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Human Gene Search Results
Download Human Gene
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
41
16
Neale BM , et al. 2012
Edit
GEN1087
ACTL6B
actin like 6B
7q22.1
Rare single gene variant
2
Yes
109
16
Bell S , et al. 2019
Edit
GEN471
ADNP
Activity-dependent neuroprotector homeobox
20q13.13
Rare Single Gene variant
5
219
101
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
33
24
Alvarez Retuerto AI , et al. 2008
Edit
GEN009
ALDH5A1
aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )
6p22.3
Syndromic
2
Yes
19
22
Pearl PL , et al. 2003
Edit
GEN981
AMBRA1
autophagy and beclin 1 regulator 1
11p11.2
Functional
2
6
8
Dere E , et al. 2014
Edit
GEN587
ANK2
Ankyrin 2, neuronal
4q25-q26
Rare Single Gene variant
5
212
44
Iossifov I , et al. 2012
Edit
GEN011
ANKRD11
ankyrin repeat domain 11
16q24.3
Rare Single Gene variant
5
308
90
Marshall CR , et al. 2008
Edit
GEN673
ANKS1B
ankyrin repeat and sterile alpha motif domain containing 1B
12q23.1
Rare single gene variant
2
27
8
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
15
11
Babatz TD , et al. 2009
Edit
GEN013
APC
adenomatosis polyposis coli
5q22.2
Genetic Association
2
9
16
Barber JC , et al. 1994
Edit
GEN570
APP
Amyloid beta (A4) precursor protein
21q21.3
Functional
2
2
6
Bailey AR , et al. 2013
Edit
GEN816
ARHGAP32
Rho GTPase activating protein 32
11q24.3
Multigenic CNV
3
31
12
Akshoomoff N , et al. 2014
Edit
GEN713
ARHGAP33
Rho GTPase activating protein 33
19q13.12
Functional
2
8
5
Schuster S , et al. 2015
Edit
GEN1007
ARHGEF10
Rho guanine nucleotide exchange factor 10
8p23.3
Rare single gene variant
2
16
9
Lu DH , et al. 2018
Edit
GEN357
ARID1B
AT-rich interaction domain 1B
6q25.3
Rare single gene variant
5
243
104
Nord AS , et al. 2011
Edit
GEN016
ARNT2
aryl-hydrocarbon receptor nuclear translocator 2
15q25.1
Syndromic
2
12
16
Chakrabarti B , et al. 2009
Edit
GEN017
ARX
aristaless related homeobox
Xp21.3
Rare single gene variant
3
63
28
Sherr EH 2003
Edit
GEN642
ASH1L
Ash1 (absent, small, or homeotic)-like (Drosophila)
1q22
Rare single gene variant
5
176
52
Willsey AJ , et al. 2013
Edit
GEN939
ASPM
abnormal spindle microtubule assembly
1q31.3
Syndromic
4
73
16
Iossifov I et al. 2014
Edit
GEN020
ASTN2
astrotactin 2
9q33.1
Rare Single Gene variant
2
43
26
Glessner JT , et al. 2009
Edit
GEN623
ATG7
Autophagy related 7
3p25.3
Functional
2
Yes
18
11
Tang G , et al. 2014
Edit
GEN829
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
19q13.2
Syndromic
3
68
28
Demos MK , et al. 2014
Edit
GEN273
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
3p25.3
Genetic Association
4
37
18
Carayol J , et al. 2011
Edit
GEN831
ATP8A1
ATPase phospholipid transporting 8A1
4p13
Rare single gene variant
2
5
6
Kerr DJ , et al. 2016
Edit
GEN411
ATRNL1
Attractin-like 1
10q25.3
Rare single gene variant
3
8
8
Stark Z , et al. 2010
Edit
GEN288
ATRX
alpha thalassemia/mental retardation syndrome X-linked
Xq21.1
Syndromic
3
53
44
Gibbons R 2006
Edit
GEN022
AUTS2
activator of transcription and developmental regulatorAUTS2
7q11.22
Rare Single Gene variant
5
199
82
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
2
38
27
Yirmiya N , et al. 2006
Edit
GEN024
BAIAP2
BAI1-associated protein 2
17q25.3
Genetic Association
3
18
17
Toma C , et al. 2010
Edit
GEN423
BCKDK
Branched chain ketoacid dehydrogenase kinase
16p11.2
Rare single gene variant
2
Yes
26
10
Novarino G , et al. 2012
Edit
GEN643
BCL11A
B-cell CLL/lymphoma 11A (zinc finger protein)
2p16.1
Rare single gene variant
4
85
34
Iossifov I , et al. 2012
Edit
GEN625
BDNF
Brain-derived neurotrophic factor
11p14.1
Functional
0
3
16
Kyzar EJ , et al. 2012
Edit
GEN820
BRINP1
BMP/retinoic acid inducible neural specific 1
9q33.1
Functional
0
1
4
Kobayashi M , et al. 2014
Edit
GEN1219
BRINP3
BMP/retinoic acid inducible neural specific 3
1q31.1
Functional
2
Yes
4
4
Schmitz-Abe K et al. 2020
Edit
GEN408
CACNA1B
calcium voltage-gated channel subunit alpha1 B
9q34.3
Genetic association
3
40
15
Yatsenko SA , et al. 2012
Edit
GEN031
CACNA1C
calcium channel, voltage-dependent, L type, alpha 1C subunit
12p13.33
Syndromic
4
89
68
Splawski I , et al. 2004
Edit
GEN032
CACNA1D
calcium channel, voltage-dependent, L type, alpha 1D
3p21.1
Functional
4
75
37
Jinnah HA , et al. 1999
Edit
GEN033
CACNA1F
calcium channel, voltage-dependent, alpha 1F
Xp11.23
Genetic Association
2
13
12
Strom TM , et al. 1998
Edit
GEN034
CACNA1G
calcium channel, voltage-dependent, T type, alpha 1G subunit
17q21.33
Genetic Association
3
58
34
Strom SP , et al. 2009
Edit
GEN035
CACNA1H
calcium channel, voltage-dependent, alpha 1H subunit
16p13.3
Rare Single Gene variant
3
69
38
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
51
17
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
24
13
Cisternas FA , et al. 2003
Edit
GEN864
CAMK2A
calcium/calmodulin dependent protein kinase II alpha
5q32
Rare single gene variant
4
28
16
Iossifov I et al. 2014
Edit
GEN555
CAPRIN1
Cell cycle associated protein 1
11p13
Functional
4
18
7
Jiang YH , et al. 2013
Edit
GEN1350
CASKIN1
CASK interacting protein 1
16p13.3
Functional
3
15
9
Zhou X et al. 2022
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
37
22
Manzini MC , et al. 2014
Edit
GEN328
CD38
CD38 molecule
4p15.32
Genetic Association
2
13
10
Munesue T , et al. 2010
Edit
GEN046
CDKL5
cyclin-dependent kinase-like 5
Xp22.13
Syndromic
4
Yes
139
67
Weaving LS , et al. 2004
Edit
GEN487
CELF4
CUGBP, Elav-like family member 4
18q12.2
Functional
3
29
16
Halgren C , et al. 2012
Edit
GEN523
CELF6
CUGBP, Elav-like family member 6
15q23
Genetic association/Rare single gene variant/Functional
2
7
5
Dougherty JD , et al. 2013
Edit
GEN583
CEP290
Centrosomal protein 290kDa
12q21.32
Syndromic
3
26
16
Coppieters F , et al. 2010
Edit
GEN548
CHD2
Chromodomain helicase DNA binding protein 2
15q26.1
Syndromic
5
239
95
Carvill GL , et al. 2013
Edit
GEN912
CHD5
chromodomain helicase DNA binding protein 5
1p36.31
Rare single gene variant
3
32
12
Pisansky MT , et al. 2017
Edit
GEN280
CHD7
chromodomain helicase DNA binding protein 7
8q12.2
Syndromic
4
71
55
Vissers LE , et al. 2004
Edit
GEN334
CHD8
chromodomain helicase DNA binding protein 8
14q11.2
Multigenic CNV
5
345
138
O'Roak BJ , et al. 2012
Edit
GEN882
CIC
capicua transcriptional repressor
19q13.2
Rare single gene variant
4
35
20
Iossifov I et al. 2014
Edit
GEN1118
CLCN4
chloride voltage-gated channel 4
Xp22.2
Syndromic
4
93
18
Feliciano P et al. 2019
Edit
GEN579
CLSTN3
Calsyntenin 3
12p13.31
Functional
2
8
8
Pettem KL , et al. 2013
Edit
GEN050
CNTN4
contactin 4
3p26.3-p26.2
Syndromic
3
32
31
Roohi J , et al. 2008
Edit
GEN051
CNTNAP2
contactin associated protein-like 2
7q35-q36.1
Syndromic
4
186
108
Arking DE , et al. 2008
Edit
GEN616
CNTNAP4
Contactin associated protein-like 4
16q23.1
Rare Single Gene variant
3
33
16
Karayannis T , et al. 2014
Edit
GEN214
COP1
COP1 E3 ubiquitin ligase
1q25.1-q25.2
Genetic Association
2
4
12
Glessner JT , et al. 2009
Edit
GEN844
CRHR2
corticotropin releasing hormone receptor 2
7p14.3
Functional
2
2
5
Shemesh Y , et al. 2016
Edit
GEN1485
CRMP1
collapsin response mediator protein 1
4p16.2
Functional
3
10
9
Juan Liu et al. 2024
Edit
GEN330
CSNK1D
casein kinase 1, delta
17q25.3
Rare Single Gene variant
2
5
4
Pinto D , et al. 2010
Edit
GEN996
CSNK1E
casein kinase 1 epsilon
22q13.1
Functional
3
8
9
De Rubeis S , et al. 2014
Edit
GEN1196
CSNK2A1
casein kinase 2 alpha 1
20p13
Rare single gene variant
4
54
22
Iossifov I et al. 2014
Edit
GEN472
CTNNB1
catenin beta 1
3p22.1
Rare Single Gene variant
4
279
48
O'Roak BJ , et al. 2012
Edit
GEN711
CTNND2
Catenin (cadherin-associated protein), delta 2
5p15.2
Rare single gene variant
3
30
19
Turner TN , et al. 2015
Edit
GEN054
CTTNBP2
cortactin binding protein 2
7q31.31
Rare Single Gene variant
3
46
16
Cheung J , et al. 2001
Edit
GEN409
CUL3
Cullin 3
2q36.2
Rare single gene variant
5
115
43
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
3
16
26
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
3
42
7
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
371
67
Snijders Blok L , et al. 2015
Edit
GEN610
DEAF1
DEAF1 transcription factor
11p15.5
Rare single gene variant
5
104
44
Vulto-van Silfhout AT , et al. 2014
Edit
GEN063
DHCR7
7-dehydrocholesterol reductase
11q13.4
Syndromic
2
40
22
Tierney E , et al. 2001
Edit
GEN1405
DHX9
DExH-box helicase 9
1q25.3
Rare single gene variant
3
25
5
Yamada M et al. 2023
Edit
GEN644
DIP2A
DIP2 disco-interacting protein 2 homolog A (Drosophila)
21q22.3
Rare single gene variant
3
19
15
Iossifov I , et al. 2012
Edit
GEN065
DISC1
disrupted in schizophrenia 1
1q42.2
Syndromic
2
36
39
Kilpinen H , et al. 2007
Edit
GEN676
DLG1
discs large MAGUK scaffold protein 1
3q29
Rare single gene variant
3
12
6
Li J , et al. 2015
Edit
GEN412
DLG4
discs large MAGUK scaffold protein 4
17p13.1
Functional
5
85
26
Feyder M , et al. 2010
Edit
GEN677
DLGAP1
DLG associated protein 1
18p11.31
Rare single gene variant
2
18
13
Li J , et al. 2015
Edit
GEN066
DLGAP2
discs, large (Drosophila) homolog-associated protein 2
8p23.3
Rare Single Gene variant
3
U
38
21
Marshall CR , et al. 2008
Edit
GEN070
DMD
dystrophin (muscular dystrophy, Duchenne and Becker types)
Xp21.2-p21.1
Syndromic
3
66
57
Wu JY , et al. 2006
Edit
GEN071
DMPK
dystrophia myotonica-protein kinase
19q13.32
Syndromic
3
17
14
Ekstrm AB , et al. 2008
Edit
GEN762
DNMT3A
DNA (cytosine-5-)-methyltransferase 3 alpha
2p23.3
Rare single gene variant
4
146
39
Sanders SJ , et al. 2015
Edit
GEN603
DOCK4
Dedicator of cytokinesis 4
7q31.1
Genetic association/multigenic CNV
2
21
12
Maestrini E , et al. 2009
Edit
GEN073
DPP6
dipeptidyl-peptidase 6
7q36.2
Genetic Association
3
29
29
Marshall CR , et al. 2008
Edit
GEN991
DPYSL3
dihydropyrimidinase like 3
5q32
Rare single gene variant
2
3
3
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
2
6
9
de Krom M , et al. 2008
Edit
GEN645
DSCAM
Down syndrome cell adhesion molecule
21q22.2
Rare single gene variant
4
109
24
Iossifov I et al. 2014
Edit
GEN796
DVL1
Dishevelled segment polarity protein 1
1p36.33
Functional
2
1
4
Lijam N , et al. 1997
Edit
GEN797
DVL3
Dishevelled segment polarity protein 3
