
N
2 1 Li J , et al. 2015 Edit
GEN687 KCNJ15 Potassium inwardly-rectifying channel, subfamily J, member 15 21q22.13-q22.2 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN614 KCNJ2 Potassium inwardly-rectifying channel, subfamily J, member 2 17q24.3 Rare Single Gene variant
N
2 2 Ambrosini E , et al. 2014 Edit
GEN967 KCNK7 potassium two pore domain channel subfamily K member 7 11q13.1 Rare single gene variant
N
4 1 Li J , et al. 2017 Edit
GEN141 KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 10q22.3 Rare single gene variant
N
9 18 Laumonnier F , et al. 2006 Edit
GEN363 KCTD13 Potassium channel tetramerisation domain containing 13 16p11.2 Rare single gene variant
N
4 6 Golzio C , et al. 2012 Edit
GEN819 KDM4B lysine demethylase 4B 19p13.3 Rare single gene variant
N
10 3 De Rubeis S , et al. 2014 Edit
GEN647 KDM5B Lysine (K)-specific demethylase 5B 1q32.1 Rare single gene variant
N
35 10 Iossifov I , et al. 2014 Edit
GEN648 KDM6B Lysine (K)-specific demethylase 6B 17p13.1 Rare single gene variant
N
27 8 Iossifov I , et al. 2012 Edit
GEN1018 KIF21B kinesin family member 21B 1q32.1 Functional
N
0 3 Gromova KV , et al. 2018 Edit
GEN789 KIRREL3 Kin of IRRE like 3 (Drosophila) 11q24.2 Rare single gene variant
N
25 13 Talkowski ME , et al. 2012 Edit
GEN388 KLC2 Kinesin light chain 2 11q13.2 Rare single gene variant
N
2 2 Awadalla P , et al. 2010 Edit
GEN920 KLF16 Kruppel like factor 16 19p13.3 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN571 KMO kynurenine 3-monooxygenase 1q43 Functional
N
0 1 McFarlane HG , et al. 2007 Edit
GEN700 KMT2A Lysine (K)-specific methyltransferase 2A 11q23.3 Syndromic
N
68 16 De Rubeis S , et al. 2014 Edit
GEN336 KMT5B lysine methyltransferase 5B 11q13.2 Rare Single Gene variant
N
18 9 Sanders SJ , et al. 2012 Edit
GEN586 KPTN kaptin, actin binding protein 19q13.32 Syndromic
N
6 3 Baple EL , et al. 2013 Edit
GEN779 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) 12q21.2 Genetic association
N
2 1 Kuo PH , et al. 2015 Edit
GEN956 KRT26 keratin 26 17q21.2 Rare single gene variant
N
36 2 Krumm N , et al. 2015 Edit
GEN403 LAMA1 Laminin, alpha 1 18p11.31 Genetic association
N
5 5 Anney R , et al. 2012 Edit
GEN979 LAT linker for activation of T-cells 16p11.2 Functional
N
0 2 Loviglio MN , et al. 2017 Edit
GEN1013 LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component 15q21.2 Rare single gene variant
N
5 3 De Rubeis S , et al. 2014 Edit
GEN968 LILRB2 leukocyte immunoglobulin like receptor B2 19q13.42 Rare single gene variant
N
7 2 Krumm N , et al. 2015 Edit
GEN632 LIN7B lin-7 homolog B, crumbs cell polarity complex component 19q13.33 Multigenic CNV/rare single gene variant
N
2 1 Mizuno M , et al. 2014 Edit
GEN145 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 14q21.1 Genetic Association
N
6 6 Wang K , et al. 2009 Edit
GEN417 LRRC7 Leucine rich repeat containing 7 1p31.1 Functional
N
2 3 Carlisle HJ , et al. 2011 Edit
GEN147 LZTS2 leucine zipper, putative tumor suppressor 2 10q24.31 Genetic Association
N
2 4 Wang K , et al. 2009 Edit
GEN578 MAGEL2 MAGE-like 2 15q11.2 Syndromic
N
32 12 Schaaf CP , et al. 2013 Edit
GEN284 MAPK3 mitogen-activated protein kinase 3 16p11.2 Rare Single Gene variant
N
4 4 Schaaf CP , et al. 2011 Edit
GEN151 MARK1 microtubule affinity regulating kinase 1 1q41 Genetic association/Functional
N
12 10 Maussion G , et al. 2008 Edit
GEN152 MBD1 methyl-CpG binding domain protein 1 18q21.1 Rare Single Gene variant
N
12 7 Li H , et al. 2005 Edit
GEN153 MBD3 methyl-CpG binding domain protein 3 19p13.3 Rare Single Gene variant, Genetic Association
N
18 4 Cukier HN , et al. 2009 Edit
GEN437 MBD6 Methyl-CpG binding domain protein 6 12q13.3 Rare single gene variant
N
11 1 Cukier HN , et al. 2012 Edit
GEN846 MBOAT7 membrane bound O-acyltransferase domain containing 7 19q13.42 Rare single gene variant
N
Yes 7 2 Johansen A , et al. 2016 Edit
GEN551 MC4R Melanocortin 4 receptor 18q21.32 Functional
N
0 2 Xu P , et al. 2013 Edit
GEN156 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 14q21.3 Genetic Association
N
18 7 Bucan M , et al. 2009 Edit
GEN884 MED13 mediator complex subunit 13 17q23.2 Rare single gene variant
N
17 4 Iossifov I , et al. 2014 Edit
GEN649 MED13L Mediator complex subunit 13-like 12q24.21 Rare single gene variant
N
74 22 Iossifov I , et al. 2012 Edit
GEN930 MEGF11 multiple EGF like domains 11 15q22.31 Rare single gene variant
N
3 4 Sanders SJ , et al. 2012 Edit
GEN765 MFRP Membrane frizzled-related protein 11q23.3 Rare single gene variant
N
7 5 Sanders SJ , et al. 2015 Edit
GEN660 MIB1 Mindbomb E3 ubiquitin protein ligase 1 18q11.2 Rare single gene variant
N
22 5 De Rubeis S , et al. 2014 Edit
GEN161 MKL2 MKL/myocardin-like 2 16p13.12 Genetic Association
N
5 10 Holt R , et al. 2010 Edit
GEN780 MNT MAX network transcriptional repressor 17p13.3 Genetic association
N
2 1 Kuo PH , et al. 2015 Edit
GEN746 MOCOS Molybdenum cofactor sulfurase 18q12.2 Rare single gene variant
N
1 2 Fron F , et al. 2015 Edit
GEN921 MSANTD2 Myb/SANT DNA binding domain containing 2 11q24.2 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN162 MTF1 metal-regulatory transcription factor 1 1p34.3 Genetic Association
N
2 4 Serajee FJ , et al. 2004 Edit
GEN163 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1p36.22 Genetic Association
N
12 15 James SJ , et al. 2006 Edit
GEN785 MTOR Mechanistic target of rapamycin (serine/threonine kinase) 1p36.22 Rare single gene variant
N
27 14 Mroske C , et al. 2015 Edit
GEN529 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1q43 Functional
N
4 5 Muratore CR , et al. 2013 Edit
GEN502 MYH4 Myosin, heavy chain 4, skeletal muscle 17p13.1 Rare single gene variant
N
4 3 Prasad A , et al. 2013 Edit
GEN164 MYO16 myosin XVI 13q33.3 Genetic Association
N
15 7 Wang K , et al. 2009 Edit
GEN165 MYO1A myosin IA 12q13.3 Rare Single Gene variant
N
12 7 O'Roak BJ , et al. 2011 Edit
GEN1001 MYO1E myosin IE 15q22.2 Rare single gene variant
N
3 2 Iossifov I , et al. 2014 Edit
GEN892 MYO5A myosin VA 15q21.2 Rare single gene variant
N
5 4 De Rubeis S , et al. 2014 Edit
GEN932 MYO5C myosin VC 15q21.2 Rare single gene variant
N
3 2 Iossifov I , et al. 2014 Edit
GEN661 MYO9B Myosin IXB 19p13.11 Rare single gene variant
N
27 2 De Rubeis S , et al. 2014 Edit
GEN693 MYOZ1 Myozenin 1 10q22.2 Rare single gene variant
N
1 1 Li J , et al. 2015 Edit
GEN868 NACC1 nucleus accumbens associated 1 19p13.13 Rare single gene variant
N
9 3 Schoch K , et al. 2017 Edit
GEN814 NAV2 neuron navigator 2 11p15.1 Rare single gene variant
N
14 8 Sanders SJ , et al. 2012 Edit
GEN166 NBEA neurobeachin 13q13.3 Rare single gene variant
N
4 8 Castermans D , et al. 2003 Edit
GEN350 NCKAP5L NCK-associated protein 5-like 12q13.12 Rare single gene variant
N
Yes 6 2 Chahrour MH , et al. 2012 Edit
GEN855 NCOR1 nuclear receptor corepressor 1 17p12-p11.2 Rare single gene variant
N
3 3 Iossifov I , et al. 2012 Edit
GEN440 NELL1 neural EGFL like 1 11p15.1 Genetic association
N
3 2 Connolly JJ , et al. 2012 Edit
GEN782 NEO1 Neogenin 1 15q24.1 Multigenic CNV, rare single gene variant
N
Yes 4 1 Siu WK , et al. 2015 Edit
GEN169 NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) 17q11.2 Rare Single Gene variant, Genetic Association
N
12 23 Marui T , et al. 2004 Edit