3q27.1
Rare single gene variant
2
4
6
Dong S , et al. 2014
Edit
GEN888
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
14q32.31
Rare single gene variant
4
124
42
De Rubeis S , et al. 2014
Edit
GEN367
DYRK1A
Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
21q22.13
Syndromic
5
304
97
O'Roak BJ , et al. 2012
Edit
GEN989
EBF3
early B-cell factor 3
10q26.3
Rare single gene variant
4
110
28
Tanaka AJ , et al. 2017
Edit
GEN608
EEF1A2
Eukaryotic translation elongation factor 1 alpha 2
20q13.33
Syndromic
3
69
24
Nakajima J , et al. 2014
Edit
GEN344
EHMT1
Euchromatic histone-lysine N-methyltransferase 1
9q34.3
Syndromic
5
194
49
Talkowski ME , et al. 2012
Edit
GEN077
EIF4E
eukaryotic translation initiation factor 4E
4q23
Rare single gene variant
2
9
15
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
5
4
Gonatopoulos-Pournatzis T , et al. 2020
Edit
GEN078
EN2
engrailed homolog 2
7q36.3
Genetic Association
2
12
27
Gharani N , et al. 2004
Edit
GEN079
EPHA6
EPH receptor A6
3q11.2
Rare Single Gene variant
2
10
10
Pinto D , et al. 2010
Edit
GEN410
EPHB2
EPH receptor B2
1p36.12
Rare single gene variant
3
62
10
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
16
19
Pinto D , et al. 2010
Edit
GEN678
ERBIN
erbb2 interacting protein
5q12.3
Rare single gene variant
3
6
9
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
0
6
9
Wang K , et al. 2009
Edit
GEN361
EXT1
Exostosin 1
8q24.11
Rare single gene variant
3
8
7
Li H , et al. 2002
Edit
GEN090
FEZF2
FEZ family zinc finger 2
3p14.2
Genetic Association
3
11
12
Wang K , et al. 2009
Edit
GEN1030
FGFR2
fibroblast growth factor receptor 2
10q26.13
Functional
3
11
10
Szczurkowska J , et al. 2018
Edit
GEN093
FMR1
fragile X messenger ribonucleoprotein 1
Xq27.3
Functional
3
54
78
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
4
99
68
Kortm F , et al. 2011
Edit
GEN095
FOXP1
forkhead box P1
3p13
Rare Single Gene variant
5
212
92
O'Roak BJ , et al. 2011
Edit
GEN096
FOXP2
forkhead box P2
7q31.1
Rare single gene variant
3
106
61
Gong X , et al. 2004
Edit
GEN1434
FRMD5
FERM domain containing 5
15q15.3
Rare single gene variant
2
13
6
Tian-Jie Lyu et al. 2024
Edit
GEN1486
FRRS1L
ferric chelate reductase 1 like
9q31.3
Rare single gene variant
2
3
2
Kang Seon Lee et al. 2025
Edit
GEN1264
GABBR1
gamma-aminobutyric acid type B receptor subunit 1
6p22.1
Functional
4
13
12
Satterstrom FK et al. 2020
Edit
GEN827
GABRA5
gamma-aminobutyric acid type A receptor alpha5 subunit
15q12
Genetic association
2
6
11
Fatemi SH , et al. 2010
Edit
GEN100
GABRB1
gamma-aminobutyric acid (GABA) A receptor, beta 1
4p12
Genetic Association
2
9
9
Ma DQ , et al. 2005
Edit
GEN1166
GABRB2
gamma-aminobutyric acid type A receptor subunit beta2
5q34
Rare single gene variant
2
8
7
Iossifov I et al. 2014
Edit
GEN101
GABRB3
gamma-aminobutyric acid (GABA) A receptor, beta 3
15q12
Genetic Association
4
Yes
148
53
Cook EH Jr , et al. 1998
Edit
GEN606
GAD1
Glutamate decarboxylase 1 (brain, 67kDa)
2q31.1
Functional
2
6
9
Yip J , et al. 2007
Edit
GEN742
GADD45B
Growth arrest and DNA-damage-inducible, beta
19p13.3
Functional
2
2
5
Garbett K , et al. 2008
Edit
GEN414
GAP43
Growth associated protein 43
3q13.31
Functional
2
1
2
Zaccaria KJ , et al. 2010
Edit
GEN646
GIGYF1
GRB10 interacting GYF protein 1
7q22.1
Rare single gene variant
4
100
22
Iossifov I et al. 2014
Edit
GEN721
GIGYF2
GRB10 interacting GYF protein 2
2q37.1
Rare single gene variant
3
30
10
De Rubeis S , et al. 2014
Edit
GEN104
GLRA2
glycine receptor, alpha 2
Xp22.2
Rare Single Gene variant
3
22
18
Piton A , et al. 2010
Edit
GEN1093
GRIA2
glutamate ionotropic receptor AMPA type subunit 2
4q32.1
Rare single gene variant
4
50
17
De Rubeis S , et al. 2014
Edit
GEN415
GRID1
Glutamate receptor, ionotropic, delta 1
10q23.1-q23.2
Genetic association
2
7
7
Glessner JT , et al. 2009
Edit
GEN283
GRID2
glutamate receptor, ionotropic, delta 2
4q22.1-q22.2
Rare Single Gene variant
2
26
12
Schaaf CP , et al. 2011
Edit
GEN109
GRIK2
glutamate ionotropic receptor kainate type subunit 2
6q16.3
Genetic Association
3
40
24
Jamain S , et al. 2002
Edit
GEN775
GRIK4
Glutamate receptor, ionotropic, kainate 4
11q23.3
Rare single gene variant
2
9
7
Aller MI , et al. 2015
Edit
GEN626
GRIN1
Glutamate receptor, ionotropic, N-methyl D-aspartate 1
9q34.3
Functional
4
Yes
114
36
Gandal MJ , et al. 2012
Edit
GEN111
GRIN2B
glutamate receptor, inotropic, N-methyl D-apartate 2B
12p13.1
Genetic Association
5
276
98
O'Roak BJ , et al. 2011
Edit
GEN112
GRIP1
glutamate receptor interacting protein 1
12q14.3
Rare Single Gene variant, Genetic Association
3
16
17
Mejias R , et al. 2011
Edit
GEN355
GRM5
glutamate metabotropic receptor 5
11q14.2-q14.3
Rare single gene variant
3
26
12
Iossifov I , et al. 2012
Edit
GEN113
GRM8
glutamate receptor, metabotropic 8
7q31.33
Genetic Association
2
16
12
Serajee FJ , et al. 2003
Edit
GEN114
GRPR
Gastrin-releasing peptide receptor
Xp22.2
Genetic Association
2
7
9
Ishikawa-Brush Y , et al. 1997
Edit
GEN416
GSK3B
Glycogen synthase kinase 3 beta
3q13.33
Functional
4
23
7
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
3
13
13
Malenfant P , et al. 2011
Edit
GEN611
HCN1
Hyperpolarization activated cyclic nucleotide-gated potassium channel 1
5p12
Rare single gene variant
3
54
15
Nava C , et al. 2014
Edit
GEN843
HDAC3
histone deacetylase 3
5q31.3
Rare single gene variant
2
8
7
Nott A , et al. 2016
Edit
GEN117
HDAC4
histone deacetylase 4
2q37.3
Syndromic
3
20
19
Williams SR , et al. 2010
Edit
GEN881
HDC
histidine decarboxylase
15q21.2
Functional
2
3
9
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
GEN926
HNRNPU
heterogeneous nuclear ribonucleoprotein U
1q44
Rare single gene variant
4
149
42
Lim ET , et al. 2017
Edit
GEN356
HOMER1
Homer homolog 1 (Drosophila)
5q14.1
Rare single gene variant
3
8
6
Kelleher RJ 3rd , et al. 2012
Edit
GEN122
HOXA1
homeobox A1
7p15.2
Genetic Association
3
22
16
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
13
11
Veenstra-VanderWeele J , et al. 2002
Edit
GEN129
HTR3A
5-hydroxytryptamine (serotonin) receptor 3A
11q23.2
Functional
2
9
9
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
41
32
Bhat SS , et al. 2007
Edit
GEN134
IMMP2L
IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
7q31.1
Rare single gene variant
2
31
17
Petek E , et al. 2001
Edit
GEN542
IQSEC2
IQ motif and Sec7 domain 2
Xp11.22
Syndromic
5
174
61
Shoubridge C , et al. 2010
Edit
GEN137
ITGB3
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
17q21.32
Genetic association
2
17
23
Weiss LA , et al. 2006
Edit
GEN790
JAKMIP1
Janus kinase and microtubule interacting protein 1
4p16.1
Functional
2
9
10
Berg JM , et al. 2015
Edit
GEN1231
KAT6B
lysine acetyltransferase 6B
10q22.2
Rare single gene variant
3
71
14
Wang T et al. 2020
Edit
GEN369
KATNAL2
Katanin p60 subunit A-like 2
18q21.1
Rare Single Gene variant
3
62
19
Sanders SJ , et al. 2012
Edit
GEN1496
KCNH7
potassium voltage-gated channel subfamily H member 7
2q24.2
Genetic association
3
14
11
Chuchu Qi et al. 2025
Edit
GEN140
KCNJ10
potassium voltage-gated channel subfamily J member 10
1q23.2
Genetic Association
3
19
16
Sicca F , et al. 2011
Edit
GEN614
KCNJ2
Potassium inwardly-rectifying channel, subfamily J, member 2
17q24.3
Rare Single Gene variant
2
5
5
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
4
43
34
Laumonnier F , et al. 2006
Edit
GEN553
KCNQ2
potassium voltage-gated channel subfamily Q member 2
20q13.33
Genetic association
4
161
70
Jiang YH , et al. 2013
Edit
GEN363
KCTD13
Potassium channel tetramerisation domain containing 13
16p11.2
Rare single gene variant
0
4
9
Golzio C , et al. 2012
Edit
GEN1364
KDM2B
lysine demethylase 2B
12q24.31
Syndromic
4
44
15
Iossifov I et al. 2014
Edit
GEN1232
KDM5A
lysine demethylase 5A
12p13.33
Rare single gene variant/Functional
2
Yes
10
5
El Hayek L et al. 2020
Edit
GEN647
KDM5B
Lysine (K)-specific demethylase 5B
1q32.1
Rare single gene variant
4
108
30
Iossifov I et al. 2014
Edit
GEN435
KDM5C
lysine demethylase 5C
Xp11.22
Syndromic
4
107
55
Adegbola A , et al. 2008
Edit
GEN896
KDM6A
lysine demethylase 6A
Xp11.3
Syndromic
3
23
17
C Yuen RK et al. 2017
Edit
GEN648
KDM6B
Lysine (K)-specific demethylase 6B
17p13.1
Rare single gene variant
5
141
31
Iossifov I , et al. 2012
Edit
GEN789
KIRREL3
Kin of IRRE like 3 (Drosophila)
11q24.2
Rare single gene variant
3
34
20
Talkowski ME , et al. 2012
Edit
GEN1311
KLF7
Kruppel like factor 7
2q33.3
Multigenic CNV
3
18
15
Powis Z et al. 2018
Edit
GEN700
KMT2A
Lysine (K)-specific methyltransferase 2A
11q23.3
Syndromic
5
226
57
De Rubeis S , et al. 2014
Edit
GEN659
KMT2C
Lysine (K)-specific methyltransferase 2C
7q36.1
Rare single gene variant
5
175
52
O'Roak BJ , et al. 2012
Edit
GEN636
KMT2E
Lysine (K)-specific methyltransferase 2E
7q22.3
Rare single gene variant
4
109
26
Dong S , et al. 2014
Edit
GEN336
KMT5B
lysine methyltransferase 5B
11q13.2
Rare Single Gene variant
5
106
34
Sanders SJ , et al. 2012
Edit
GEN144
LAMC3
laminin, gamma 3
9q34.12
Rare Single Gene variant
3
28
12
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
19
7
Morimura N , et al. 2017
Edit
GEN1020
LRRC4
leucine rich repeat containing 4
7q32.1
Rare single gene variant
2
6
5
Jiang YH , et al. 2013
Edit
GEN417
LRRC7
Leucine rich repeat containing 7
1p31.1
Functional
3
32
7
Carlisle HJ , et al. 2011
Edit
GEN578
MAGEL2
MAGE-like 2
15q11.2
Syndromic
4
59
31
Schaaf CP , et al. 2013
Edit
GEN149
MAOA
monoamine oxidase A
Xp11.3
Genetic Association
2
20
23
Cohen IL , et al. 2003
Edit
GEN1394
MAP1B
microtubule associated protein 1B
5q13.2
Functional
4
18
15
Spataro N et al. 2023
Edit
GEN418
MAPK1
Mitogen-activated protein kinase 1
22q11.22
Functional
2
11
5
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
2
1
2
Giza J , et al. 2010
Edit
GEN1348
MARK2
microtubule affinity regulating kinase 2
11q13.1
Rare single gene variant
5
51
9
Zhou X et al. 2022
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
71
24
Johansen A , et al. 2016
Edit
GEN155
MCPH1
microcephalin 1
8p23.1
Rare Single Gene variant
3
24
21
Ozgen HM , et al. 2009
Edit
GEN156
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
14q21.3
Genetic Association
2
21
10
Bucan M , et al. 2009