GEN290 NFIA nuclear factor I/A 1p31.3 Rare Single Gene variant
N
11 8 Mikhail FM , et al. 2011 Edit
GEN805 NFIX nuclear factor I/X (CCAAT-binding transcription factor) 19p13.13 Syndromic
N
13 6 Malan V , et al. 2010 Edit
GEN318 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 15q11.2 Rare single gene variant
N
4 5 Leblond CS , et al. 2012 Edit
GEN319 NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 15q11.2 Multigenic CNV
N
2 2 Leblond CS , et al. 2012 Edit
GEN627 NLGN2 Neuroligin 2 17p13.1 Rare single gene variant
N
5 8 Whr M , et al. 2012 Edit
GEN694 NOS1 Nitric oxide synthase 1 (neuronal) 12q24.22 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN174 NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 1q23.3 Rare single Gene variant
N
2 6 Delorme R , et al. 2010 Edit
GEN175 NOS2 nitric oxide synthase 2 17q11.2 Genetic Association
N
5 7 Kim HW , et al. 2008 Edit
GEN1019 NOTCH2NL notch 2 N-terminal like 1q21.1 Functional/Multigenic CNV
N
0 1 Fiddes IT , et al. 2018 Edit
GEN898 NR1D1 nuclear receptor subfamily 1 group D member 1 17q21.1 Rare single gene variant
N
5 3 Yang Z , et al. 2015 Edit
GEN1009 NR1H2 nuclear receptor subfamily 1 group H member 2 19q13.33 Functional
N
0 1 Cai Y , et al. 2018 Edit
GEN271 NRXN2 neurexin 2 11q13.1 Rare Single Gene variant
N
18 9 Gauthier J , et al. 2011 Edit
GEN305 NRXN3 neurexin 3 14q24.3-q31.1 Rare Single Gene variant
N
23 16 Vaags AK , et al. 2012 Edit
GEN167 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component 15q13.1 Functional
N
1 3 Chibuk TK , et al. 2002 Edit
GEN180 NTNG1 netrin G1 1p13.3 Syndromic
N
5 8 Borg I , et al. 2005 Edit
GEN181 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1q23.1 Rare Single Gene variant
N
14 8 Chakrabarti B , et al. 2009 Edit
GEN182 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 15q25.3 Rare Single Gene variant, Genetic Association
N
9 13 Chakrabarti B , et al. 2009 Edit
GEN756 NUAK1 NUAK family, SNF1-like kinase, 1 12q23.3 Rare single gene variant
N
4 5 Iossifov I , et al. 2012 Edit
GEN812 NUP133 nucleoporin 133kDa 1q42.13 Rare single gene variant
N
3 4 Iossifov I , et al. 2012 Edit
GEN183 ODF3L2 outer dense fiber of sperm tails 3-like 2 19p13.3 Rare Single Gene variant
N
11 1 Bucan M , et al. 2009 Edit
GEN186 OR1C1 olfactory receptor, family 1, subfamily C, member 1 1q44 Rare Single Gene variant
N
4 2 Bucan M , et al. 2009 Edit
GEN776 OR2M4 Olfactory receptor, family 2, subfamily M, member 4 1q44 Genetic association
N
4 1 Kuo PH , et al. 2015 Edit
GEN800 OR2T10 olfactory receptor family 2 subfamily T member 10 1q44 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN767 OR52M1 Olfactory receptor, family 52, subfamily M, member 1 11p15.4 Rare single gene variant
N
1 2 Sanders SJ , et al. 2015 Edit
GEN1005 OTUD7A OTU deubiquitinase 7A 15q13.3 Multigenic CNV
N
1 3 Uddin M , et al. 2018 Edit
GEN629 P2RX4 Purinergic receptor P2X, ligand-gated ion channel, 4 12q24.31 Functional
N
0 1 Wyatt LR , et al. 2013 Edit
GEN768 P2RX5 Purinergic receptor P2X, ligand gated ion channel, 5 17p13.2 Rare single gene variant
N
1 2 Sanders SJ , et al. 2015 Edit
GEN803 PACS1 phosphofurin acidic cluster sorting protein 1 11q13.1-q13.2 Syndromic
N
33 6 Schuurs-Hoeijmakers JH , et al. 2016 Edit
GEN1012 PACS2 phosphofurin acidic cluster sorting protein 2 14q32.33 Rare single gene variant
N
15 2 Olson HE , et al. 2018 Edit
GEN630 PAFAH1B1 Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 17p13.3 Functional
N
0 2 Sudarov A , et al. 2013 Edit
GEN527 PAH Phenylalanine hydroxylase 12q23.2 Rare single gene variant
N
Yes 3 2 Yu TW , et al. 2013 Edit
GEN580 PATJ PATJ, crumbs cell polarity complex component 1p31.3 Rare single gene variant
N
4 2 Kenny EM , et al. 2013 Edit
GEN743 PAX6 Paired box 6 11p13 Multigenic CNV
N
3 6 Umeda T , et al. 2011 Edit
GEN857 PCCA propionyl-CoA carboxylase alpha subunit 13q32.3 Syndromic
N
4 9 Al-Owain M , et al. 2013 Edit
GEN399 PCDH15 protocadherin related 15 10q21.1 Genetic association
N
29 4 Anney R , et al. 2012 Edit
GEN324 PCDH8 protocadherin 8 13q14.3 Rare Single Gene variant
N
1 1 Leblond CS , et al. 2012 Edit
GEN191 PCDH9 protocadherin 9 13q21.32 Rare Single Gene variant
N
10 7 Marshall CR , et al. 2008 Edit
GEN311 PDE4A phosphodiesterase 4A, cAMP-specific 19p13.2 Functional
N
1 2 Braun NN , et al. 2007 Edit
GEN312 PDE4B phosphodiesterase 4B, cAMP-specific 1p31.3 Functional
N
2 5 Braun NN , et al. 2007 Edit
GEN193 PER1 period homolog 1 (Drosophila) 17p13.1 Genetic Association
N
8 6 Nicholas B , et al. 2007 Edit
GEN859 PGLYRP2 peptidoglycan recognition protein 2 19p13.12 Rare single gene variant
N
2 3 Arentsen T , et al. 2016 Edit
GEN909 PHB prohibitin 17q21.33 Genetic association
N
1 1 Cantor RM , et al. 2017 Edit
GEN738 PHRF1 PHD and ring finger domains 1 11p15.5 Rare single gene variant
N
3 4 De Rubeis S , et al. 2014 Edit
GEN552 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 19p13.11 Syndromic
N
6 4 Rivire JB , et al. 2012 Edit
GEN371 PLAUR Plasminogen activator, urokinase receptor 19q13.31 Genetic association
N
1 1 Campbell DB , et al. 2009 Edit
GEN972 PLPPR4 phospholipid phosphatase related 4 1p21.3-p21.2 Functional
N
0 3 Vogt J , et al. 2015 Edit
GEN368 POGZ Pogo transposable element with ZNF domain 1q21.3 Rare single gene variant
N
74 22 Neale BM , et al. 2012 Edit
GEN922 POLA2 DNA polymerase alpha 2, accessory subunit 11q13.1 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN528 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1p34.1 Syndromic
N
Yes 6 3 Yu TW , et al. 2013 Edit
GEN512 PPFIA1 Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 11q13.3 Rare single gene variant
N
2 2 Schluth-Bolard C , et al. 2013 Edit
GEN901 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D 17q23.2 Rare single gene variant
N
23 5 Sanders SJ , et al. 2012 Edit
GEN359 PPP1R1B Protein phosphatase 1, regulatory (inhibitor) subunit 1B 17q12 Genetic association
N
3 1 Hettinger JA , et al. 2012 Edit
GEN810 PPP2R1B protein phosphatase 2 regulatory subunit A, beta 11q23.1 Rare single gene variant
N
3 4 Sanders SJ , et al. 2012 Edit
GEN588 PRICKLE1 Prickle homolog 1 (Drosophila) 12q12 Syndromic
N
8 4 Paemka L , et al. 2013 Edit
GEN201 PRKCB protein kinase C beta 16p12.2-p12.1 Genetic Association
N
5 6 Philippi A , et al. 2005 Edit
GEN457 PRKD1 Protein kinase D1 14q12 Syndromic
N
6 4 Ellaway CJ , et al. 2012 Edit
GEN953 PRPF39 pre-mRNA processing factor 39 14q21.2 Rare single gene variant
N
4 3 De Rubeis S , et al. 2014 Edit
GEN1008 PRR12 proline rich 12 19q13.33 Syndromic
N
4 2 Leduc MS , et al. 2018 Edit
GEN458 PRSS38 Protease, serine, 38 1q42.13 Genetic association
N
4 3 Connolly JJ , et al. 2012 Edit
GEN867 PSMD12 proteasome 26S subunit, non-ATPase 12 17q24.2 Syndromic
N
11 2 Kry S , et al. 2017 Edit
GEN848 PTBP2 polypyrimidine tract binding protein 2 1p21.3 Rare single gene variant
N
Yes 3 3 Doan RN , et al. 2016 Edit
GEN204 PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1) 10q23.31 Syndromic
N
74 49 Goffin A , et al. 2001 Edit
GEN540 PTGER3 prostaglandin E receptor 3 1p31.1 Rare single gene variant
N
Yes 1 1 Nava C , et al. 2013 Edit
GEN205 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase) 1q31.1 Genetic Association
N
1 5 Yoo HJ , et al. 2008 Edit
GEN277 PTPN11 protein tyrosine phosphatase, non-receptor type 11 12q24.13 Syndromic
N
27 12 Tartaglia M , et al. 2001 Edit
GEN605 PTPRB protein tyrosine phosphatase, receptor type B 12q15 Genetic association
N
2 3 Wittkowski KM , et al. 2014 Edit
GEN206 PTPRC protein tyrosine phosphatase, receptor type, C 1q31.3-q32.1 Genetic Association
N
6 8 Pinto D , et al. 2010 Edit
GEN724 PYHIN1 Pyrin and HIN domain family, member 1 1q23.1 Rare single gene variant
N
4 4 De Rubeis S , et al. 2014 Edit
GEN208 RAI1 retinoic acid induced 1 17p11.2 Syndromic
N
13 20 Nakamine A , et al. 2007 Edit
GEN560 RASD1 ras related dexamethasone induced 1 17p11.2 Functional
N
0 1 Lacaria M , et al. 2013 Edit
GEN394 RASSF5 Ras association domain family member 5 1q32.1 Genetic association
N
2 2 Anney R , et al. 2012 Edit
GEN001 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 16p13.3 Genetic Association
N
71 32 Sebat J , et al. 2007 Edit
GEN519 RBM8A RNA binding motif protein 8A 1q21.1 Multigenic CNV
N
2 5 Nguyen LS , et al. 2013 Edit
GEN212 REEP3 receptor accessory protein 3 10q21.3 Rare single gene variant
N
1 3 Castermans D , et al. 2007 Edit
GEN491 RERE Arginine-glutamic acid dipeptide (RE) repeats 1p36.23 Rare single gene variant
N
25 6 Prasad A , et al. 2013 Edit
GEN214 RFWD2 ring finger and WD repeat domain 2 1q25.1-q25.2 Genetic Association
N
2 9 Glessner JT , et al. 2009 Edit
GEN215 RGS7 regulator of G-protein signaling 7 1q43 Rare Single Gene variant
N
Yes 6 6 Pinto D , et al. 2010 Edit
GEN217 RIMS3 regulating synaptic membrane exocytosis 3 1p34.2 Rare single gene variant
N
7 4 Kumar RA , et al. 2009 Edit
GEN815 RIT2 Ras-like without CAAX 2 18q12.3 Genetic association
N
6 3 Liu X , et al. 2015 Edit
GEN774 RNF135 Ring finger protein 135 17q11.2 Syndromic
N
7 2 Tastet J , et al. 2015 Edit
GEN521 RNPS1 RNA binding protein with serine rich domain 1 16p13.3 Multigenic CNV
N
1 1 Nguyen LS , et al. 2013 Edit
GEN219 RORA RAR-related orphan receptor A 15q22.2 Functional
N
20 18 Nguyen A , et al. 2010 Edit
GEN936 RP11-1407O15.2 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN375 RPP25 ribonuclease P and MRP subunit p25 15q24.2 Functional
N
0 1 Huang HS , et al. 2010 Edit
GEN503 SAE1 SUMO1 activating enzyme subunit 1 19q13.32 Rare single gene variant
N
6 3 Prasad A , et al. 2013 Edit
GEN739 SCN4A Sodium channel, voltage gated, type IV alpha subunit 17q23.3 Rare single gene variant
N
3 3 Iossifov I , et al. 2014 Edit
GEN327 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12q13.13 Rare single gene variant
N
71 26 Veeramah KR , et al. 2012 Edit
GEN954 SCP2 sterol carrier protein 2 1p32.3 Rare single gene variant
N
4 2 Sanders SJ , et al. 2012 Edit
GEN640 SETBP1 SET binding protein 1 18q12.3 Rare single gene variant
N
31 10 O'Roak BJ , et al. 2012 Edit
GEN994 SETD1B SET domain containing 1B 12q24.31 Syndromic
N
4 6 Iossifov I , et al. 2014 Edit
GEN460 SETDB1 SET domain, bifurcated 1 1q21.3 Rare single gene variant
N
11 3 Cukier HN , et al. 2012 Edit
GEN461 SETDB2 SET domain, bifurcated 2 13q14.2 Syndromic
N
10 2 Cukier HN , et al. 2012 Edit
GEN227 SEZ6L2 SEZ6L2 seizure related 6 homolog (mouse)-like 2 16p11.2 Rare Single Gene variant
N
6 6 Kumar RA , et al. 2009 Edit
GEN601 SGSH N-sulfoglucosamine sulfohydrolase 17q25.3 Syndromic
N
1 4 Rumsey RK , et al. 2014 Edit
GEN340 SHANK1 SH3 and multiple ankyrin repeat domains 1 19q13.33 Rare Single Gene variant
N
35 5 Sato D , et al. 2012 Edit
GEN229 SHANK2 SH3 and multiple ankyrin repeat domains 2 11q13.3-q13.4 Rare Single Gene variant
N
72 24 Berkel S , et al. 2010 Edit
GEN712 SIK1 Salt-inducible kinase 1 21q22.3 Rare single gene variant
N
7 5 Hansen J , et al. 2015 Edit
GEN837 SIN3A SIN3 transcription regulator family member A 15q24.2 Rare single gene variant
N
14 6 Witteveen JS , et al. 2016 Edit
GEN331 SLC16A3 solute carrier family 16, member 3 (monocarboxylic acid transporter 4) 17q25.3 Rare Single Gene variant
N
4 2 Pinto D , et al. 2010 Edit
GEN462 SLC16A7 Solute carrier family 16, member 7 (monocarboxylic acid transporter 2) 12q14.1 Rare single gene variant
N
1 1 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN706 SLC1A2 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 11p13 Multigenic CNV
N
23 6 Aida T , et al. 2015 Edit
GEN393 SLC22A15 Solute carrier family 22, member 15 1p13.1 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN809 SLC22A9 solute carrier family 22 member 9 11q12.3 Rare single gene variant
N
2 3 Sanders SJ , et al. 2012 Edit
GEN464 SLC25A24 Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 1p13.3 Functional
N
1 2 Anitha A , et al. 2012 Edit
GEN952 SLC25A39 solute carrier family 25 member 39 17q21.31 Rare single gene variant
N
12 3 Iossifov I , et al. 2012 Edit
GEN575 SLC35A3 Solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 1p21.2 Rare single gene variant
N
Yes 3 2 Edvardson S , et al. 2013 Edit
GEN908 SLC35B1 solute carrier family 35 member B1 17q21.33 Genetic association
N
2 1 Cantor RM , et al. 2017 Edit
GEN270 SLC38A10 solute carrier family 38, member 10 17q25.3 Rare Single Gene variant
N
1 1 Celestino-Soper PB , et al. 2011 Edit
GEN402 SLC39A11 solute carrier family 39 member 11 17q24.3-q25.1 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN905 SLC45A1 solute carrier family 45 member 1 1p36.23 Rare single gene variant
N
Yes 3 2 Srour M , et al. 2017 Edit
GEN235 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 17q11.2 Genetic Association
N
49 25 Cook EH Jr , et al. 1997 Edit
GEN860 SLC7A5 solute carrier family 7 member 5 16q24.2 Functional/syndromic
N
Yes 2 1 Tafrlungeanu DC , et al. 2016 Edit
GEN957 SLC7A7 solute carrier family 7 member 7 14q11.2 Rare single gene variant
N
3 2 O'Roak BJ , et al. 2012 Edit
GEN704 SLCO1B3 Solute carrier organic anion transporter family, member 1B3 12p12.2 Rare single gene variant
N
13 2 De Rubeis S , et al. 2014 Edit
GEN558 SLITRK5 SLIT and NTRK-like family, member 5 13q31.2 Functional
N
9 8 Shmelkov SV , et al. 2010 Edit
GEN916 SMAD4 SMAD family member 4 18q21.2 Rare single gene variant
N
8 3 Iossifov I , et al. 2014 Edit
GEN923 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19p13.2 Syndromic
N
10 6 De Rubeis S , et al. 2014 Edit
GEN732 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 12q13.2 Functional
N
7 9 Neale BM , et al. 2012 Edit
GEN877 SMC3 structural maintenance of chromosomes 3 10q25.2 Syndromic
N
6 6 Iossifov I , et al. 2014 Edit
GEN520 SMG6 SMG6, nonsense mediated mRNA decay factor 17p13.3 Multigenic CNV
N
3 2 Nguyen LS , et al. 2013 Edit
GEN343 SNRPN small nuclear ribonucleoprotein polypeptide N 15q11.2 Rare Single Gene variant
N
6 5 Talkowski ME , et al. 2012 Edit
GEN466 SNX19 Sorting nexin 19 11q24.3-q25 Rare single gene variant
N
3 3 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN604 SOD1 superoxide dismutase 1 21q22.11 Functional
N
2 2 Kova J , et al. 2013 Edit
GEN366 SOX5 SRY-box 5 12p12.1 Rare single gene variant
N
23 13 Rosenfeld JA , et al. 2010 Edit
GEN871 SRCAP Snf2 related CREBBP activator protein 16p11.2 Rare single gene variant
N
7 5 Iossifov I , et al. 2014 Edit
GEN671 SRRM4 Serine/arginine repetitive matrix 4 12q24.23 Functional
N
1 5 Irimia M , et al. 2014 Edit
GEN886 SRSF11 serine and arginine rich splicing factor 11 1p31.1 Rare single gene variant
N
3 3 De Rubeis S , et al. 2014 Edit