Edit
GEN157
MECP2
Methyl CpG binding protein 2
Xq28
Syndromic
5
357
160
Amir RE , et al. 1999
Edit
GEN159
MEF2C
myocyte enhancer factor 2C
5q14.3
Rare Single Gene variant
4
Yes
107
62
Novara F , et al. 2010
Edit
GEN160
MET
met proto-oncogene (hepatocyte growth factor receptor)
7q31.2
Genetic Association
2
41
44
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
20
27
James SJ , et al. 2006
Edit
GEN785
MTOR
mechanistic target of rapamycin kinase
1p36.22
Rare single gene variant
4
72
37
Mroske C , et al. 2015
Edit
GEN892
MYO5A
myosin VA
15q21.2
Rare single gene variant
3
16
8
De Rubeis S , et al. 2014
Edit
GEN533
MYT1L
Myelin transcription factor 1-like
2p25.3
Multigenic CNV
5
155
47
Meyer KJ , et al. 2011
Edit
GEN662
NAA15
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
4q31.1
Rare single gene variant
5
108
33
De Rubeis S , et al. 2014
Edit
GEN166
NBEA
neurobeachin
13q13.3
Rare single gene variant
4
44
30
Castermans D , et al. 2003
Edit
GEN650
NCKAP1
NCK-associated protein 1
2q32.1
Rare single gene variant
4
44
20
Iossifov I , et al. 2012
Edit
GEN855
NCOR1
nuclear receptor corepressor 1
17p12-p11.2
Rare single gene variant
4
65
13
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
GEN440
NELL1
neural EGFL like 1
11p15.1
Genetic association
3
3
Connolly JJ , et al. 2012
Edit
GEN1256
NEUROD2
neuronal differentiation 2
17q12
Rare single gene variant
3
10
4
Sega AG et al. 2019
Edit
GEN538
NEXMIF
neurite extension and migration factor
Xq13.3
Rare single gene variant
4
119
41
Cantagrel V , et al. 2004
Edit
GEN169
NF1
neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
17q11.2
Rare Single Gene variant, Genetic Association
5
59
48
Marui T , et al. 2004
Edit
GEN170
NLGN1
neuroligin 1
3q26.31
Genetic Association
3
19
23
Glessner JT , et al. 2009
Edit
GEN627
NLGN2
Neuroligin 2
17p13.1
Rare single gene variant
3
10
18
Whr M , et al. 2012
Edit
GEN171
NLGN3
neuroligin 3
Xq13.1
Rare Single Gene variant
3
40
60
Jamain S , et al. 2003
Edit
GEN172
NLGN4X
neuroligin 4, X-linked
Xp22.32-p22.31
Rare Single Gene variant
4
56
45
Jamain S , et al. 2003
Edit
GEN175
NOS2
nitric oxide synthase 2
17q11.2
Genetic Association
2
9
11
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
87
32
Bosch DG , et al. 2014
Edit
GEN663
NR3C2
Nuclear receptor subfamily 3, group C, member 2
4q31.23
Rare single gene variant
3
22
12
De Rubeis S , et al. 2014
Edit
GEN177
NRCAM
neuronal cell adhesion molecule
7q31.1
Genetic Association
2
9
6
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
2
6
11
Wu S , et al. 2007
Edit
GEN179
NRXN1
neurexin 1
2p16.3
Rare Single Gene variant
4
Yes
371
125
Feng J , et al. 2006
Edit
GEN271
NRXN2
neurexin 2
11q13.1
Rare Single Gene variant
3
33
19
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
2
Yes
16
6
Abu-Libdeh B , et al. 2019
Edit
GEN756
NUAK1
NUAK family, SNF1-like kinase, 1
12q23.3
Rare single gene variant
2
4
6
Iossifov I , et al. 2012
Edit
GEN184
OPHN1
oligophrenin 1
Xq12
Rare Single Gene variant
2
27
23
Piton A , et al. 2010
Edit
GEN185
OPRM1
opioid receptor, mu 1
6q25.2
Functional
2
4
7
Moles A , et al. 2004
Edit
GEN1005
OTUD7A
OTU deubiquitinase 7A
15q13.3
Multigenic CNV
3
10
11
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
2
54
53
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
55
21
Schuurs-Hoeijmakers JH , et al. 2016
Edit
GEN630
PAFAH1B1
Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
17p13.3
Functional
2
15
14
Sudarov A , et al. 2013
Edit
GEN1037
PAK2
p21 (RAC1) activated kinase 2
3q29
Rare single gene variant/Functional
2
6
7
Wang Y , et al. 2018
Edit
GEN391
PARD3B
Par-3 partitioning defective 3 homolog B (C. elegans)
2q33.3
Genetic association
2
16
11
Anney R , et al. 2012
Edit
GEN667
PAX5
Paired box 5
9p13.2
Rare Single Gene variant
4
25
10
Iossifov I , et al. 2012
Edit
GEN743
PAX6
Paired box 6
11p13
Multigenic CNV
2
7
10
Umeda T , et al. 2011
Edit
GEN189
PCDH10
protocadherin 10
4q28.3
Rare Single Gene variant
2
7
12
Morrow EM , et al. 2008
Edit
GEN190
PCDH19
protocadherin 19
Xq22.1
Syndromic
4
294
72
Piton A , et al. 2010
Edit
GEN1393
PCLO
piccolo presynaptic cytomatrix protein
7q21.11
Genetic association
3
17
13
Liu D et al. 2023
Edit
GEN193
PER1
period homolog 1 (Drosophila)
17p13.1
Genetic Association
2
13
10
Nicholas B , et al. 2007
Edit
GEN859
PGLYRP2
peptidoglycan recognition protein 2
19p13.12
Rare single gene variant
2
5
6
Arentsen T , et al. 2016
Edit
GEN196
PITX1
paired-like homeodomain 1
5q31.1
Genetic Association
2
9
7
Philippi A , et al. 2007
Edit
GEN371
PLAUR
Plasminogen activator, urokinase receptor
19q13.31
Genetic association
2
4
3
Campbell DB , et al. 2009
Edit
GEN198
PLN
phospholamban
6q22.31
Rare Single Gene variant
0
2
5
Marshall CR , et al. 2008
Edit
GEN972
PLPPR4
phospholipid phosphatase related 4
1p21.3-p21.2
Functional
2
7
7
Vogt J , et al. 2015
Edit
GEN872
PLXNB1
plexin B1
3p21.31
Rare single gene variant
3
9
5
De Rubeis S , et al. 2014
Edit
GEN368
POGZ
Pogo transposable element with ZNF domain
1q21.3
Rare single gene variant
5
228
77
Neale BM , et al. 2012
Edit
GEN806
POU3F2
POU class 3 homeobox 2
6q16.1
Functional
2
27
10
Belinson H , et al. 2016
Edit
GEN588
PRICKLE1
Prickle homolog 1 (Drosophila)
12q12
Syndromic
2
9
7
Paemka L , et al. 2013
Edit
GEN545
PRICKLE2
prickle planar cell polarity protein 2
3p14.1
Rare single gene variant/multigenic CNV
3
15
9
Sowers LP , et al. 2013
Edit
GEN201
PRKCB
protein kinase C beta
16p12.2-p12.1
Genetic Association
2
7
8
Philippi A , et al. 2005
Edit
GEN839
PRKDC
protein kinase, DNA-activated, catalytic polypeptide
8q11.21
Syndromic
3
17
9
Filiano AJ , et al. 2016
Edit
GEN188
PRKN
parkin RBR E3 ubiquitin protein ligase
6q26
Genetic Association
2
50
20
Glessner JT , et al. 2009
Edit
GEN203
PTCHD1
patched domain containing 1
Xp22.11
Rare Single Gene variant
3
74
24
Marshall CR , et al. 2008
Edit
GEN204
PTEN
phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
10q23.31
Syndromic
5
217
131
Goffin A , et al. 2001
Edit
GEN205
PTGS2
prostaglandin-endoperoxide synthase 2
1q31.1
Genetic Association
2
3
8
Yoo HJ , et al. 2008
Edit
GEN1455
PTPRD
protein tyrosine phosphatase receptor type D
9p24.1-p23
Genetic association
3
14
14
Yi Yang et al.
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
17
19
Giannandrea M , et al. 2010
Edit
GEN208
RAI1
retinoic acid induced 1
17p11.2
Syndromic
4
38
42
Nakamine A , et al. 2007
Edit
GEN209
RAPGEF4
Rap guanine nucleotide exchange factor (GEF) 4
2q31.1
Rare Single Gene variant, Genetic Association
3
10
18
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
2
U
88
46
Sebat J , et al. 2007
Edit
GEN213
RELN
Reelin
7q22.1
Genetic Association
4
246
67
Persico AM , et al. 2001
Edit
GEN983
RHEB
Ras homolog, mTORC1 binding
7q36.1
Syndromic
0
3
3
Reijnders MRF , et al. 2017
Edit
GEN637
RIMS1
Regulating synaptic membrane exocytosis 1
6q13
Rare single gene variant
3
19
14
Dong S , et al. 2014
Edit
GEN708
RLIM
Ring finger protein, LIM domain interacting
Xq13.2
Rare single gene variant
2
20
7
Tnne E , et al. 2015
Edit
GEN219
RORA
RAR-related orphan receptor A
15q22.2
Functional
3
28
26
Nguyen A , et al. 2010
Edit
GEN1138
RORB
RAR related orphan receptor B
9q21.13
Functional
4
57
16
Iossifov I et al. 2014
Edit
GEN220
RPL10
ribosomal protein L10
Xq28
Rare single gene variant
2
10
14
Klauck SM , et al. 2006
Edit
GEN591
RPS6KA3
Ribosomal protein S6 kinase, 90kDa, polypeptide 3
Xp22.12
Syndromic
3
20
22
O'Roak BJ , et al. 2012
Edit
GEN1384
SCGN
secretagogin, EF-hand calcium binding protein
6p22.2
Functional
2
3
4
Liu Z et al. 2023
Edit
GEN223
SCN1A
sodium channel, voltage-gated, type I, alpha subunit
2q24.3
Rare Single Gene variant
5
315
116
Weiss LA , et al. 2003
Edit
GEN224
SCN2A
sodium channel, voltage-gated, type II, alpha subunit
2q24.3
Rare Single Gene variant
5
468
163
Weiss LA , et al. 2003
Edit
GEN327
SCN8A
sodium channel, voltage gated, type VIII, alpha subunit
12q13.13
Rare single gene variant
4
238
69
Veeramah KR , et al. 2012
Edit
GEN1077
SEMA3F
semaphorin 3F
3p21.31
Functional
2
6
5
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
3
18
23
Melin M , et al. 2006
Edit
GEN1296
SENP1
SUMO specific peptidase 1
12q13.11
Rare single gene variant
2
3
3
Yang K et al. 2021
Edit
GEN607
SETD5
SET domain containing 5
3p25.3
Rare Single Gene variant
4
196
53
Grozeva D , et al. 2014
Edit
GEN601
SGSH
N-sulfoglucosamine sulfohydrolase
17q25.3
Syndromic
2
13
11
Rumsey RK , et al. 2014
Edit
GEN1076
SH3RF2
SH3 domain containing ring finger 2
5q32
Functional
2
6
6
Wang S , et al. 2018
Edit
GEN340
SHANK1
SH3 and multiple ankyrin repeat domains 1
19q13.33
Rare Single Gene variant
4
67
21
Sato D , et al. 2012
Edit
GEN229
SHANK2
SH3 and multiple ankyrin repeat domains 2
11q13.3-q13.4
Rare Single Gene variant
4
155
63
Berkel S , et al. 2010
Edit
GEN230
SHANK3
SH3 and multiple ankyrin repeat domains 3
22q13.33
Rare Single Gene variant
5
464
195
Durand CM , et al. 2006
Edit
GEN837
SIN3A
SIN3 transcription regulator family member A
15q24.2
Rare single gene variant
4
77
19
Witteveen JS , et al. 2016
Edit
GEN706
SLC1A2
Solute carrier family 1 (glial high affinity glutamate transporter), member 2
11p13
Multigenic CNV
2
37
12
Aida T , et al. 2015
Edit
GEN232
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
2q31.1
Genetic Association
0
20
26
Ramoz N , et al. 2004
Edit
GEN835
SLC30A3
solute carrier family 30 member 3
2p23.3
Functional
0
3
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
GEN1406
SLC35G1
solute carrier family 35 member G1
10q23.33
Rare single gene variant
2
5
4
Wang J et al. 2023
Edit
GEN234
SLC4A10
solute carrier family 4, sodium bicarbonate transporter-like, member 10
2q24.2
Genetic Association
3
23
10
Sebat J , et al. 2007
Edit
GEN714
SLC6A1
Solute carrier family 6 (neurotransmitter transporter), member 1
3p25.3
Rare single gene variant
5
192
67
Sanders SJ , et al. 2012
Edit
GEN568
SLC6A3
Solute carrier family 6 (neurotransmitter transporter), member 3
5p15.33
Rare single gene variant
3
16
18
Hamilton PJ , et al. 2013
Edit
GEN235
SLC6A4
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
17q11.2
Genetic Association
2
51
31
Cook EH Jr , et al. 1997
Edit
GEN236
SLC6A8
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Xq28
Rare Single Gene variant
3
33
28
Po-Argelles P , et al. 2006
Edit
GEN860
SLC7A5
solute carrier family 7 member 5
16q24.2
Functional/syndromic
2
Yes
10
6
Tafrlungeanu DC , et al. 2016
Edit
GEN237
SLC9A6
solute carrier family 9 (sodium/hydrogen exchanger), member 6
Xq26.3
Syndromic
2
39
24
Garbern JY , et al. 2010
Edit
GEN238
SLC9A9
solute carrier family 9 (sodium/hydrogen exchanger), member 9
3q24
Rare Single Gene variant
3
24
18
Morrow EM , et al. 2008
Edit
GEN1339
SLITRK2
SLIT and NTRK like family member 2
Xq27.3
Rare single gene variant
3
16
8
El Chehadeh S et al. 2022
Edit
GEN558
SLITRK5
SLIT and NTRK like family member 5
13q31.2
Functional
3
12
10
Shmelkov SV , et al. 2010
Edit
GEN348
SPAST
Spastin
2p22.3
Rare Single Gene variant
3
20
19
Talkowski ME , et al. 2012
Edit
GEN1244
SPTBN1
spectrin beta, non-erythrocytic 1
2p16.2
Rare single gene variant
4
61
16
Iossifov I et al. 2014
Edit
GEN871
SRCAP
Snf2 related CREBBP activator protein
16p11.2
Rare single gene variant
5
77
21
Iossifov I et al. 2014
Edit
GEN671
SRRM4
Serine/arginine repetitive matrix 4
12q24.23
Functional
2
3
7
Irimia M , et al. 2014
Edit
GEN420
ST8SIA2
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
15q26.1
Genetic association
2
13
12
Anney R , et al. 2010
Edit
GEN842
STAT1
signal transducer and activator of transcription 1
2q32.2
Rare single gene variant
2
2
3
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
GEN600
STX1A
Syntaxin 1A (brain)
7q11.23
Genetic association
2
15
7
Nakamura K , et al. 2008
Edit
GEN390
STXBP1
Syntaxin binding protein 1
9q34.11
Syndromic
5
332
85
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
4
48
32
Fassio A , et al. 2011
Edit
GEN563
SYN2
Synapsin II
3p25.2
Genetic association
2
5
7
Corradi A , et al. 2013
Edit
GEN564
SYN3
Synapsin III
22q12.3
Functional
2
6
5
Greco B , et al. 2013
Edit
GEN245
SYNGAP1
synaptic Ras GTPase activating protein 1
6p21.32
Rare Single Gene variant
5
313
129
Hamdan FF , et al. 2011
Edit
GEN1006
TAOK2
TAO kinase 2
16p11.2
Rare single gene variant
4
36
14
C Yuen RK et al. 2017
Edit
GEN477
TBR1
T-box, brain, 1
2q24.2
Functional
4
82
51
O'Roak BJ , et al. 2012
Edit
GEN286
TBX1
T-box 1
22q11.21
Syndromic
2
4
7
Paylor R , et al. 2006
Edit
GEN633
TCF20
Transcription factor 20 (AR1)
22q13.2
Rare single gene variant
5
113
36
Babbs C , et al. 2014
Edit
GEN592
TCF4
Transcription factor 4
18q21.2
Syndromic
4
86
82
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
4
37
14
Iossifov I et al. 2014
Edit
GEN823
TERT
telomerase reverse transcriptase
5p15.33
Rare single gene variant
2
2
3
Kim KC , et al. 2015
Edit
GEN728
TET2
Tet methylcytosine dioxygenase 2
4q24
Rare single gene variant
3
10
8
Iossifov I et al. 2014
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
3
12
10
Xu D , et al. 2013
Edit
GEN254
TPH2
tryptophan hydroxylase 2
12q21.1
Genetic Association
2
12
17
Coon H , et al. 2005
Edit
GEN1469
TRAP1
TNF receptor associated protein 1
16p13.3
Rare single gene variant
2
13
4
MaÅ?gorzata Rydzanicz et al. 2024
Edit
GEN914
TRAPPC6B
trafficking protein particle complex 6B
14q21.1
Rare single gene variant
2
30
9
Marin-Valencia I , et al. 2017
Edit
GEN1142
TRIM32
tripartite motif containing 32
9q33.1
Rare single gene variant/multigenic CNV
0
30
5
Zhu JW , et al. 2019
Edit
GEN664
TRIO
Trio Rho guanine nucleotide exchange factor
5p15.2
Rare Single Gene variant
4
198
60
De Rubeis S , et al. 2014
Edit
GEN354
TRIP12
Thyroid hormone receptor interactor 12
2q36.3
Rare single gene variant
5
Yes
148
49
Chahrour MH , et al. 2012
Edit
GEN1366
TRPC5
transient receptor potential cation channel subfamily C member 5
Xq23
Rare single gene variant
2
24
10
de Ligt J , et al. 2012
Edit
GEN666
TRPC6
Transient receptor potential cation channel, subfamily C, member 6
11q22.1
Rare single gene variant/functional
3
19
6
Griesi-Oliveira K , et al. 2014
Edit
GEN255
TSC1
tuberous sclerosis 1
9q34.13
Rare Single Gene variant
4
56
41
Smalley SL 1998
Edit
GEN256
TSC2
tuberous sclerosis 2
16p13.3
Genetic Association
5
134
71
Smalley SL 1998
Edit
GEN1370
TSHZ1
teashirt zinc finger homeobox 1
18q22.3
Syndromic
3
9
6
C Yuen RK et al. 2017
Edit
GEN850
TSHZ3
teashirt zinc finger homeobox 3
19
Rare single gene variant
2
12
8
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
7
6
Lee PC , et al. 2013
Edit
GEN1360
UBAP2L
ubiquitin associated protein 2 like
1q21.3
Rare single gene variant
3
15
5
Iossifov I et al. 2014
Edit
GEN262
UBE3A
ubiquitin protein ligase E3A
15q11.2
Genetic Association
4
52
58
Nurmi EL , et al. 2001
Edit
GEN351
UBE3B
ubiquitin protein ligase E3B
12q24.11
Rare single gene variant
2
Yes
30
11
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
3
13
10
Nguyen LS , et al. 2013
Edit
GEN364
UPF3B
UPF3B, regulator of nonsense mediated mRNA decay
Xq24
Syndromic
3
33
20
Tarpey PS , et al. 2007
Edit
GEN758
USP7
Ubiquitin specific peptidase 7 (herpes virus-associated)
16p13.2
Rare single gene variant
2
38
18
Hao YH , et al. 2015
Edit
GEN1418
VCP
valosin containing protein
9p13.3
Rare single gene variant
3
17
7
Annelise Y Mah-Som et al. 2023
Edit
GEN787
VLDLR
Very low density lipoprotein receptor
9p24.2
Functional
2
10
7
Fatemi SH , et al. 2005
Edit
GEN978
VRK3
vaccinia related kinase 3
19q13.33
Functional
1
2
Kang MS , et al. 2017
Edit
GEN635
WDFY3
WD repeat and FYVE domain containing 3
4q21.23
Rare Single Gene variant
4
83
28
Iossifov I , et al. 2012
Edit
GEN851
WWOX
WW domain containing oxidoreductase
16
Rare single gene variant
2
45
18
Leppa VM , et al. 2016
Edit
GEN1387
ZBTB18
zinc finger and BTB domain containing 18
1q44
Rare single gene variant
3
34
15
Feliciano P et al. 2019
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
10
10p14
Deletion-Duplication
14
10
10p14-p12.31
Deletion-Duplication
1
10
10p15.1
Deletion-Duplication
14
10
10p15.1-p12.33
Deletion
1
10
10p15.1-p13
Deletion
1
10
10p15.1-p14
Deletion
4
10
10p15.2-p15.1
Duplication
1
10
10p15.3-p11.23
Duplication
2
10
10p15.3-p12.2
Duplication
1
10
10p15.3-p12.31
Duplication
2
10
10p15.3-p12.33
Duplication
1
10
10p15.3-p13
Deletion
3
10
10p15.3-p14
Deletion-Duplication
4
10
10p15.3-p15.1
Deletion
4
10
10q21.1-q22.2
Deletion
1
10
10q21.1-q26.13
Duplication
1
10
10q21.2-q22.2
Deletion
1
10
10q21.3-q22.1
Duplication
2
10
10q22.1
Deletion
9
10
10q22.1-q22.2
Deletion
1
10
10q22.1-q22.3
Deletion
1
10
10q22.2
Deletion-Duplication
11
10
10q22.2-q22.3
Deletion
2
10
10q22.3
Deletion-Duplication
16
10
10q22.3-q23.2
Deletion-Duplication
6
10
10q23.1
Deletion-Duplication
25
10
10q23.1-q23.31
Deletion
2
10
10q23.2
Deletion
10
10
10q23.2-q23.31
Deletion
2
10
10q23.31
Deletion
8
10
10q23.31-q26.3
Duplication
1
10
10q23.33
Deletion-Duplication
15
10
10q23.33-q24.2
Deletion
1
10
10q23.33-q24.32
Deletion
1
10
10q23.33-q25.3
Duplication
1
10
10q24.2-q26.3
Duplication
2
10
10q24.33-q26.3
Duplication
1
10
10q25.1-q26.11
Deletion
1
10
10q25.1-q26.3
Duplication
2
10
10q25.2
Deletion-Duplication
7
10
10q25.2-q26.3
Duplication
1
10
10q25.2-qter
Duplication
1
10
10q25.3
Deletion-Duplication
13
10
10q26.11-q26.13
Duplication
1
10
10q26.11-q26.3
Deletion
5
10
10q26.12-q26.3
Deletion
3
10
10q26.13
Deletion-Duplication
10
10
10q26.13-q26.3
Deletion
6
10
10q26.2-q26.3
Deletion-Duplication
17
10
10q26.3
Deletion-Duplication
44
11
11p11.12
Deletion-Duplication
13
11
11p11.2
Deletion-Duplication
15
11
11p11.2-p11.12
Deletion-Duplication
5
11
11p11.2-q11
Duplication
1
11
11p12-p11.2
Deletion
2
11
11p13
Deletion-Duplication
29
11
11p13-p11.2
Deletion
2
11
11p13-p12
Deletion-Duplication
4
11
11p14.1
Deletion-Duplication
5
11
11p14.1-p11.2
Deletion
1
11
11p14.1-p12
Deletion
3
11
11p14.1-p13
Deletion
4
11
11p14.2-p12
Deletion
1
11
11p14.2-p13
Deletion
2
11
11p14.3-p11.2
Deletion
1
11
11p14.3-p12
Deletion
2
11
11p14.3-p13
Deletion
2
11
11p14.3-p14.1
Deletion
1
11
11p15.1
Deletion-Duplication
20
11
11p15.1-p11.2
Deletion
1
11
11p15.1-p12
Deletion
2
11
11p15.1-p13
Deletion
1
11
11p15.2
Duplication
11
11
11p15.5
Deletion-Duplication
24
11
11p15.5-p13
Duplication
1
11
11p15.5-p15.4
Duplication
3
11
11q12.2
Deletion-Duplication
7
11
11q13.1
Deletion
13
11
11q13.1-q13.2
Deletion-Duplication
1
11
11q13.2
Deletion-Duplication
20
11
11q13.2-q13.3
Deletion
1
11
11q13.2-q13.4
Deletion
3
11
11q13.2-q25
Duplication
1
11
11q13.3
Deletion
7
11
11q13.3-q13.4
Duplication
3
11
11q13.4
Deletion-Duplication
17
11
11q14.1-q22.2
Deletion
1
11
11q14.1-q22.3
Deletion
1
11
11q14.2
Deletion-Duplication
10
11
11q14.2-q14.3
Deletion
3
11
11q14.3
Deletion-Duplication
9
11
11q21-q22.3
Deletion
1
11
11q22.1
Deletion-Duplication
18
11
11q22.1-q25
Duplication
1
11
11q23.2
Deletion
3
11
11q23.2-q23.3
Duplication
2
11
11q23.3
Deletion-Duplication
19
11
11q23.3-q24.1
Duplication
1
11
11q23.3-q25
Deletion
10
11
11q24.1-q24.3
Duplication
1
11
11q24.1-q25
Deletion-Duplication
6
11
11q24.2
Deletion-Duplication
13
11
11q24.2-q24.3
Deletion
2
11
11q24.2-q25
Deletion
10
11
11q24.3
Deletion-Duplication
11
11
11q24.3-q25
Deletion
9
12
12p12.3
Deletion-Duplication
18
12
12p12.3-p11.22
Deletion
4
12
12p13.1
Deletion
13
12
12p13.1-p11.23
Deletion
1
12
12p13.1-p12.1
Deletion
1
12
12p13.1-p12.3
Deletion
1
12
12p13.2-p12.3
Deletion
2
12
12p13.2-p13.1
Deletion
4
12
12p13.31
Deletion-Duplication
27
12
12p13.33
Deletion-Duplication
37
12
12p13.33-p11.1
Duplication
5
12
12p13.33-p11.22
Deletion
1
12
12p13.33-p12.1
Duplication
2
12
12p13.33-p12.2
Duplication
1
12
12p13.33-p13.31
Duplication
4
12
12p13.33-p13.32
Deletion
9
12
12p13.33-q12
Duplication
1
12
12q11-q13.11
Duplication
1
12
12q12
Deletion-Duplication
21
12
12q12-q13.11
Deletion
5
12
12q12-q24.33
Duplication
1
12
12q13.2
Deletion
7
12
12q13.2-q14.1
Duplication
2
12
12q13.3-q14.2
Deletion
2
12
12q13.3-q14.3
Deletion
1
12
12q13.3-q15
Deletion
1
12
12q14.1
Deletion-Duplication
13
12
12q14.1-q14.2
Duplication
1
12
12q14.2
Deletion-Duplication
7
12
12q14.2-q15
Deletion
1
12
12q14.3
Deletion-Duplication
9
12
12q14.3-q15
Deletion
2
12
12q15-q21.1
Deletion
1
12
12q15-q21.2
Duplication
3
12
12q15-q21.31
Deletion
1
12
12q21.1
Deletion-Duplication
12
12
12q21.31-q21.33
Deletion
2
12
12q21.32
Deletion-Duplication
6
12
12q21.32-q22
Deletion
1
12
12q23.1
Deletion-Duplication