GEN977 SSRP1 structure specific recognition protein 1 11q12.1 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN420 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 15q26.1 Genetic association
N
11 8 Anney R , et al. 2010 Edit
GEN778 STYK1 Serine/threonine/tyrosine kinase 1 12p13.2 Genetic association
N
2 1 Kuo PH , et al. 2015 Edit
GEN929 SYNJ1 synaptojanin 1 21q22.11 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN246 SYT17 synaptotagmin XVII 16p12.3 Genetic Association
N
2 2 Wang K , et al. 2009 Edit
GEN341 SYT3 synaptotagmin III 19q13.33 Rare Single Gene variant
N
1 1 Sato D , et al. 2012 Edit
GEN392 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C 16q24.1 Genetic association
N
2 2 Anney R , et al. 2012 Edit
GEN878 TANC2 etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 17q23.2-q23.3 Rare single gene variant
N
9 6 Iossifov I , et al. 2014 Edit
GEN1006 TAOK2 TAO kinase 2 16p11.2 Rare single gene variant
N
25 5 C Yuen RK , et al. 2017 Edit
GEN592 TCF4 Transcription factor 4 18q21.2 Syndromic
N
39 38 Van Balkom ID , et al. 2012 Edit
GEN652 TCF7L2 Transcription factor 7-like 2 (T-cell specific, HMG-box) 10q25.2-q25.3 Rare single gene variant
N
3 2 Iossifov I , et al. 2014 Edit
GEN933 TECTA tectorin alpha 11q23.3 Rare single gene variant
N
5 5 Sanders SJ , et al. 2012 Edit
GEN027 TERB2 telomere repeat binding bouquet formation protein 2 15q21.1 Rare Single Gene variant
N
1 1 Pinto D , et al. 2010 Edit
GEN757 TERF2 Telomeric repeat binding factor 2 16q22.1 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN251 TH tyrosine hydroxylase 11p15.5 Genetic Association
N
4 8 Comings DE , et al. 1995 Edit
GEN696 THAP8 THAP domain containing 8 19q13.12 Rare single gene variant
N
1 1 Li J , et al. 2015 Edit
GEN638 THBS1 Thrombospondin 1 15q14 Genetic association/rare single gene variant
N
7 2 Lu L , et al. 2014 Edit
GEN421 THRA thyroid hormone receptor alpha 17q21.1 Functional
N
1 3 Pilhatsch M , et al. 2010 Edit
GEN252 TLK2 tousled-like kinase 2 17q23.2 Rare Single Gene variant
N
42 10 O'Roak BJ , et al. 2011 Edit
GEN467 TMEM231 Transmembrane protein 231 16q23.1 Syndromic
N
5 2 Srour M , et al. 2012 Edit
GEN697 TNN Tenascin N 1q25.1 Rare single gene variant
N
3 3 Li J , et al. 2015 Edit
GEN468 TOMM20 Translocase of outer mitochondrial membrane 20 homolog (yeast) 1q42.3 Functional
N
0 1 Anitha A , et al. 2012 Edit
GEN254 TPH2 tryptophan hydroxylase 2 12q21.1 Genetic Association
N
10 12 Coon H , et al. 2005 Edit
GEN914 TRAPPC6B trafficking protein particle complex 6B 14q21.1 Rare single gene variant
N
4 2 Marin-Valencia I , et al. 2017 Edit
GEN584 TRIM33 Tripartite motif containing 33 1p13.2 Genetic association/Functional
N
4 1 Xia K , et al. 2013 Edit
GEN666 TRPC6 Transient receptor potential cation channel, subfamily C, member 6 11q22.1 Rare single gene variant/functional
N
11 2 Griesi-Oliveira K , et al. 2014 Edit
GEN513 TRPM1 transient receptor potential cation channel subfamily M member 1 15q13.3 Rare single gene variant
N
7 3 Girirajan S , et al. 2013 Edit
GEN256 TSC2 tuberous sclerosis 2 16p13.3 Genetic Association
N
74 26 Smalley SL 1998 Edit
GEN850 TSHZ3 teashirt zinc finger homeobox 3 19 Rare single gene variant
N
7 2 Caubit X , et al. 2016 Edit
GEN026 TSPOAP1 TSPO associated protein 1 17q22 Rare Single Gene variant
N
8 5 Bucan M , et al. 2009 Edit
GEN907 TTC25 tetratricopeptide repeat domain 25 17q21.2 Genetic association
N
9 1 Vojinovic D , et al. 2017 Edit
GEN321 TUBGCP5 tubulin, gamma complex associated protein 5 15q11.2 Multigenic CNV
N
4 4 Leblond CS , et al. 2012 Edit
GEN422 TYR tyrosinase 11q14.3 Functional
N
3 3 Hamilton SM , et al. 2010 Edit
GEN262 UBE3A ubiquitin protein ligase E3A 15q11.2 Genetic Association
N
19 26 Nurmi EL , et al. 2001 Edit
GEN351 UBE3B ubiquitin protein ligase E3B 12q24.11 Rare single gene variant
N
Yes 15 6 Chahrour MH , et al. 2012 Edit
GEN300 UBL7 ubiquitin-like 7 (bone marrow stromal cell-derived) 15q24.1 Rare Single Gene variant
N
1 1 Salyakina D , et al. 2011 Edit
GEN275 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 14q32.12 Rare Single Gene variant
N
Yes 1 1 Najmabadi H , et al. 2011 Edit
GEN845 UCN3 urocortin 3 10p15.1 Functional
N
0 1 Shemesh Y , et al. 2016 Edit
GEN869 UNC13A unc-13 homolog A 19p13.11 Rare single gene variant
N
5 5 Lipstein N , et al. 2017 Edit
GEN976 UNC79 unc-79 homolog, NALCN channel complex subunit 14q32.12 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN518 UPF2 UPF2, regulator of nonsense mediated mRNA decay 10p14 Multigenic CNV
N
3 4 Nguyen LS , et al. 2013 Edit
GEN935 USH2A usherin 1q41 Rare single gene variant
N
3 3 Neale BM , et al. 2012 Edit
GEN903 USP15 ubiquitin specific peptidase 15 12q14.1 Rare single gene variant
N
3 3 O'Roak BJ , et al. 2012 Edit
GEN758 USP7 Ubiquitin specific peptidase 7 (herpes virus-associated) 16p13.2 Rare single gene variant
N
13 6 Hao YH , et al. 2015 Edit
GEN263 VASH1 vasohibin 1 14q24.3 Genetic Association
N
2 4 Wang K , et al. 2009 Edit
GEN978 VRK3 vaccinia related kinase 3 19q13.33 Functional
N
0 1 Kang MS , et al. 2017 Edit
GEN654 WAC WW domain containing adaptor with coiled-coil 10p12.1 Syndromic
N
27 15 Iossifov I , et al. 2014 Edit
GEN918 WDR26 WD repeat domain 26 1q42.11-q42.12 Rare single gene variant
N
17 3 Skraban CM , et al. 2017 Edit
GEN699 WDR93 WD repeat domain 93 15q26.1 Rare single gene variant
N
Yes 1 1 Alazami AM , et al. 2015 Edit
GEN572 WNT1 Wingless-type MMTV integration site family, member 1 12q13.12 Genetic association
N
2 3 Martin PM , et al. 2013 Edit
GEN851 WWOX WW domain containing oxidoreductase 16 Rare single gene variant
N
24 8 Leppa VM , et al. 2016 Edit
GEN501 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 17p13.3 Multigenic CNV
N
3 5 Prasad A , et al. 2013 Edit
GEN910 YY1 YY1transcription factor 14q32.2 Functional
N
23 3 Gabriele M , et al. 2017 Edit
GEN401 ZBTB16 Zinc finger and BTB domain containing 16 11q23.2 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN875 ZC3H4 zinc finger CCCH-type containing 4 19q13.32 Rare single gene variant
N
4 3 Iossifov I , et al. 2014 Edit
GEN641 ZMYND11 Zinc finger, MYND-type containing 11 10p15.3 Rare single gene variant
N
13 10 Iossifov I , et al. 2012 Edit
GEN352 ZNF18 zinc finger protein 18 17p12 Rare single gene variant
N
Yes 3 1 Chahrour MH , et al. 2012 Edit
GEN484 ZNF407 Zinc finger protein 407 18q22.3 Rare Single Gene variant
N
14 5 Ren CM , et al. 2012 Edit
GEN965 ZNF548 zinc finger protein 548 19q13.43 Rare single gene variant
N
9 2 Krumm N , et al. 2015 Edit
GEN773 ZNF559 Zinc finger protein 559 19p13.2 Rare single gene variant
N
18 3 Sanders SJ , et al. 2015 Edit
GEN944 ZNF626 zinc finger protein 626 19p12 Rare single gene variant
N
26 2 Krumm N , et al. 2015 Edit
GEN705 ZNF774 Zinc finger protein 774 15q26.1 Rare single gene variant
N
13 2 De Rubeis S , et al. 2014 Edit
GEN486 ZNF8 Zinc finger protein 8 19q13.43 Rare single gene variant
N
Yes 1 1 Morrow EM , et al. 2008 Edit
GEN293 ZSWIM5 zinc finger, SWIM-type containing 5 1p34.1 Rare Single Gene variant
N
1 1 Salyakina D , et al. 2011 Edit
GEN798 ZWILCH zwilchkinetochore protein 15q22.31 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
10
Deletion-Duplication
 15
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 1
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 3
 