19
12
12q23.1-q24.11
Deletion
1
12
12q23.3
Deletion-Duplication
9
12
12q23.3-q24.12
Deletion
1
12
12q23.3-q24.13
Deletion
1
12
12q24.11
Deletion-Duplication
11
12
12q24.21-q24.33
Duplication
3
12
12q24.23
Deletion-Duplication
5
12
12q24.23-q24.31
Duplication
1
12
12q24.23-q24.33
Duplication
1
12
12q24.31
Deletion-Duplication
26
12
12q24.31-q24.33
Deletion-Duplication
2
13
13q11-q13.3
Duplication
1
13
13q11-q21.1
Deletion
1
13
13q11-q34
Duplication
1
13
13q12.11-q21.1
N/A
1
13
13q12.11-q21.2
Deletion
1
13
13q12.11-q34
Duplication
2
13
13q12.3-q21.33
Deletion
1
13
13q12.3-q31.1
Duplication
1
13
13q12.3-q31.3
Duplication
1
13
13q13.2
Deletion-Duplication
6
13
13q13.2-q13.3
Duplication
2
13
13q13.2-q34
Duplication
1
13
13q13.3
Deletion
13
13
13q13.3-q14.11
Deletion
1
13
13q13.3-q14.2
Deletion
1
13
13q13.3-q21.2
Deletion
1
13
13q14.11-q14.3
Deletion
1
13
13q14.11-q34
Duplication
1
13
13q14.12-q31.3
Deletion
1
13
13q14.13-q14.2
Duplication
2
13
13q14.2
Deletion-Duplication
13
13
13q14.2-q21.2
Deletion
1
13
13q21.1-q21.2
Deletion
1
13
13q21.1-q34
N/A
1
13
13q21.31-q31.3
Deletion
1
13
13q22.1-q34
Duplication
1
13
13q22.2-q31.3
Deletion
1
13
13q31.1-q32.1
Deletion
1
13
13q31.1-q33.2
Duplication
1
13
13q31.1-q34
Deletion-Duplication
2
13
13q31.2
Deletion-Duplication
7
14
14p13-q12
Duplication
1
14
14q11.2
Deletion-Duplication
52
14
14q11.2-q12
Duplication
4
14
14q11.2-q21.1
Duplication
1
14
14q11.2-q21.2
Deletion
2
14
14q11.2-q21.3
Deletion
1
14
14q12
Deletion-Duplication
23
14
14q12-q13.3
Deletion
1
14
14q12-q21.3
Duplication
1
14
14q13.1-q21.1
Deletion
1
14
14q13.3-q21.1
Deletion
2
14
14q21.1
Deletion-Duplication
13
14
14q21.2-q21.3
Deletion-Duplication
6
14
14q21.3
Deletion-Duplication
14
14
14q23.1-q23.3
Deletion
1
14
14q23.2
Deletion-Duplication
16
14
14q23.2-q23.3
Deletion
4
14
14q24.2-q32.2
Duplication
1
14
14q24.3
Deletion-Duplication
19
14
14q24.3-q31.1
Deletion
7
14
14q24.3-q32.33
Duplication
2
14
14q31.2-q32.33
Duplication
1
14
14q31.3-q32.33
Duplication
2
14
14q32.12-q32.33
Duplication
1
14
14q32.13-q32.33
Duplication
1
14
14q32.2-q32.31
Deletion
6
14
14q32.2-q32.32
Deletion
1
14
14q32.2-q32.33
Deletion
5
14
14q32.31
Deletion-Duplication
11
14
14q32.31-q32.32
Duplication
2
14
14q32.31-q32.33
Deletion-Duplication
4
15
15q11-q13
Duplication
10
15
15q11-q13.33
Duplication
1
15
15q11.1-q11.2
Duplication
7
15
15q11.1-q12
Duplication
4
15
15q11.1-q13.1
Duplication
9
15
15q11.1-q13.2
Duplication
3
15
15q11.1-q13.3
Duplication
5
15
15q11.1-q14
Deletion
1
15
15q11.2
Deletion-Duplication
124
15
15q11.2-q12
Duplication
10
15
15q11.2-q13.1
Duplication
89
15
15q11.2-q13.2
Duplication
10
15
15q11.2-q13.3
Duplication
21
15
15q11.2-q14
Duplication
3
15
15q12
Deletion-Duplication
12
15
15q12-q13.1
Duplication
5
15
15q12.1
Duplication
1
15
15q13
Duplication
1
15
15q13.1
Deletion-Duplication
14
15
15q13.1-q13.2
Deletion-Duplication
16
15
15q13.1-q13.3
Deletion
21
15
15q13.2-q13.3
Deletion-Duplication
58
15
15q13.3
Deletion-Duplication
80
15
15q21.1-q21.3
Deletion
2
15
15q21.2
Deletion-Duplication
10
15
15q21.2-q22.2
Deletion
1
15
15q21.2-q26.3
Duplication
1
15
15q21.3-q22.2
Deletion
7
15
15q21.3-q22.31
Deletion
1
15
15q22.2
Deletion-Duplication
11
15
15q23
Deletion-Duplication
13
15
15q23-q24.1
Deletion
9
15
15q23-q24.2
Deletion
3
15
15q23-q25.1
Deletion
1
15
15q24.1-q24.2
Deletion
12
15
15q24.2-q26.3
Duplication
1
15
15q24.3-q26.3
Duplication
1
15
15q25.1
Deletion-Duplication
7
15
15q25.2
Deletion-Duplication
15
15
15q25.2-q26.3
Duplication
2
15
15q26.1
Deletion-Duplication
30
15
15q26.1-q26.2
Duplication
4
15
15q26.1-q26.3
Duplication
3
16
16p11.2
Deletion-Duplication
151
16
16p12.1
Deletion-Duplication
20
16
16p12.1-p11.2
Duplication
7
16
16p12.1-q11.2
Deletion
1
16
16p12.1-q12.1
Deletion
1
16
16p12.2-p11.2
Duplication
16
16
16p13.11-p11.2
Duplication
1
16
16p13.2
Deletion-Duplication
44
16
16p13.2-p13.13
Deletion
4
16
16p13.3
Deletion-Duplication
73
16
16p13.3-p13.11
Duplication
2
16
16p13.3-p13.12
Duplication
3
16
16p13.3-p13.13
Deletion-Duplication
3
16
16p13.3-p13.2
Deletion
5
16
16q11.2-q12.1
Deletion-Duplication
3
16
16q12.1
Deletion-Duplication
10
16
16q12.1-q12.2
Deletion
2
16
16q21-q23.1
Duplication
2
16
16q21-q24.3
Duplication
1
16
16q22.1-q23.1
Deletion
2
16
16q22.1-q24.3
Duplication
2
16
16q22.2-q24.1
Duplication
1
16
16q22.3-q23.3
Deletion
1
16
16q23.1
Deletion-Duplication
49
16
16q23.1-q23.2
Deletion
3
16
16q23.1-q24.2
Deletion
1
16
16q23.1-q24.3
Duplication
6
16
16q23.2-q24.3
Duplication
1
16
16q23.3-q24.3
Duplication
1
16
16q24.1-q24.2
Deletion
2
16
16q24.1-q24.3
Deletion-Duplication
3
16
16q24.2
Deletion-Duplication
10
16
16q24.2-q24.3
Deletion
12
16
16q24.3
Deletion-Duplication
36
17
17p11.2
Deletion-Duplication
67
17
17p12
Deletion-Duplication
36
17
17p12-p11.2
Duplication
8
17
17p12-q11.1
Duplication
1
17
17p12-q11.2
Duplication
1
17
17p13.1
Deletion-Duplication
29
17
17p13.1-p11.2
Duplication
3
17
17p13.2
Deletion-Duplication
20
17
17p13.2-p13.1
Duplication
8
17
17p13.3
Deletion-Duplication
57
17
17p13.3-p11.2
Duplication
1
17
17p13.3-p12
Duplication
4
17
17p13.3-p13.1
Deletion-Duplication
5
17
17p13.3-p13.2
Duplication
13
17
17p13.3-q11.1
Duplication
1
17
17pter-p13.1
Duplication
1
17
17q11.1
Deletion
6
17
17q11.1-q11.2
Duplication
3
17
17q11.1-q12
Duplication
2
17
17q11.2
Deletion-Duplication
30
17
17q11.2-q12
Deletion
2
17
17q12
Deletion-Duplication
78
17
17q12-q21.31
Duplication
1
17
17q12-q25.3
Duplication
1
17
17q21.1
Deletion
2
17
17q21.2
Deletion-Duplication
7
17
17q21.2-q21.32
Duplication
1
17
17q21.31-q21.33
Duplication
1
17
17q21.32-q21.33
Deletion
2
17
17q21.32-q24.3
Duplication
1
17
17q21.33
Deletion-Duplication
8
17
17q21.33-q22
Deletion
1
17
17q21.33-q24.2
Duplication
1
17
17q22-q23.1
Duplication
2
17
17q23.1
Deletion
2
17
17q23.2-q25.3
Duplication
1
17
17q23.3-q24.3
Duplication
1
17
17q24.1-q24.3
Deletion
1
17
17q24.3
Deletion-Duplication
7
17
17q24.3-q25.3
Duplication
1
17
17q25.1-q25.2
Duplication
1
17
17q25.1-q25.3
Duplication
3
17
17q25.2
Deletion-Duplication
5
17
17q25.3
Deletion-Duplication
29
18
18p11.31
Deletion-Duplication
14
18
18p11.31-p11.21
Duplication
2
18
18p11.31-p11.23
Duplication
11
18
18p11.32-p11.21
Duplication
13
18
18p11.32-p11.22
Deletion
2
18
18p11.32-p11.23
Deletion
3
18
18p11.32-p11.31
Deletion-Duplication
12
18
18p11.32-q11.1
Duplication
4
18
18p11.32-q23
Duplication
2
18
18q11.1-q23
Duplication
2
18
18q11.2-q12.2
Deletion
1
18
18q12.1-q12.2
Deletion
3
18
18q12.1-q12.3
Deletion-Duplication
1
18
18q12.1-q22.1
Duplication
1
18
18q12.2
Deletion-Duplication
19
18
18q12.2-q21.1
Deletion
2
18
18q12.3-q21.1
N/A
3
18
18q21.1
Deletion-Duplication
16
18
18q21.1-q23
Duplication
2
18
18q21.2
Deletion-Duplication
14
18
18q21.2-q21.31
Deletion
2
18
18q21.2-q22.1
Deletion
2
18
18q21.2-q23
Deletion
6
18
18q21.31
Deletion-Duplication
10
18
18q21.31-q23
Deletion
6
18
18q21.32-q23
Deletion
9
18
18q21.33-q23
Deletion-Duplication
5
18
18q22.1-q23
Deletion-Duplication
8
18
18q22.2-q23
Deletion
4
18
18q22.2-qter
Deletion
1
18
18q22.3
Deletion-Duplication
19
18
18q22.3-q23
Deletion-Duplication
8
18
18q22.3-qter
Deletion
1
19
19p12-q13.11
Duplication
1
19
19p13.11-q13.11
Duplication
1
19
19p13.12
Deletion-Duplication
18
19
19p13.12-p12
Duplication
1
19
19p13.12-p13.11
Deletion
5
19
19p13.12-q12
Duplication
1
19
19p13.13-p12
Duplication
1
19
19p13.13-p13.11
Deletion
2
19
19p13.13-p13.12
Deletion
2
19
19p13.2-p13.11
Duplication
3
19
19p13.2-p13.12
Deletion-Duplication
6
19
19p13.3
Deletion-Duplication
37
19
19p13.3-p13.11
Duplication
1
19
19p13.3-p13.12
Duplication
1
19
19p13.3-p13.2
Deletion-Duplication
10
19
19q12
Deletion-Duplication
11
19
19q12-q13.11
Duplication
4
19
19q13.12
Deletion
13
19
19q13.12-q13.2
Deletion
1
19
19q13.12-q13.31
Duplication
1
19
19q13.2
Deletion-Duplication
19
19
19q13.2-q13.31
Deletion
6
19
19q13.3
Deletion
2
19
19q13.31
Deletion-Duplication
19
19
19q13.32
Deletion-Duplication
14
19
19q13.32-q13.43
Duplication
1
19
19q13.33
Deletion-Duplication
20
19
19q13.33-q13.41
Deletion-Duplication
4
19
19q13.33-q13.43
Duplication
1
19
19q13.42
Deletion-Duplication
30
19
19q13.42-q13.43
Duplication
6
1
1p13.2
Deletion-Duplication
13
1
1p13.2-p11.2
Duplication
1
1
1p13.3
Deletion-Duplication
24
1
1p13.3-p12
Duplication
1
1
1p13.3-p13.2
Duplication
2
1
1p21.1
Deletion-Duplication
23
1
1p21.1-p13.3
Deletion
2
1
1p21.2-p13.2
Duplication
2
1
1p21.3
Deletion-Duplication
16
1
1p21.3-p13.3
Deletion
3
1
1p21.3-p21.1
Deletion
1
1
1p21.3-p21.2
Deletion
8
1
1p22.1-p13.3
Deletion
1
1
1p22.1-p21.1
Deletion
1
1
1p22.1-p21.2
Deletion
1
1
1p22.1-p21.3
Deletion
4
1
1p31.1
Deletion-Duplication
33
1
1p31.1-p13.3
Duplication
1
1
1p31.2-p22.3
Deletion
1
1
1p31.3-p31.1
Deletion
3
1
1p32.1-p31.1
Deletion
1
1
1p32.2
Deletion-Duplication
6
1
1p32.2-p31.1
Deletion
1
1
1p32.3-p31.1
Duplication
1
1
1p32.3-p31.3
Deletion
1
1
1p33-p31.3
Duplication
1
1
1p36.12
Deletion-Duplication
10
1
1p36.22
Deletion-Duplication
15
1
1p36.22-p36.12
Deletion
1
1
1p36.22-p36.13
Deletion
2
1
1p36.22-p36.21
Duplication
5
1
1p36.23-p36.13
Deletion
1
1
1p36.23-p36.21
Deletion
1
1
1p36.31
Deletion-Duplication
15
1
1p36.31-p36.13
Duplication
1
1
1p36.31-p36.21
Duplication
1
1
1p36.31-p36.22
Deletion
2
1
1p36.32
Deletion-Duplication
15
1
1p36.32-p36.13
Deletion
2
1
1p36.32-p36.21
Deletion
2
1
1p36.32-p36.22
Deletion
3
1
1p36.32-p36.23
Deletion
1
1
1p36.32-p36.31
Deletion-Duplication
1
1
1p36.33
Deletion-Duplication
26
1
1p36.33-p36.13
Duplication
1
1
1p36.33-p36.22
Deletion
5
1
1p36.33-p36.23
Deletion
6
1
1p36.33-p36.31
Deletion
5
1
1p36.33-p36.32
Deletion
19
1
1q21.1-q21.2
Duplication
50
1
1q21.1-q21.3
Duplication
1
1
1q21.1-q22
Duplication
1
1
1q21.2
Deletion-Duplication
18
1
1q21.2-q21.3
Duplication
2
1
1q21.3
Deletion-Duplication
23
1
1q21.3-q22
Deletion
3
1
1q21.3-q23.1
Duplication
1
1
1q22
Deletion-Duplication
11
1
1q23.1-q23.3
Duplication
1
1
1q23.1-q25.1
Duplication
1
1
1q23.2-q24.1
Deletion
1
1
1q23.3-q25.2
Duplication
1
1
1q24.1-q25.1
Deletion
2
1
1q24.2-q31.2
Deletion
3
1
1q24.3-q25.2
Deletion
2
1
1q25.1
Deletion-Duplication
14
1
1q25.1-q25.2
Duplication
1
1
1q25.1-q31.1
Deletion
3
1
1q25.2-q32.1
Deletion
1
1
1q25.3
Deletion-Duplication
18
1
1q25.3-q31.1
Deletion
3
1
1q31.1
Deletion-Duplication
19
1
1q31.1-q31.2
Duplication
2
1
1q31.1-q42.11
Duplication
1
1
1q31.3
Deletion-Duplication
17
1
1q32.1
Deletion-Duplication
20
1
1q32.2-q44
Duplication
1
1
1q41-q43
Duplication
1
1
1q41-q44
Duplication
3
1
1q42.11-q44
Duplication
1
1
1q42.13-q42.2
Deletion
8
1
1q42.13-q44
Deletion
2
1
1q42.2
Deletion-Duplication
20
1
1q42.2-q44
Deletion
2
1
1q42.3-q44
Duplication
1
1
1q43-q44
Duplication
12
1
1q44
Deletion-Duplication
59
20
20p13
Deletion-Duplication
33
20
20p13-p11.21
Duplication
1
20
20p13-p11.22
Duplication
1
20
20p13-p11.23
Duplication
1
20
20p13-p12.1
Duplication
3
20
20p13-p12.3
Duplication
1
20
20q13.12-q13.33
Duplication
1
20
20q13.13
Deletion-Duplication
14
20
20q13.13-q13.2
Deletion-Duplication
1
20
20q13.2-q13.33
Duplication
1
20
20q13.31-q13.33
Duplication
1
20
20q13.33
Deletion-Duplication
33
21
21p13-q22.3
Duplication
3
21
21q11.2-q21.3
Deletion
2
21
21q11.2-q22.11
Deletion
1
21
21q11.2-q22.3
Duplication
12
21
21q21.1-q21.3
Deletion
1
21
21q21.1-q22.3
Duplication
2
21
21q21.2-q21.3
Deletion
2
21
21q21.3
Deletion-Duplication
16
21
21q22.11-q22.3
Deletion-Duplication
1
21
21q22.12-q22.13
Deletion
1
21
21q22.12-q22.2
Duplication
4
21
21q22.12-q22.3
Deletion
2
21
21q22.13
Deletion-Duplication
10
21
21q22.13-q22.2
Deletion
3
21
21q22.13-q22.3
Deletion
3
21
21q22.2
Deletion-Duplication
8
21
21q22.2-q22.3
Deletion
5
21
21q22.3
Deletion-Duplication
43
22
22q11.1-q11.21
Duplication
12
22
22q11.1-q11.23
Duplication
1
22
22q11.2
Duplication
7
22
22q11.2-q22.3
Duplication
1
22
22q11.21
Deletion-Duplication
118
22
22q11.21-q11.22
Deletion-Duplication
15
22
22q11.21-q11.23
Deletion
9
22
22q11.21-q12.3
Duplication
2
22
22q11.22
Deletion-Duplication
26
22
22q11.22-q11.23
Duplication
15
22
22q11.23
Deletion-Duplication
33
22
22q11.23-q13.2
Duplication
1
22
22q12.1-q12.3
Duplication
2
22
22q12.3
Deletion-Duplication
23
22
22q12.3-q13.1
Deletion
4
22
22q12.3-q13.33
Duplication
1
22
22q13.1
Deletion-Duplication
27
22
22q13.1-q13.3
Duplication
1
22
22q13.1-q13.33
Duplication
3
22
22q13.2
Deletion-Duplication
16
22
22q13.2-q13.31
Duplication
1
22
22q13.2-q13.33
Deletion-Duplication
13
22
22q13.3
Deletion
2
22
22q13.31
Deletion-Duplication
16
22
22q13.31-q13.33
Deletion-Duplication
37
22
22q13.32-q13.33
Duplication
26
22
22q13.33
Deletion-Duplication
77
2
2p11.2-q12.1
Duplication
1
2
2p16.1
Deletion-Duplication
22
2
2p16.1-p14
Deletion
1
2
2p16.1-p15
Deletion
10
2
2p16.2
Deletion-Duplication
14
2
2p16.3
Deletion-Duplication
89
2
2p16.3-p16.2
Deletion-Duplication
3
2
2p21-p16.3
Deletion
5
2
2p22.1-p16.1
Duplication
1
2
2p22.3
Deletion-Duplication
37
2
2p23.1-p22.3
N/A
3
2
2p23.3
Deletion
14
2
2p23.3-p16.3
Duplication
1
2
2p25.3
Deletion-Duplication
49
2
2p25.3-p16.1
Duplication
1
2
2p25.3-p23.1
Duplication
1
2
2p25.3-p24.3
Duplication
1
2
2p25.3-p25.1
Duplication
4
2
2p25.3-p25.2
Duplication
5
2
2q11.1-q12.1
Duplication
1
2
2q11.2
Deletion-Duplication
24
2
2q11.2-q12.3
Duplication
1
2
2q11.2-q13
Duplication
4
2
2q14.3-q24.3
Duplication
1
2
2q22.1-q24.3
Duplication
1
2
2q23.1-q24.3
Deletion
1
2
2q23.3-q24.3
Deletion
1
2
2q24.1-q24.2
Deletion-Duplication
7
2
2q24.1-q24.3
Deletion
3
2
2q24.1-q31.1
Deletion
1
2
2q24.2
Deletion-Duplication
19
2
2q24.2-q24.3
Deletion
5
2
2q24.2-q31.1
Deletion
1
2
2q24.3
Deletion
21
2
2q24.3-q31.1
Deletion
3
2
2q24.3-q32.1
Deletion
1
2
2q31.1
Deletion-Duplication
16
2
2q31.1-q31.2
Deletion
5
2
2q31.1-q32.1
Deletion
1
2
2q31.1-q33.1
Deletion
2
2
2q31.1-q33.2
Deletion
1
2
2q31.2-q32.1
Deletion
1
2
2q31.2-q33.1
Deletion
1
2
2q31.3-q36.1
Duplication
1
2
2q32.1
Deletion-Duplication
27
2
2q32.1-q33.3
Duplication
2
2
2q32.2-q37.3
Duplication
1
2
2q32.3-q37.3
Duplication
2
2
2q33.1-q34
Deletion
3
2
2q33.2
Deletion
3
2
2q33.2-q33.3
Deletion
1
2
2q33.2-q35
Deletion
1
2
2q33.3
Deletion-Duplication
10
2
2q33.3-q34
Deletion
3
2
2q34
Deletion-Duplication
25
2
2q34-q35
Duplication
3
2
2q34-q36.3
Duplication
1
2
2q35-q36.3
Deletion-Duplication
1
2
2q36.1-q36.2
Deletion
3
2
2q36.1-q37.1
Duplication
2
2
2q36.1-q37.3
Duplication
1
2
2q36.2
Deletion
5
2
2q36.3
Deletion-Duplication
22
2
2q36.3-q37.2
Deletion
1
2
2q36.3-q37.3
Deletion-Duplication
2
2
2q37.1
Deletion-Duplication
20
2
2q37.1-q37.3
Deletion
13
2
2q37.2-q37.3
Deletion
11
2
2q37.3
Deletion-Duplication
59
3
3p13
Deletion
14
3
3p13-p12.3
Deletion
1
3
3p14.1
Deletion-Duplication
21
3
3p14.1-p12.3
Deletion
2
3
3p14.1-p13
Deletion
11
3
3p14.2
Deletion-Duplication
29
3
3p14.2-p12.3
Deletion
1
3
3p14.2-p14.1
Deletion
8
3
3p14.3
Deletion-Duplication
15
3
3p14.3-p14.1
Deletion
1
3
3p21.1
Deletion
8
3
3p21.1-p14.1
Deletion
2
3
3p21.1-p14.3
Deletion
2
3
3p21.31
Deletion-Duplication
17
3
3p21.31-p14.3
Deletion
2
3
3p21.31-p21.1
Duplication
1
3
3p22.1
Deletion
14
3
3p25.2
Deletion
6
3
3p25.3
Deletion-Duplication
22
3
3p25.3-p22.2
Duplication
1
3
3p25.3-p25.2
Deletion
4
3
3p26.1-p25.2
Deletion
1
3
3p26.1-p25.3
Duplication
4
3
3p26.2
Deletion-Duplication
17
3
3p26.2-p26.1
N/A
2
3
3p26.3
Deletion-Duplication
64
3
3p26.3-p22.2
Duplication
1
3
3p26.3-p22.3
Duplication
1
3
3p26.3-p24.1
Duplication
1
3
3p26.3-p24.3
Duplication
2
3
3p26.3-p25.3
Deletion
3
3
3p26.3-p26.1
Deletion
6
3
3p26.3-p26.2
Duplication
16
3
3pter-p25.3
Duplication
1
3
3q11.1-q12.1
Duplication
1
3
3q11.2
Deletion-Duplication
9
3
3q11.2-q12.1
Duplication
2
3
3q11.2-q21.1
Deletion
1
3
3q12.3-q13.31
Deletion
2
3
3q12.3-q13.33
Deletion
1
3
3q13.11-q13.31
Deletion-Duplication
2
3
3q13.11-q13.33
Deletion
1
3
3q13.11-q21.3
Deletion
1
3
3q13.12-q13.31
Deletion
2
3
3q13.13-q13.31
Deletion
2
3
3q13.13-q13.33
Deletion
1
3
3q13.2-q13.31
Deletion
8
3
3q13.2-q13.32
Deletion
1
3
3q13.31
Deletion-Duplication
18
3
3q13.32-q21.2
Deletion
2
3
3q22.2-q24
Deletion
1
3
3q22.3-q29
Duplication
1
3
3q23-q24
Deletion
1
3
3q24
Deletion-Duplication
13
3
3q24-q26.32
Duplication
1
3
3q24-q29
Duplication
3
3
3q25.32-q26.31
Duplication
2
3
3q25.32-q29
Duplication
1
3
3q26.1-q26.33
Duplication
1
3
3q26.1-q29
Duplication
3
3
3q26.31
Deletion-Duplication
21
3
3q26.31-q26.32
Deletion
3
3
3q26.31-qter
Duplication
1
3
3q26.32-q29
Duplication
3
3
3q26.33-q27.1
Deletion
1
3
3q26.33-q28
Deletion
2
3
3q27.1
Deletion
8
3
3q27.2-q29
Deletion
4
3
3q27.3-q29
Deletion
6
3
3q28-q29
Duplication
5
3
3q29
Deletion-Duplication
72
4
4p12-p11
Duplication
3
4
4p12-q12
Duplication
1
4
4p13-p11
Duplication
1
4
4p13-p12
Duplication
1
4
4p13-q13.1
Duplication
1
4
4p15.32
Deletion
7
4
4p15.33-p15.31
Deletion
1
4
4p15.33-p15.32
Duplication
2
4
4p16.1
Deletion-Duplication
26
4
4p16.2
Deletion
9
4
4p16.2-p16.1
Deletion
3
4
4p16.3-p14
Duplication
1
4
4p16.3-p15.1
Duplication
2
4
4p16.3-p15.2
Deletion-Duplication
3
4
4p16.3-p15.31
Duplication
2
4
4p16.3-p15.32
Deletion
3
4
4p16.3-p15.33
Deletion
2
4
4p16.3-p16.1
Duplication
18
4
4p16.34-p15.33
Deletion
1
4
4q11-q22.3
Duplication
1
4
4q12-q21.1
Deletion
1
4
4q13.1-q13.2
Duplication
4
4
4q13.1-q13.3
Deletion
1
4
4q13.1-q21.21
Deletion
1
4
4q13.2
Deletion-Duplication
30
4
4q13.2-q13.3
Deletion-Duplication
3
4
4q13.2-q21.23
Deletion
1
4
4q13.3-q22.1
Deletion
1
4
4q13.3-q22.3
Deletion
1
4
4q21.21-q22.1
Deletion
1
4
4q21.22-q21.3
Deletion
1
4
4q21.23
Deletion
5
4
4q22.1
Deletion-Duplication
27
4
4q22.1-q22.2
Duplication
4
4
4q22.2
Deletion-Duplication
15
4
4q22.2-q32.3
Duplication
1
4
4q22.3
Deletion-Duplication
13
4
4q22.3-q23
Deletion-Duplication
2
4
4q22.3-q28.3
Duplication
1
4
4q23
Deletion-Duplication
12
4
4q24
Deletion-Duplication
12
4
4q25
Deletion-Duplication
19
4
4q25-q26
Duplication
8
4
4q26
Deletion-Duplication
12
4
4q26-q31.22
Deletion
1
4
4q26-q35.2
Duplication
1
4
4q27-q35.2
Duplication
1
4
4q28.2-q28.3
Duplication
2
4
4q28.2-q31.21
Deletion
1
4
4q28.3
Deletion-Duplication
19
4
4q28.3-q31.21
Deletion
2
4
4q31.1
Deletion-Duplication
7
4
4q31.1-q31.21
Duplication
1
4
4q31.21-q31.3
Duplication
1
4
4q31.21-q33
Duplication
1
4
4q31.22-q31.3
Deletion
1
4
4q31.23
Deletion-Duplication
9
4
4q31.23-q34.1
Duplication
1
4
4q31.23-q35.2
Duplication
3
4
4q31.3-q33
Deletion
1
4
4q32.1
Deletion-Duplication
17
4
4q32.1-q32.2
Duplication
1
5
5p12
Deletion-Duplication
10
5
5p12-p11
Deletion-Duplication
6
5
5p13.1-p11
Duplication
1
5
5p13.2-p12
Duplication
1
5
5p13.2-q11.1
Duplication
1
5
5p13.2-q12.1
Duplication
1
5
5p13.3-q11.2
Duplication
1
5
5p14.1-q11.1
Duplication
1
5
5p15.2
Deletion-Duplication
38
5
5p15.2-p14.3
Deletion
1
5
5p15.2-p15.1
Duplication
4
5
5p15.31
Deletion-Duplication
10
5
5p15.31-p15.2
Deletion
4
5
5p15.32-p14.3
Duplication
2
5
5p15.33
Deletion-Duplication
37
5
5p15.33-p12
Duplication
1
5
5p15.33-p13.2
Duplication
2
5
5p15.33-p13.3
Deletion
1
5
5p15.33-p14.1
Deletion
3
5
5p15.33-p14.3
Deletion
4
5
5p15.33-p15.1
Deletion
4
5
5p15.33-p15.2
Deletion
11
5
5p15.33-p15.31
Deletion
4
5
5p15.33-p15.32
Deletion
5
5
5q11.2-q13.2
Deletion
1
5
5q12.1-q35.3
Duplication
1
5
5q12.3
Deletion-Duplication
10
5
5q12.3-q13.2
Deletion
1
5
5q13.2
Deletion-Duplication
16
5
5q13.3-q14.1
Duplication
4
5
5q13.3-q22.1
Duplication
1
5
5q14.1
Deletion-Duplication
19
5
5q14.1-q14.2
Duplication
1
5
5q14.2-q14.3
Deletion
1
5
5q14.3
Deletion-Duplication
21
5
5q14.3-q15
Deletion-Duplication
3
5
5q14.3-q21.1
Deletion
1
5
5q14.3-q21.2
Deletion
1
5
5q14.3-q21.3
Deletion
2
5
5q15
Deletion-Duplication
19
5
5q15-q22.3
Duplication
1
5
5q21.1-q22.2
Deletion
1
5
5q21.1-q23.3
Deletion
1
5
5q21.3-q22.2
Deletion
2
5
5q21.3-q33.2
Deletion
1
5
5q22.2
Deletion-Duplication
14
5
5q23.2-q31.1
Deletion
2
5
5q23.3-q33.2
Duplication
1
5
5q31.1
Deletion-Duplication
9
5
5q31.1-q31.2
Deletion
2
5
5q31.2-q32
Deletion
1
5
5q32
Deletion-Duplication
12
5
5q33.1-q35.3
Duplication
1
5
5q33.2-q34
Deletion
1
5
5q33.3-q35.1
Deletion
1
5
5q33.3-q35.3
Duplication
1
5
5q34
Deletion-Duplication
8
5
5q35.1-q35.3
Duplication
2
5
5q35.2
Deletion-Duplication
15
5
5q35.2-q35.3
Duplication
14
6
6p21.1
Deletion-Duplication
12
6
6p21.2
Deletion-Duplication
10
6
6p21.2-p12.3
Deletion
2
6
6p21.2-p21.1
Deletion
1
6
6p21.32
Deletion-Duplication
27
6
6p22.1
Deletion-Duplication
20
6
6p22.1-p21.33
Duplication
2
6
6p22.2
Deletion-Duplication
11
6
6p22.3
Deletion-Duplication
29
6
6p22.3-p21.33
Deletion
1
6
6p25.3-p21.33
Deletion
1
6
6q11.1-q14.1