 
10
Deletion-Duplication
 14
 
 
10
Deletion-Duplication
 1
 
 
10
Deletion
 1
 
 
10
Deletion
 3
 
 
10
Deletion-Duplication
 21
 
 
10
Duplication
 2
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 3
 
 
10
Deletion
 3
 
 
10
Duplication
 5
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 5
 
 
10
Duplication
 3
 
 
10
Deletion-Duplication
 18
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 5
 
 
10
Deletion
 2
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 33
 
 
10
Duplication
 1
 
 
10
Deletion
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 11
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 13
 
 
10
Deletion-Duplication
 4
 
 
10
Deletion-Duplication
 24
 
 
10
Deletion
 2
 
 
10
Deletion
 10
 
 
10
Deletion
 1
 
 
10
Deletion
 7
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 3
 
 
10
Duplication
 1
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 6
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 13
 
 
10
Deletion
 3
 
 
10
Deletion
 2
 
 
10
Deletion
 1
 
 
10
Deletion
 4
 
 
10
Deletion-Duplication
 9
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion-Duplication
 36
 
 
11
Deletion-Duplication
 15
 
 
11
Duplication
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 24
 
 
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-Duplication
 19
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Duplication
 4
 
 
11
Deletion-Duplication
 17
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 32
 
 
11
Deletion-Duplication
 19
 
 
11
Duplication
 1
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 11
 
 
11
Duplication
 5
 
 
11
Deletion-Duplication
 6
 
 
11
Deletion-Duplication
 10
 
 
11
Deletion
 1
 
 
11
Deletion
 11
 
 
11
Deletion-Duplication
 1
 
 
11
Deletion-Duplication
 18
 
 
11
Deletion
 2
 
 
11
Duplication
 1
 
 
11
Deletion
 7
 
 
11
Duplication
 4
 
 
11
Deletion-Duplication
 15
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 10
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 9
 
 
11
Deletion-Duplication
 1
 
 
11
Deletion-Duplication
 16
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 25
 
 
11
Deletion-Duplication
 4
 
 
11
Deletion
 3
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 14
 
 
11
Duplication
 1
 
 
11
Deletion
 4
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 4
 
 
11
Deletion-Duplication
 13
 
 
11
Deletion
 2
 
 
11
Deletion
 6
 
 
11
Deletion-Duplication
 11
 
 
11
Deletion
 7
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 13
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 8
 
 
12
Deletion
 1
 
 
12
Deletion
 8
 
 
12
Deletion-Duplication
 15
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion
 10
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 14
 
 
12
Deletion
 1
 
 
12
Deletion
 3
 
 
12
Deletion-Duplication
 26
 
 
12
Deletion-Duplication
 30
 
 
12
Duplication
 3
 
 
12
Deletion
 1
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Duplication
 2
 
 
12
Deletion
 5
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 20
 
 
12
Deletion
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 6
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 6
 
 
12
Duplication
 3
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 2
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 13
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Duplication
 2
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 6
 
 
12
Deletion-Duplication
 7
 
 
12
Duplication
 2
 
 
12
Duplication
 1
 
 
12
Duplication
 3
 
 
12
Duplication
 5
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 24
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 2
 
 
12
Duplication
 4
 
 
12
Deletion-Duplication
 28
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
N/A
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 2
 
 
13
Deletion-Duplication
 6
 
 
13
Deletion
 2
 
 
13
Deletion
 2
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 5
 
 
13
Deletion-Duplication
 5
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 10
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 12
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 17
 
 
13
Deletion
 1
 
 
13
N/A
 1
 
 
13
Deletion-Duplication
 10
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 12
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 1
 
 
13
Duplication
 6
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 14
 
 
13
Deletion-Duplication
 2
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 9
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 4
 
 
13
Deletion
 3
 
 
13
Deletion-Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 1
 
 
13
Deletion
 3
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 1
 
 
13
Deletion-Duplication
 3
 
 
13
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 41
 
 
14
Duplication
 3
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 19
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 11
 
 
14
Deletion-Duplication
 11
 
 
14
Deletion-Duplication
 6
 
 
14
Deletion-Duplication
 13
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 16
 
 
14
Deletion
 4
 
 
14
Deletion-Duplication
 18
 
 
14
Duplication
 2
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 18
 
 
14
Deletion
 6
 
 
14
Deletion
 14
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 17
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 11
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 4
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 28
 