Deletion
2
6
6q12-q13
Duplication
4
6
6q12-q14.1
Deletion
2
6
6q12-q14.3
Deletion
1
6
6q12-q16.1
Deletion
1
6
6q13
Deletion
10
6
6q13-q14.1
Deletion
6
6
6q13-q14.2
Deletion
1
6
6q13-q16.1
Deletion
1
6
6q14.1
Deletion-Duplication
27
6
6q14.1-q16.3
Deletion
1
6
6q15-q16.3
Deletion
1
6
6q16.1-q16.2
Deletion
2
6
6q16.1-q16.3
Deletion
5
6
6q16.1-q21
Deletion
1
6
6q16.1-q22.31
Deletion
1
6
6q16.2-q16.3
Deletion
1
6
6q16.3
Deletion-Duplication
16
6
6q16.3-q21
Deletion
2
6
6q21-q22.31
Deletion
3
6
6q21-q22.33
Deletion
1
6
6q21-q23.2
Deletion
1
6
6q22.1-q22.31
Deletion
1
6
6q22.1-q22.32
N/A
1
6
6q22.1-q22.33
Deletion
1
6
6q22.31
Deletion-Duplication
24
6
6q23.2-q23.3
Deletion
1
6
6q23.3
Deletion-Duplication
9
6
6q24.1-q27
Duplication
1
6
6q24.3-q27
Duplication
1
6
6q25.1-q25.3
Deletion
1
6
6q25.2
Deletion-Duplication
7
6
6q25.2-q25.3
Deletion
5
6
6q25.2-q27
Deletion
3
6
6q25.3
Deletion-Duplication
23
6
6q25.3-q26
Deletion
2
6
6q25.3-q27
Deletion-Duplication
4
6
6q26
Deletion-Duplication
50
6
6q26-q27
Deletion
9
7
7p12.3
Deletion-Duplication
15
7
7p14.3-q11.21
Duplication
1
7
7p15.1-p14.3
Duplication
1
7
7p15.2-p15.1
Deletion
2
7
7p15.3-p14.3
Deletion
1
7
7p22.3-p14.1
Duplication
1
7
7p22.3-p14.2
Duplication
1
7
7p22.3-q36.3
Deletion
2
7
7q11.21-q11.22
Deletion-Duplication
4
7
7q11.21-q21.11
Deletion
1
7
7q11.22
Deletion-Duplication
44
7
7q11.22-q11.23
Duplication
10
7
7q11.22-q21.11
Deletion
3
7
7q11.23
Deletion-Duplication
86
7
7q11.23-q21.11
Deletion
3
7
7q21.11
Deletion-Duplication
25
7
7q21.11-q21.3
Duplication
3
7
7q21.3-q22.1
Duplication
2
7
7q22.1
Deletion-Duplication
28
7
7q22.1-q22.2
Deletion-Duplication
1
7
7q22.1-q22.3
Deletion
1
7
7q22.1-q31.1
Deletion
1
7
7q22.2-q31.1
Deletion
1
7
7q22.3
Deletion
13
7
7q22.3-q31.1
Deletion
1
7
7q31.1
Deletion-Duplication
45
7
7q31.1-q31.2
Deletion
3
7
7q31.1-q31.31
Deletion
3
7
7q31.1-q31.33
Deletion
3
7
7q31.1-q32.2
Deletion
1
7
7q31.2
Deletion-Duplication
10
7
7q31.2-q31.31
Duplication
1
7
7q31.31-q33
Deletion
1
7
7q31.32
Deletion
10
7
7q31.33
Deletion-Duplication
19
7
7q31.33-q32.1
Duplication
4
7
7q31.33-q32.3
Deletion
2
7
7q32.1
Deletion-Duplication
10
7
7q32.1-q36.3
Duplication
1
7
7q32.3-q36.1
Deletion
1
7
7q32.3-q36.3
Duplication
1
7
7q33-q35
Deletion
2
7
7q33-q36.1
Deletion
1
7
7q33-q36.3
Duplication
2
7
7q34-q36.1
Deletion
2
7
7q34-q36.3
Deletion
6
7
7q35
Deletion-Duplication
51
7
7q35-q36.1
Deletion-Duplication
5
7
7q35-q36.3
Deletion
2
7
7q36.1
Deletion-Duplication
34
7
7q36.1-q36.2
Duplication
10
7
7q36.1-q36.3
Deletion
8
7
7q36.2
Deletion-Duplication
27
7
7q36.2-q36.3
Deletion
3
7
7q36.3
Deletion-Duplication
31
8
8p11.1-q11.21
Duplication
1
8
8p11.21-q11.21
Duplication
1
8
8p11.21-q11.23
Duplication
1
8
8p11.22-q11.21
Duplication
2
8
8p11.22-q11.23
Duplication
2
8
8p11.23-q11.21
Duplication
1
8
8p12
Deletion-Duplication
14
8
8p12-p11.21
Deletion-Duplication
2
8
8p12-q13.1
Duplication
1
8
8p13.1
Deletion
1
8
8p21.1-q11.21
Duplication
1
8
8p21.2-p12
Deletion
2
8
8p21.2-q11.21
Duplication
1
8
8p21.3-p11.1
Duplication
1
8
8p22-q11.21
Duplication
1
8
8p23.1
Deletion-Duplication
49
8
8p23.1-p11.1
Duplication
5
8
8p23.1-p11.21
Duplication
3
8
8p23.1-p12
Duplication
6
8
8p23.2-p23.1
Deletion-Duplication
11
8
8p23.3
Deletion-Duplication
37
8
8p23.3-p11.1
Duplication
1
8
8p23.3-p12
Duplication
1
8
8p23.3-p21.1
Deletion
3
8
8p23.3-p22
Duplication
6
8
8p23.3-p23.1
Deletion
30
8
8p23.3-p23.2
Duplication
14
8
8p23.3-q24.3
Duplication
1
8
8pter-p23.1
Deletion
1
8
8q11.1-q11.21
Duplication
3
8
8q11.21
Duplication
10
8
8q12.1-q12.3
Deletion
1
8
8q12.1-q21.12
Duplication
1
8
8q12.2
Deletion
2
8
8q22.1-q24.3
Duplication
1
8
8q23.1-q23.2
Duplication
2
8
8q23.1-q24.12
Deletion
2
8
8q23.3-q24.11
Deletion
3
8
8q23.3-q24.21
Deletion
1
8
8q23.3-q24.3
Duplication
4
8
8q24.11
Deletion
4
8
8q24.11-q24.13
Deletion
2
9
9p13.3
Deletion-Duplication
12
9
9p13.3-p13.1
Deletion
2
9
9p13.3-q21.31
Duplication
1
9
9p21.1-p13.1
Duplication
2
9
9p22.3-q12
N/A
1
9
9p23
Deletion-Duplication
29
9
9p23-p21.1
Duplication
1
9
9p23-p22.2
Deletion
3
9
9p23-p22.3
Deletion
5
9
9p24
Deletion
2
9
9p24.1
Deletion-Duplication
32
9
9p24.1-p23
Duplication
3
9
9p24.2
Deletion-Duplication
15
9
9p24.2-p24.1
Duplication
3
9
9p24.3-p13.1
Duplication
8
9
9p24.3-p13.3
Duplication
3
9
9p24.3-p21.3
Duplication
3
9
9p24.3-p22.1
Duplication
4
9
9p24.3-p22.2
Deletion
3
9
9p24.3-p22.3
N/A
6
9
9p24.3-p23
Deletion
12
9
9p24.3-p24.1
Deletion
10
9
9p24.3-p24.2
Deletion-Duplication
14
9
9p24.3-q21.11
Duplication
3
9
9p24.3-q34.3
Duplication
1
9
9q13-q21.13
Deletion
2
9
9q21.11-q21.13
Deletion
2
9
9q21.11-q21.2
Deletion
4
9
9q21.11-q21.31
Deletion
1
9
9q21.12-q21.2
Deletion
1
9
9q21.12-q21.31
Deletion
1
9
9q21.13
Deletion-Duplication
15
9
9q21.13-q21.2
Deletion
1
9
9q21.13-q21.31
Deletion
3
9
9q21.13-q21.32
N/A
2
9
9q21.2
Deletion
5
9
9q22.1-q32
Duplication
1
9
9q22.33-q33.1
Deletion
2
9
9q31.1-q31.3
N/A
2
9
9q31.2-q33.1
Deletion
1
9
9q31.3
Deletion-Duplication
7
9
9q32
Deletion-Duplication
21
9
9q33.1
Deletion-Duplication
31
9
9q33.1-q33.2
Duplication
1
9
9q33.1-q34.12
Deletion
1
9
9q33.2-q34.3
Duplication
1
9
9q33.3-q34.11
Deletion
4
9
9q33.3-q34.13
Duplication
1
9
9q34.11
Deletion-Duplication
16
9
9q34.11-q34.12
Deletion
1
9
9q34.11-q34.13
Deletion
1
9
9q34.11-q34.3
Duplication
1
9
9q34.12
Deletion
4
9
9q34.13
Deletion-Duplication
10
9
9q34.13-q34.2
N/A
2
9
9q34.13-q34.3
Duplication
2
9
9q34.2-q34.3
Deletion-Duplication
10
9
9q34.3
Deletion-Duplication
50
9
9q34.4
Deletion
1
X
Xp11.1-q28
Deletion
1
X
Xp11.21-q28
Duplication
1
X
Xp11.22
Deletion-Duplication
27
X
Xp11.22-p11.1
Duplication
1
X
Xp11.23
Deletion-Duplication
15
X
Xp11.23-p11.21
Duplication
1
X
Xp11.23-p11.22
Duplication
8
X
Xp11.3
Deletion-Duplication
19
X
Xp11.3-p11.21
Duplication
1
X
Xp11.4-p11.23
Deletion
1
X
Xp11.4-p11.3
Deletion
7
X
Xp21.1
Deletion-Duplication
34
X
Xp21.1-p11.4
Duplication
5
X
Xp21.2
Deletion
20
X
Xp21.2-p21.1
Deletion
4
X
Xp21.3
Deletion-Duplication
13
X
Xp21.3-p21.1
Deletion
2
X
Xp21.3-p21.2
Duplication
8
X
Xp22.11
Deletion-Duplication
19
X
Xp22.11-p11.4
Deletion
1
X
Xp22.11-p21.3
Duplication
2
X
Xp22.12
Deletion-Duplication
16
X
Xp22.13
Deletion
8
X
Xp22.2
Deletion-Duplication
21
X
Xp22.2-p22.13
Duplication
6
X
Xp22.31
Deletion-Duplication
45
X
Xp22.31-p22.2
Deletion-Duplication
2
X
Xp22.32
Deletion-Duplication
11
X
Xp22.32-p22.2
Duplication
2
X
Xp22.32-p22.31
Deletion-Duplication
3
X
Xp22.33-p11.1
Deletion
3
X
Xp22.33-p11.21
Deletion
4
X
Xp22.33-p11.22
Deletion-Duplication
1
X
Xp22.33-p11.23
Deletion
1
X
Xp22.33-p11.3
Duplication
1
X
Xp22.33-p21.3
Duplication
2
X
Xp22.33-p22.11
Deletion
4
X
Xp22.33-p22.12
Deletion
1
X
Xp22.33-p22.2
Duplication
6
X
Xp22.33-p22.31
Deletion
8
X
Xp22.33-p22.32
Duplication
5
X
Xp22.33-q22.1
Deletion
1
X
Xp22.33-q28
Deletion-Duplication
22
X
Xq11.1-q13.1
Duplication
2
X
Xq11.1-q28
Deletion
2
X
Xq11.2-q13.1
Duplication
1
X
Xq12
Deletion-Duplication
13
X
Xq12-q13.1
Duplication
2
X
Xq12-q13.3
Duplication
2
X
Xq12-q21.1
Duplication
1
X
Xq13.1
Deletion-Duplication
16
X
Xq13.1-q21.1
Duplication
1
X
Xq13.1-q27.1
Duplication
1
X
Xq13.2
Duplication
8
X
Xq13.2-q13.3
Duplication
5
X
Xq13.2-q21.1
Duplication
1
X
Xq13.3
Deletion
12
X
Xq21.1
Deletion-Duplication
18
X
Xq21.1-q22.3
Deletion
1
X
Xq21.1-q25
Duplication
1
X
Xq21.2-q24
Duplication
1
X
Xq21.31-q22.3
Duplication
1
X
Xq21.33-q22.1
Deletion
2
X
Xq22.1
Duplication
9
X
Xq22.1-q23
Deletion-Duplication
2
X
Xq22.1-q28
Deletion
1
X
Xq23
Deletion-Duplication
19
X
Xq23-q28
Deletion
2
X
Xq24
Deletion-Duplication
13
X
Xq24-q25
Deletion
5
X
Xq25-q28
Deletion-Duplication
1
X
Xq26.3
Deletion-Duplication
13
X
Xq26.3-q27.1
Duplication
2
X
Xq26.3-q28
Deletion
2
X
Xq27.1-q28
Deletion-Duplication
1
X
Xq27.2-q28
Deletion
1
X
Xq27.3
Deletion-Duplication
13
X
Xq27.3-q28
Deletion
12
X
Xq28
Deletion-Duplication
83
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
CG1718
CG1718
Drosophila melanogaster
Ueoka I , et al. 2017
1
3
Actl6b
actin-like 6B [Mus musculus
Mus musculus
NA
Wenderski W et al. 2020
1
3
Adnp
Activity-dependent neuroprotective protein
Mus musculus
Vulih-Shultzman I , et al. 2007
10
17
Adora2a
Adenosine A2a receptor
Mus musculus
Unknown
Chen JF , et al. 1999
2
2
Ahi1
Abelson helper integration site 1
Mus musculus
Unknown
Hsiao YC , et al. 2009
4
5
Aldh5a1
Aldehyde Dehydrogenase family 5, subfamily A1
Mus musculus
Unknown
Hogema BM , et al. 2001
1
4
Ambra1
autophagy and beclin 1 regulator 1
Mus musculus
11p11.2
Dere E , et al. 2014
3
4
Ank2
ankyrin 2, brain
Mus musculus
Scotland P , et al. 1998
4
15
Ankrd11
ankyrin repeat domain 11
Mus musculus
Unknown
Barbaric I , et al. 2007
3
4
Anks1b
ankyrin repeat and sterile alpha motif domain containing 1B
Mus musculus
Carbonell AU , et al. 2019
2
8
Apba2
amyloid beta (A4) precursor protein-binding, family A, member 2
Mus musculus
Unknown
Sano Y , et al. 2009
1
2
Apc
adenomatosis polyposis coli
Mus musculus
Mohn JL , et al. 2014
1
2
App
amyloid beta (A4) precursor protein
Mus musculus
Bailey AR , et al. 2013
1
1
Arhgap32
Rho GTPase activating protein 32
Mus musculus
Nakamura T , et al. 2016
1
3
Arhgap33
Rho GTPase activating protein 33
Mus musculus
Schuster S , et al. 2015
1
6
Arhgef10
Rho guanine nucleotide exchange factor (GEF) 10
Mus musculus
Lu DH , et al. 2018
1
1
Arid1b
AT rich interactive domain 1B (SWI-like)
Mus musculus
Celen C , et al. 2017
6
18
arnt2
aryl-hydrocarbon receptor nuclear translocator 2
Danio rerio
Blanchet P , et al. 2017
1
1
Arntl
aryl hydrocarbon receptor nuclear translocator-like
Mus musculus
Liu D et al. 2022
2
4
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.
Ishibashi M , et al. 2015
1
4
Arx
aristaless related homeobox
Mus musculus
Unknown
Kitamura K , et al. 2002
4
5
ash1
absent, small, or homeotic discs 1
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Ash1l
ash1 (absent, small, or homeotic)-like
Mus musculus
Brinkmeier ML , et al. 2015
7
14
Aspm
assembly factor for spindle microtubules
Mus musculus
NA
et al.
1
1
Astn2
astrotactin 2
Mus musculus
Michalina Hanzel et al. 2024
1
3
Atg7
Autophagy related 7
Mus musculus
Tang G , et al. 2014
1
2
Atp1a3
Sodium potassium ATPase alpha 3 subunit
Mus musculus
Unknown
et al.