 
15
Duplication
 9
  construct
 
15
Duplication
 1
 
 
15
Duplication
 2
 
 
15
Duplication
 7
 
 
15
Duplication
 2
 
 
15
Duplication
 1
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 82
 
 
15
Duplication
 6
 
 
15
Duplication
 50
  construct
 
15
Duplication
 3
 
 
15
Duplication
 10
 
 
15
Duplication
 3
 
 
15
Deletion-Duplication
 9
 
 
15
Duplication
 3
 
 
15
Duplication
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 11
 
 
15
Deletion-Duplication
 10
 
 
15
Deletion
 16
 
 
15
Deletion-Duplication
 15
 
 
15
Deletion-Duplication
 36
 
 
15
Deletion-Duplication
 63
  construct
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 22
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 9
 
 
15
Deletion-Duplication
 10
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 8
 
 
15
Deletion
 2
 
 
15
Deletion-Duplication
 8
 
 
15
Deletion
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 17
 
 
15
Deletion
 5
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 8
 
 
15
Deletion-Duplication
 10
 
 
15
Deletion-Duplication
 12
 
 
15
Deletion
 9
 
 
15
Deletion
 3
 
 
15
Deletion
 1
 
 
15
Duplication
 2
 
 
15
Deletion-Duplication
 12
 
 
15
Deletion
 5
 
 
15
Deletion
 9
 
 
15
Duplication
 1
 
 
15
Duplication
 2
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 7
 
 
15
Deletion
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 15
 
 
15
Deletion-Duplication
 23
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 4
 
 
15
Deletion-Duplication
 32
 
 
16
Deletion-Duplication
 99
  construct
 
16
Deletion-Duplication
 19
 
 
16
Duplication
 3
 
 
16
Deletion
 1
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 23
 
 
16
Duplication
 9
 
 
16
Deletion-Duplication
 16
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 33
 
 
16
Deletion
 3
 
 
16
Deletion-Duplication
 43
 
 
16
Duplication
 2
 
 
16
Deletion-Duplication
 2
 
 
16
Deletion
 5
 
 
16
Deletion-Duplication
 1
 
 
16
Deletion-Duplication
 10
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 15
 
 
16
Deletion
 3
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 21
 
 
16
Deletion
 2
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion
 4
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 34
 
 
16
Deletion
 3
 
 
16
Deletion
 1
 
 
16
Duplication
 2
 
 
16
Deletion-Duplication
 14
 
 
16
Deletion
 1
 
 
16
Deletion
 6
 
 
16
Duplication
 1
 
 
16
Deletion
 3
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 18
 
 
16
Deletion
 2
 
 
16
Deletion-Duplication
 2
 
 
16
Deletion-Duplication
 9
 
 
16
Deletion
 8
 
 
16
Deletion-Duplication
 22
 
 
17
Deletion-Duplication
 43
  construct
 
17
Deletion-Duplication
 31
 
 
17
Duplication
 6
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 26
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 20
 
 
17
Duplication
 7
 
 
17
Deletion-Duplication
 44
 
 
17
Duplication
 1
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 4
 
 
17
Duplication
 9
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 6
 
 
17
Duplication
 2
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 20
 
 
17
Deletion-Duplication
 51
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 38
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 18
 
 
17
Deletion
 1
 
 
17
Deletion
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 11
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Deletion
 12
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 6
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 22
 
 
17
Duplication
 1
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 5
 
 
17
Deletion-Duplication
 24
 
 
18
Deletion-Duplication
 11
 
 
18
Duplication
 1
 
 
18
Deletion
 2
 
 
18
Duplication
 8
 
 
18
Duplication
 5
 
 
18
Deletion
 2
 
 
18
Deletion
 2
 
 
18
Deletion-Duplication
 5
 
 
18
Duplication
 2
 
 
18
Duplication
 2
 
 
18
Duplication
 1
 
 
18
Duplication
 1
 
 
18
Duplication
 1
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 16
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 1
 
 
18
Duplication
 1
 
 
18
Deletion-Duplication
 17
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 14
 
 
18
N/A
 2
 
 
18
Deletion-Duplication
 12
 
 
18
Duplication
 2
 
 
18
Deletion-Duplication
 14
 
 
18
Deletion
 1
 
 
18
Duplication
 1
 
 
18
Deletion
 1
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 1
 
 
18
Deletion
 4
 
 
18
Deletion-Duplication
 4
 
 
18
Deletion-Duplication
 2
 
 
18
Deletion-Duplication
 4
 
 
18
Deletion
 1
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 15
 
 
18
Deletion-Duplication
 1
 
 
18
Deletion
 1
 
 
19
Deletion-Duplication
 24
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 15
 
 
19
Duplication
 1
 
 
19
Deletion
 3
 
 
19
Duplication
 1
 
 
19
Deletion
 4
 
 
19
Duplication
 1
 
 
19
Deletion
 2
 
 
19
Deletion
 1
 
 
19
Deletion-Duplication
 23
 
 
19
Duplication
 2
 
 
19
Deletion-Duplication
 5
 
 
19
Deletion-Duplication
 3
 
 
19
Deletion-Duplication
 27
 
 
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-Duplication
 17
 
 
19
Deletion
 4
 
 
19
Deletion
 2
 
 
19
Deletion-Duplication
 19
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 2
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 15
 
 
19
Duplication
 1
 
 
19
Duplication
 3
 
 
19
Deletion-Duplication
 19
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion-Duplication
 12
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 20
 
 
1
Duplication
 1
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 22
 
 
1
Deletion
 1
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 12
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Deletion
 6
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 4
 
 
1
Deletion-Duplication
 27
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 23
 
 
1
Duplication
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Duplication
 4
 
 
1
Deletion-Duplication
 5
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 11
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 15
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 14
 
 
1
Deletion-Duplication
 14
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 10
 
 
1
Duplication
 1
 
 
1
Deletion
 3
 
 
1
Deletion-Duplication
 13
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion
 6
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 15
 
 
1
Duplication
 1
 
 
1
Deletion
 2
 
 
1
Deletion-Duplication
 9
 
 
1
Deletion-Duplication
 14
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Duplication
 5
 
 
1
Deletion
 7
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 13
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion-Duplication
 13
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion-Duplication
 23
 
 
1
Duplication
 1
 
 
1
Deletion
 3
 
 
1
Deletion
 3
 
 
1
Deletion
 2
 
 
1
Deletion
 9
 
 
1
Duplication
 3
 
 
1
Deletion-Duplication
 48
 
 
1
Duplication
 16
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 15
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 19
 
 
1
Deletion
 3
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 9
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 11
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 10
 
 
1
Deletion
 2
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Deletion-Duplication
 12
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 18
 
 
1
Deletion
 3
 
 
1
Deletion-Duplication
 17
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 16
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 17
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 2
 
 
1
Deletion-Duplication
 14
 
 
1
Deletion
 3
 
 
1
Deletion
 2
 
 
1
Duplication
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 12
 
 
1
Deletion
 6
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 17
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 11
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 22
 
 
1
Duplication
 6
 
 
1
Deletion-Duplication
 46
 
 
21
Duplication
 2
 
 
21
Deletion
 2
 
 
21
Deletion
 1
 
 
21
Duplication
 5
 
 
21
Deletion
 1
 
 
21
Duplication
 1
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 16
 
 
21
Deletion-Duplication
 11
 
 
21
Deletion-Duplication
 1
 
 
21
Deletion
 1
 
 
21
Duplication
 2
 
 
21
Deletion
 1
 
 
21
Deletion-Duplication
 5
 
 
21
Deletion
 2
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 7
 
 
21
Deletion
 3
 
 
21
Deletion-Duplication
 30
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Ambra1
 autophagy and beclin 1 regulator 1
 Mus musculus
 11p11.2
 2
 1
 
 ankyrin repeat domain 11
 Mus musculus
 Unknown
 2
 3
 
  Apba2
 amyloid beta (A4) precursor protein-binding, family A, member 2
 Mus musculus
 Unknown
 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
 
  arnt2
 aryl-hydrocarbon receptor nuclear translocator 2
 Danio rerio
 
 1
 1
 
  ash1
 absent, small, or homeotic discs 1
 Drosophila melanogaster
 
 1
 2
 
  Ash1l
 ash1 (absent, small, or homeotic)-like
 Mus musculus
 
 3
 6
 
  Atp1a3
 Sodium potassium ATPase alpha 3 subunit
 Mus musculus
 Unknown
 1
 2
 
  Atrnl1
 Attractin like 1
 Mus musculus
 Unknown
 1
 3
 
  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
 
  Bdnf
 brain derived neurotrophic factor
 Mus musculus
 
 1
 1
 
 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
 15
 
 calcium voltage-gated channel subunit alpha1 C
 Rattus norvegicus
 Unknown
 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
 
  Cadm1
 cell adhesion molecule 1
 Mus musculus
 Unknown
 2
 4
 
 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
 
 1
 5
 
  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
 
 1
 2
 
  Chd5
 chromodomain helicase DNA binding protein 5
 Mus musculus
 
 1
 2
 
  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
 
 6
 16
 
  Cic
 capicua transcriptional repressor
 Mus musculus
 19q13.2
 1
 8
 
  Clstn3
 calsyntenin 3
 Mus musculus
 
 1
 1
 
 contactin associated protein-like 4
 Mus musculus
 
 1
 7
 
  Csnk1d
 casein kinase 1, delta
 Mus musculus
 
 1
 3
 
  Cyfip1
 Cytoplasmic FMR1 interacting protein 1
 Mus musculus
 
 1
 1
 
  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
 
  Deaf1
 Deformed epidermal autoregulatory factor-1
 Drosophila melanogaster
 
 1
 16
 
  Deaf1
 Deformed epidermal autoregulatory factor 1
 Mus musculus
 11p15.5
 3
 9
 
  Dhcr7
 7-dehydrocholesterol reductase
 Mus musculus
 
 3
 5
 
  Disc1
 Disrupted in schizophrenia 1
 Mus musculus
 Unknown
 7
 13
 
  Disc1
 Disrupted in schizophrenia 1
 Rattus norvegicus
 Unknown
 1
 2
 
  Dlg4
 discs, large homolog 4 (Drosophila)
 Mus musculus
 Unknown
 1
 1
 
  Dlgap1
 DLG associated protein 1
 Mus musculus
 
 1
 2
 
  Dmpk
 dystrophia myotonica-protein kinase
 Mus musculus
 Unknown
 1
 2
 
  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
 
 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
 
 2
 3
 
  kn
 knot
 Drosophila melanogaster
 
 1
 15
 
 eukaryotic translation initiation factor 4E binding protein 2
 Mus musculus
 
 1
 5
 
  Eph
 Eph receptor tyrosine kinase
 Drosophila melanogaster
 
 1
 2
 
  Eps8
 epidermal growth factor receptor pathway substrate 8
 Mus musculus
 
 1
 1
 
  Esrrb
 Estrogen related receptor, beta
 Mus musculus
 Unknown
 1
 2
 
 family with sequence similarity 19, member A3 
 Mus musculus
 
 1
 2
 
  Folh1
 folate hydrolase
 Mus musculus
 -
 2
 4
 
  Foxg1
 Forkhead box G1
 Mus musculus
 Unknown
 1
 1
 
  Gabra5
 Gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5
 Mus musculus
 Unreported
 1
 1
 
  Lcch3
 Ligand-gated chloride channel homolog 3
 Drosophila melanogaster
 
 1
 2
 
  Gabrb3
 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
 Mus musculus
 Unknown
 6
 17
 
 growth arrest and DNA-damage-inducible 45 beta
 Mus musculus
 
 1
 1
 
 growth arrest and DNA-damage-inducible, beta
 Rattus norvegicus
 
 1
 1
 
  Grid1
 glutamate receptor, ionotropic, delta 1
 Mus musculus
 
 1
 1
 
  Grik4
 Glutamate receptor, ionotropic, kainate 4
 Mus musculus
 
 3
 8
 
  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
 
  Gstm1
 Glutathione S-transferase, mu 1
 Mus musculus
 Unknown
 1
 1
 
  Hdc
 histidine decarboxylase
 Mus musculus
 
 2
 20
 
  Hmgn1
 High mobility group nucleosomal binding domain 1
 Mus musculus
 Unknown
 1
 2
 
  Htr2a
 5-hydroxytryptamine (serotonin) receptor 2A
 Mus musculus
 Unknown
 2
 4
 
  Htr3a
 5-hydroxytryptamine (serotonin) receptor 3A
 Mus musculus
 Unknown
 2
 3
 
  Ifng
 Interferon gamma
 Mus musculus
 
 1
 3
 
  Itgb3
 integrin beta 3
 Mus musculus
 Unknown
 2
 2
 
  kcnj10
 ATP-sensitive inward rectifier potassium channel 10
 Danio rerio
 
 1
 8
 
  Irk1
 Inwardly rectifying potassium channel 2
 Drosophila melanogaster
 
 1
 4
 
  Kcnma1
 potassium large conductance calcium-activated channel, subfamily M, alpha member 1
 Mus musculus
 Yes
 3
 3
 
  kctd13
 potassium channel tetramerization domain containing 13
 Danio rerio
 
 4
 13
 
  Kctd13
 potassium channel tetramerisation domain containing 13
 Mus musculus
 16p11.2
 1
 2
 
 kirre like nephrin family adhesion molecule 3
 Mus musculus
 
 1
 1
 
  Kmt2a
 Lysine (K)-specific methyltransferase 2A
 Mus musculus
 
 2
 3
 
 Histone methyltransferase 4-20
 Drosophila melanogaster
 
 1
 1
 
  lat
 linker for activation of T cells
 Danio rerio
 
 1
 12
 
  Lrrc7
 Leucine rich repeat containing 7
 Mus musculus
 Unknown
 1
 1
 
  Magel2
 melanoma antigen, familyL,2
 Mus musculus
 
 3
 1
 
  mapk3
 mitogen-activated protein kinase 3
 Danio rerio
 
 2
 2
 
  rl
 rolled
 Drosophila melanogaster
 
 1
 13
 
  Mbd3
 methyl-CpG binding domain protein 3
 Mus musculus
 Unknown
 1
 1
 
  Mdga2
 MAM domain containing glycosylphosphatidylinositol anchor 2
 Mus musculus
 
 1
 2
 
  nbeaa
 neurobeachin
 Danio rerio
 13q13.3
 1
 10
 
  rg
 rugose
 Drosophila melanogaster
 13q13.3
 1
 13
 
  Nbea
 neurobeachin
 Mus musculus
 Unknown
 2
 2
 
  Smr
 Smrter
 Drosophila melanogaster
 
 1
 1
 
  Nf1
 Neurofibromin 1
 Drosophila melanogaster
 
 1
 21
 
  Nf1
 neurofibramatosis 1
 Mus musculus
 Unknown
 6
 9
 
  Nlg2
 Neuroligin 2
 Drosophila menalogaster
 
 0
 0
 
  Nlgn2
 neuroligin 2
 Mus musculus
 
 2
 4
 
  Nlgn2
 neuroligin 2
 Rattus norvegicus
 
 1
 1
 
  Nos2
 Nitric oxide synthase 2, inducible
 Mus musculus
 Unknown
 3
 1
 
  Nrxn2
 Neurexin 2
 Mus musculus
 
 2
 3
 
  Ntng1
 Netrin G1
 Mus musculus
 Unknown
 1
 1
 
  Otud7a
 OTU domain containing 7A 
 Mus musculus
 15q13.3
 1
 2
 
  P2rx4
 purinergic receptor P2X, ligand-gated ion channel 4
 Mus musculus
 
 1
 2
 
  pacs1a
 phosphofurin acidic cluster sorting protein 1a
 Danio rerio
 
 1
 2
 
 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
 Mus musculus
 
 1
 2
 
  Pax6
 paired box 6
 Rattus norvegicus
 
 2
 2
 
  Per1
 Period homolog 1
 Mus musculus
 Unknown
 1
 1
 
 peptidoglycan recognition protein 2
 Mus musculus
 
 1
 1
 
  Plaur
 plasminogen activator, urokinase receptor
 Mus musculus
 Unknown
 1
 1
 
  Plppr4
 phospholipid phosphatase related 4
 Mus musculus
 
 3
 8
 
  row
 relative of woc
 Drosophila melanogaster
 
 1
 2
 
 prickle homolog 1 (Drosophila)
 Mus musculus
 
 1
 5
 
  Prkcb
 Protein Kinase C, beta
 Mus musculus
 Unknown
 1
 1
 
  Pten
 Phosphatase and tensin homolog
 Drosophila melanogaster
 
 1
 4
 
  Pten
 phosphatase and tensin homolog
 Mus musculus
 Unknown
 12
 21
 
  Rai1
 retinoic acid induced 1
 Mus musculus
 Unknown
 2
 2
 
  Rasd1
 RAS, dexamethasone induced 1
 Mus musculus
 
 1
 2
 
  Rbfox1
 RNA binding protein, fox-1 homolog
 Mus musculus
 Unknown
 1
 2
 
  roraa
 RAR-related orphan receptor A, paralog a
 Danio rerio
 
 1
 25
 
  Scn8a
 sodium channel, voltage-gated, type VIII, alpha
 Mus musculus
 Unknown
 1
 1
 
  Shank1
 SH3/ankyrin domain gene 1
 Mus musculus
 Unknown
 3
 2
 
  Shank2
 SH3/ankyrin domain gene 2
 Mus musculus
 
 5
 14
 
  Sin3A
 Sin3A
 Drosophila melanogaster
 
 1
 2
 
  Slc1a2
 solute carrier family 1 (glial high affinity glutamate transporter), member 2
 Mus musculus
 
 1
 8
 
  Slc6a4
 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
 Mus musculus
 Unknown
 6
 8
 
  Slc6a4
 solute carrier family 6 member 4
 Rattus norvegicus
 
 2
 3
 
  Slc7a5
 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
 Mus musculus
 
 1
 2
 
 SLIT and NTRK-like family, member 5
 Mus musculus
 
 1
 2
 
  dom
 domino
 Drosophila melanogaster
 
 1
 1
 
  Srrm4
 serine/arginine repetitive matrix 4
 Mus musculus
 12q24.23
 1
 2
 
 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
 Mus musculus
 Unknown
 2
 1
 
  Taok2
 TAO kinase 2 
 Mus musculus
 
 1
 5
 
  da
 daughterless
 Drosophila melanogaster
 
 1
 1
 
  Tcf4
 transcription factor 4
 Mus musculus
 
 1
 3
 
  Tcf4
 transcription factor 4
 Rattus norvegicus
 
 2
 5
 
  Thra
 thyroid hormone receptor alpha
 Mus musculus
 Unknown
 1
 1
 
  Tph2
 Tryptophan hydroxylase 2
 Mus musculus
 
 2
 3
 
 trafficking protein particle complex 6b
 Danio rerio
 
 1
 8
 
  Trpc6
 Transient receptor potential cation channel, subfamily C, member 6
 Mus musculus
 
 1
 4
 
  Tsc2
 tuberous sclerosis 2
 Mus musculus
 Unknown
 7
 15
 
  Tsc2
 tuberous sclerosis 2
 Rattus norvegicus
 Unknown
 3
 3
 
  Tshz3
 Teashirt zinc finger family member 3
 Mus musculus
 
 1
 2
 
  Tyr
 Tyrosinase
 Mus musculus
 Unknown
 1
 1
 
  Ube3a
 Ubiquitin protein ligase E3A
 Drosophila melanogaster
 
 4
 64
 
  Ube3a
 ubiquitin protein ligase E3A
 Mus musculus
 Unknown
 12
 30
 
  Ube3b
 ubiquitin protein ligase E3B
 Mus musculus
 
 1
 1
 
  Ucn3
 Urocortin 3
 Mus musculus
 
 1
 2
 
  Usp7
 Ubiquitin specific peptidase 7
 Mus musculus
 
 1
 1
 
  Vrk3
 vaccinia related kinase 3
 Mus musculus
 19q13.33
 1
 5
 
  Wwox
 WW domain-containing oxidoreductase
 Rattus norvegicus
 
 3
 1

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
4-aminobutyrate aminotransferase
11
actinin, alpha 4
8
ADK
adenosine kinase
6
ATP/GTP binding protein-like 4
1
ankyrin 3, node of Ranvier (ankyrin G)
57
ankyrin repeat domain 11
30
amyloid beta (A4) precursor protein-binding, family A, member 2
32
anterior pharynx defective 1 homolog A (C. elegans)
2
APP
amyloid beta (A4) precursor protein
79
Rho GTPase activating protein 32
9
Rho GTPase-activating protein 33
5
aryl-hydrocarbon receptor nuclear translocator 2
297
ash1 (absent, small, or homeotic)-like (Drosophila)
21
additional sex combs like 3 (Drosophila)
2
ATPase, class V, type 10A
1
ATPase Na+/K+ transporting subunit alpha 3
9
attractin-like 1
1
arginine vasopressin receptor 1A
3
BAI1-associated protein 2
22
branched chain ketoacid dehydrogenase kinase
23
brain-derived neurotrophic factor
9
breast cancer 2, early onset
84
CA6
Carbonic anhydrase 6
7
calcium channel, voltage-dependent, L type, alpha 1C subunit
48
calcium channel, voltage-dependent, R type, alpha 1E subunit
2
calcium channel, voltage-dependent, T type, alpha 1G subunit
9
calcium channel, voltage-dependent, T type, alpha 1H subunit
14
calcium channel, voltage-dependent, beta 2 subunit
7
cell adhesion molecule 1
22
cell cycle associated protein 1
4
cancer susceptibility candidate 4
9
coiled-coil and C2 domain containing 1A
13
CD44 molecule (Indian blood group)
53
CDC42 binding protein kinase beta (DMPK-like)
8
Cadherin-11
2
cadherin 8, type 2
20
chromodomain helicase DNA binding protein 2
47
chromodomain helicase DNA binding protein 8
4376
cholinergic receptor, nicotinic, alpha 7 (neuronal)
17
calsyntenin 3
6
c-Maf inducing protein
4
Contactin-associated protein-like 4
6
CREB binding protein
18
casein kinase 1, delta
55
CCCTC-binding factor (zinc finger protein)
54
catenin (cadherin-associated protein), alpha 3
33
DEAF1 transcription factor
25
density-regulated protein
32
diacylglycerol kinase, zeta
4
7-dehydrocholesterol reductase
10
DIP2 disco-interacting protein 2 homolog A (Drosophila)
31
disrupted in schizophrenia 1
178
DLG4discs, large homolog 4 (Drosophila)
127
dystrophia myotonica-protein kinase
18
Dmx-like 2
29
dynamin 1-like
16
dihydropyrimidine dehydrogenase
7
dopamine receptor D2
45
Down syndrome cell adhesion molecule
8
dishevelled, dsh homolog 1 (Drosophila)
4
DPY30 domain-containing protein 1
13
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
55
eukaryotic translation initiation factor 4E binding protein 2
9
echinoderm microtubule associated protein like 1
11
E1A binding protein p400
56
EPH receptor B2
6
ERG
v-ets erythroblastosis virus E26 oncogene homolog (avian)
1
estrogen receptor 2 (ER beta)
11
exocyst complex component 5
42
exocyst complex component 6
22
FANCD2/FANCI-associated nuclease 1
12
F-box protein 33
8
forkhead box G1
34
gamma-aminobutyric acid (GABA) A receptor, beta 3
29
Growth arrest and DNA damage-inducible protein GADD45 beta
17
gephyrin
45
Glutamate receptor ionotropic, NMDA 2A
9
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
77
glutamate receptor interacting protein 1
82
glutamate receptor, metabotropic 5
38
Glutathione S-transferase Mu 1
6
hepatic and glial cell adhesion molecule
8
HECT and RLD domain containing E3 ubiquitin protein ligase 2
73
high mobility group nucleosome binding domain 1
35
homeobox B1
1
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
43
hydroxysteroid (11-beta) dehydrogenase 1
13
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
3
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
51
jumonji domain containing 1C
13
katanin p60 subunit A-like 2
3
potassium inwardly-rectifying channel, subfamily J, member 10
21
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
26
potassium channel tetramerisation domain containing 13
40
lysine (K)-specific demethylase 5B
97
Lysine-specific demethylase 6B
14
kinesin light chain 2
22
lysine (K)-specific methyltransferase 2A
3
kaptin (actin binding protein)
30
leucine zipper, putative tumor suppressor 2
235
MAGE-like 2
7
mitogen-activated protein kinase 3
31
MAP/microtubule affinity-regulating kinase 1
10
methyl-CpG binding domain protein 1
32
methyl-CpG binding domain protein 3
47
melanocortin 4 receptor
1
MAM domain containing glycosylphosphatidylinositol anchor 2
1
mediator complex subunit 13-like
21
mindbomb E3 ubiquitin protein ligase 1
364
MKL/myocardin-like protein 2
5
metal-regulatory transcription factor 1
3
mechanistic target of rapamycin (serine/threonine kinase)
41
neurobeachin
120
NCK-associated protein 5-like
4
NEL-like 1 (chicken)
22
neogenin 1
10
NF1
neurofibromin 1
40
neuroligin 2
18