1
2
Atp2b2
ATPase, Ca++ transporting, plasma membrane 2
Mus musculus
Fakira AK , et al. 2012
1
1
Atp8a1
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
Mus musculus
Chromosome 4 (human)
Kerr DJ , et al. 2016
1
2
Atrnl1
Attractin like 1
Mus musculus
Unknown
Walker WP , et al. 2007
1
3
Atrx
ATRX, chromatin remodeler
Mus musculus
Katherine M Quesnel et al. 2023
1
1
auts2a
autism susceptibility candidate 2a
Danio rerio
Beunders G , et al. 2013
2
9
Auts2
Autism susceptibility candidate 2
Mus musculus
Gao Z , et al. 2014
4
21
Avp
arginine vasopressin
Rattus norvegicus
Feifel D , et al. 2004
1
6
Avpr1a
Arginine vasopressin receptor 1A
Mus musculus
Unknown
Hu SB , et al. 2003
3
2
Baiap2
brain-specific angiogenesis inhibitor 1-associated protein 2
Mus musculus
Unknown
Kim MH , et al. 2009
3
7
Bckdk
branched chain ketoacid dehydrogenase kinase
Mus musculus
Joshi MA , et al. 2006
3
3
Bckdk
branched chain ketoacid dehydrogenase kinase
Rattus norvegicus
Zigler JS Jr , et al. 2016
1
1
Bcl11a
B cell CLL/lymphoma 11A (zinc finger protein)
Mus musculus
2p16.1
Dias C , et al. 2016
3
4
Bdnf
brain derived neurotrophic factor
Mus musculus
Kyzar EJ , et al. 2012
1
1
Brinp1
BMP/RA-inducible neural-specific protein 1
Mus musculus
Unknown
Berkowicz SR , et al. 2016
2
3
Brinp3
BMP/retinoic acid inducible neural specific 3
Mus musculus
NA
Berkowicz SR et al. 2016
1
1
cac
cacophony
Drosophila melanogaster
Tong H , et al. 2016
1
4
cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
Danio rerio
12p13.33
Ramachandran KV , et al. 2013
1
6
Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
Mus musculus
Unknown
Seisenberger C , et al. 2000
8
13
Cacna1c
calcium voltage-gated channel subunit alpha1 C
Rattus norvegicus
Unknown
Kisko TM , et al. 2018
2
1
Cacna1d
calcium channel, voltage-dependent, L type, alpha 1D subunit
Mus musculus
Gabriel Stölting et al. 2023
2
6
Cacna1f
Calcium channel, voltage dependent, alpha 1F subunit
Mus musculus
Mansergh F , et al. 2005
1
1
Cacna1g
Calcium channel, voltage dependent, T type, alpha 1G subunit
Mus musculus
Unknown
Kim D , et al. 2001
5
7
Cacna1h
calcium channel, voltage-dependent, T type, alpha 1H subunit
Mus musculus
Unknown
Chen CC , et al. 2003
1
1
stj
straightjacket
Drosophila melanogaster
Neely GG , et al. 2010
1
6
Cacna2d3
calcium channel, voltage-dependent, alpha2/delta subunit 3
Mus musculus
3p21.1-p14.3
Neely GG , et al. 2010
1
2
Cadm1
cell adhesion molecule 1
Mus musculus
Unknown
Takayanagi Y , et al. 2010
2
4
Cadps2
Ca2+-dependent activator protein for secretion 2
Mus musculus
Yes
Sadakata T , et al. 2007
5
5
Camk2a
calcium/calmodulin-dependent protein kinase II alpha
Mus musculus
Stephenson JR , et al. 2017
1
2
Caprin1
RNA granule protein 105 (Caprin 1)
Mus musculus
Unknown
Ohashi R , et al. 2016
1
2
Caskin1
CASK interacting protein 1
Mus musculus
et al.
1
1
Cbln1
Cerebellin 1 precursor protein
Mus musculus
Hirai H , et al. 2005
3
7
Cc2d1a
Coiled-coil and C2 domain containing 1A
Mus musculus
Oaks AW , et al. 2016
2
10
Cd38
CD38 antigen
Mus musculus
Unknown
Jin D , et al. 2007
3
2
Cdk2
Cyclin-dependent kinase 2
Drosophila melanogaster
Park SM , et al. 2017
1
2
Cdkl5
cyclin-dependent kinase-like 5
Mus musculus
Wang IT , et al. 2012
4
13
Celf4
CUGBP, Elav-like family member 4
Mus musculus
Wagnon JL , et al. 2011
2
7
Celf6
CUGBP, Elav-like family member 6
Mus musculus
Dougherty JD , et al. 2013
1
1
cep290
centrosomal protein 290
Danio rerio
Migliavacca E , et al. 2015
1
2
chd2
chromodomain helicase DNA binding protein 2
Danio rerio
Suls A , et al. 2013
1
1
Chd2
chromodomain helicase DNA binding protein 2
Mus musculus
Nagarajan P , et al. 2009
2
5
Chd5
chromodomain helicase DNA binding protein 5
Mus musculus
Pisansky MT , et al. 2017
1
2
kis
kismet
Drosophila melanogaster
14q11.2
Melicharek DJ , et al. 2010
2
37
Chd7
chromodomain helicase DNA binding protein 7
Mus musculus
Tian C , et al. 2012
3
5
chd8
chromodomain helicase DNA binding protein 8
Danio rerio
Bernier R , et al. 2014
2
22
kis
kismet
Drosophila melanogaster
Melicharek DJ , et al. 2010
2
37
Chd8
chromodomain helicase DNA binding protein 8
Mus musculus
Katayama Y , et al. 2016
17
52
Cic
capicua transcriptional repressor
Mus musculus
19q13.2
Lu HC , et al. 2017
1
8
Clcn4
chloride channel, voltage-sensitive 4
Mus musculus
No
Seong Mi Lee et al. 2025
1
3
Clstn3
calsyntenin 3
Mus musculus
Pettem KL , et al. 2013
1
1
Cntn4
contactin 4
Mus musculus
Unknown
Kaneko-Goto T , et al. 2008
3
3
Cntnap1
contactin associated protein-like 1
Mus musculus
Unknown
Horresh I , et al. 2010
1
3
cntnap2a
contactin associated protein like 2a
Danio rerio
Hoffman EJ , et al. 2016
2
15
Nrx-IV
Neurexin IV
Drosophila melanogaster
Grice SJ , et al. 2015
1
8
Cntnap2
contactin associated protein-like 2
Mus musculus
Unknown
Poliak S , et al. 2003
21
52
Cntnap2
contactin associated protein-like 2
Rattus norvegicus
Unknown
Thomas AM , et al. 2016
2
1
Cntnap4
contactin associated protein-like 4
Mus musculus
Karayannis T , et al. 2014
1
7
1978-09-07
https://mouse.brain-map.org/experiment/show?id=756
et al.
0
0
Cop1
COP1, E3 ubiquitin ligase
Mus musculus
Yong-Xia Li et al.
1
3
Crhr2
Corticotropin releasing hormone receptor 2
Mus musculus
Shemesh Y , et al. 2016
1
2
Crmp1
collapsin response mediator protein 1
Mus musculus
Naoya Yamashita et al. 2013
1
2
Csnk1d
casein kinase 1, delta
Mus musculus
Etchegaray JP , et al. 2009
1
3
Csnk1e
casein kinase 1, epsilon
Mus musculus
Etchegaray JP , et al. 2009
1
1
Csnk2a1
casein kinase 2, alpha 1
Mus musculus
Jose M Cruz-Gamero et al.
1
2
ctnnb1
catenin (cadherin associated protein), beta 1
Mus musculus
Not reported
Dong F , et al. 2016
1
1
ctnnd2b
catenin (cadherin-associated protein), delta 2b
Danio rerio
Turner TN , et al. 2015
1
20
p120ctn
Adherens junction protein p120
Drosophila melanogaster
Grice SJ , et al. 2015
1
2
Ctnnd2
Catenin(cadherin associated protein), delta 2
Mus musculus
Israely I , et al. 2004
2
5
Cttnbp2
cortactin binding protein 2Â
Mus musculus
Shih PY et al. 2020
2
19
Cul3
cullin 3
Mus musculus
et al.
5
16
Cxcr3
chemokine (C-X-C motif) receptor 3
Mus musculus
Unknown
Panzer U , et al. 2007
1
1
Cyfip1
Cytoplasmic FMR1 interacting protein 1
Mus musculus
Oguro-Ando A , et al. 2014
3
3
Dab1
Disabled homolog 1
Mus musculus
Unknown
Rice DS , et al. 2001
1
1
Dab1
DAB1, reelin adaptor protein
Rattus norvegicus
Unknown
Vomund S , et al. 2016
1
1
Dagla
diacylglycerol lipase, alpha
Mus musculus
Shonesy BC , et al. 2018
1
4
Ddx3x
DEAD-box helicase 3 X-linked
Mus musculus
NA
Boitnott A et al. 2021
1
1
Deaf1
Deformed epidermal autoregulatory factor-1
Drosophila melanogaster
Veraksa A , et al. 2002
1
17
Deaf1
Deformed epidermal autoregulatory factor 1
Mus musculus
11p15.5
Luckhart C , et al. 2016
3
9
Dhcr7
7-dehydrocholesterol reductase
Mus musculus
Fitzky BU , et al. 2001
3
5
Dhx9
DExH-box helicase 9
Mus musculus
Calame DG et al. 2023
1
1
Dip2a
disco interacting protein 2 homolog A
Mus musculus
Ma J , et al. 2019
1
2
Disc1
Disrupted in schizophrenia 1
Mus musculus
Unknown
Koike H , et al. 2006
7
13
Disc1
Disrupted in schizophrenia 1
Rattus norvegicus
Unknown
Trossbach SV , et al. 2016
1
2
dlg1
discs large 1
Drosophila melanogaster
Grice SJ , et al. 2015
2
7
Dlg4
discs, large homolog 4 (Drosophila)
Mus musculus
Unknown
Feyder M , et al. 2010
4
4
Dlgap1
DLG associated protein 1
Mus musculus
Coba MP , et al. 2018
2
4
Dlgap2
DLG associated protein 2
Mus musculus
NA
Horner AE et al. 2021
2
4
Dmd
Dystrophin, muscular dystrophy
Mus musculus
Unknown
Kudoh H , et al. 2005
5
6
Dmpk
dystrophia myotonica-protein kinase
Mus musculus
Unknown
Jansen G , et al. 1996
2
4
Dnmt3a
DNA methyltransferase 3A
Mus musculus
NA
Okano M et al. 1999
3
4
Dock4
dedicator of cytokinesis 4
Mus musculus
Guo D et al. 2022
1
1
Dpp6
dipeptidyl peptidase 6
Mus musculus
Liao C , et al. 2013
1
1
Dpysl3
dihydropyrimidinase-like 3
Mus musculus
Not known
Tsutiya A , et al. 2017
1
1
Drd1
Dopamine receptor D1
Mus musculus
Ortiz O , et al. 2010
1
2
Drd1
dopamine receptor D1
Rattus norvegicus
Homberg JR , et al. 2016
2
5
Drd3
Dopamine receptor 3
Mus musculus
Unknown
Accili D , et al. 1996
2
3
Drd4
dopamine receptor D4
Mus musculus
Unknown
Nemirovsky SI , et al. 2009
1
1
Dscam1
Down syndrome cell adhesion molecule 1
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Dscam
Down syndrome cell adhesion molecule
Mus musculus
Maynard KR and Stein E 2012
7
14
Dvl1
Dishevelled segment polarity protein 1
Mus musculus
Belinson H , et al. 2016
1
8
Dvl3
Dishevelled segment polarity protein 3
Mus musculus
Belinson H , et al. 2016
1
5
Dync1h1
dynein cytoplasmic 1 heavy chain 1
Mus musculus
Raddy L Ramos et al. 2024
1
2
dyrk1aa
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, a
Danio rerio
Kim OH , et al. 2017
1
2
mnb
minibrain
Drosophila melanogaster
Shaikh MN , et al. 2016
2
10
Dyrk1a
dual specificity tyrosine-Y- phosphorylation regulated kinase 1a
Mus musculus
Altafaj X , et al. 2001
6
13
kn
knot
Drosophila melanogaster
Chao HT , et al. 2016
1
15
Eef1a2
eukaryotic translation elongation factor 1 alpha 2
Mus musculus
Davies FC , et al. 2017
2
9
G9a
G9a
Drosophila melanogaster
Kramer JM , et al. 2011
2
14
Eif4e
Eukaryotic translation initiation factor 4E
Mus musculus
4q23
Santini E , et al. 2012
2
5
Eif4ebp2
eukaryotic translation initiation factor 4E binding protein 2
Mus musculus
Gkogkas CG , et al. 2012
1
5
Eif4g1
eukaryotic translation initiation factor 4, gamma 1
Mus musculus
Gonatopoulos-Pournatzis T , et al. 2020
1
2
En2
Engrailed 2
Mus musculus
Unknown
Joyner AL , et al. 1991
6
5
Epha6
Eph receptor A6
Mus musculus
Unknown
Savelieva KV , et al. 2008
1
1
Eph
Eph receptor tyrosine kinase
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Ephb2
Eph receptor B2
Mus musculus
He LN et al. 2023
1
5
Eps8
epidermal growth factor receptor pathway substrate 8
Mus musculus
et al.
1
1
Erbb4
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
Mus musculus
Unknown
Fisahn A , et al. 2008
3
2
Erbin
Erbb2 interacting protein
Mus musculus
Tao Y , et al. 2009
1
2
Esr2
estrogen receptor 2
Rattus norvegicus
Zou Y , et al. 2017
1
1
Esrrb
Estrogen related receptor, beta
Mus musculus
Unknown
Chen J and Nathans J 2007
1
2
Ext1
exostoses (multiple) 1
Mus musculus
Irie F , et al. 2012
1
1
fam19a1
family with sequence similarity 19 member A1, C-C motif chemokine like
Danio rerio
Ariyasiri K , et al. 2018
1
1
FAM19A3
family with sequence similarity 19, member A3
Mus musculus
Kim S , et al. 2017
1
2
Fezf2
Fez family zinc finger 2
Mus musculus
Unknown
Hirata T , et al. 2004
1
1
Fgfr2
fibroblast growth factor receptor 2
Mus musculus
Szczurkowska J , et al. 2018
1
6
fmr1
fragile X mental retardation 1
Danio rerio
den Broeder MJ , et al. 2009
3
3
Fmr1
CG6203 gene product from transcript CG6203-RC
Drosophila melanogaster
Dockendorff TC , et al. 2002
9
56
Fmr1
fragile X mental retardation syndrome 1 homolog
Mus musculus
Unknown
no authors 1994
44
68
Fmr1
fragile X mental retardation syndrome 1 homolog
Rattus norvegicus
Unknown
Hamilton SM , et al. 2014
4
3
Folh1
folate hydrolase
Mus musculus
-
Han L , et al. 2009
2
4
Foxg1
Forkhead box G1
Mus musculus
Unknown
Eagleson KL , et al. 2007
5
11
Foxp1
forkhead box P1
Mus musculus
Unknown
Bacon C , et al. 2014
6
9
FoxP
Forkhead box P
Drosophila melanogaster
DasGupta S , et al. 2014
2
14
Foxp2
forkhead box P2
Mus musculus
Unknown
Shu W , et al. 2005
5
8
Frmd5
FERM domain containing 5
Mus musculus
Tian-Jie Lyu et al. 2024
1
2
Frrs1l
ferric-chelate reductase 1 like
Mus musculus
Kang Seon Lee et al. 2025
1
1
Gabbr1
gamma-aminobutyric acid type B receptor subunit 1
Mus musculus
Xiaona Wang et al. 2023
1
1
Gabra5
Gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5
Mus musculus
Unreported
Zurek AA , et al. 2016
1
1
Gabrb1
gamma-aminobutyric acid type A receptor subunit beta 1
Mus musculus
Wang J et al. 2023
1
3
Gabrb2
gamma-aminobutyric acid (GABA) A receptor, subunit beta 2
Mus musculus
1
8
Lcch3
Ligand-gated chloride channel homolog 3
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Gabrb3
gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
Mus musculus
Unknown
DeLorey TM , et al. 1998
9
23
Gad1
glutamate decarboxylase 1
Mus musculus
et al.
1
1
Gadd45b
growth arrest and DNA-damage-inducible 45 beta
Mus musculus
Leach PT , et al. 2012
1
1
Gadd45b
growth arrest and DNA-damage-inducible, beta
Rattus norvegicus
Kigar SL , et al. 2015
1
1
Gap43
growth associated protein 43
Mus musculus
Unknown
Zaccaria KJ , et al. 2010
1
1
Gigyf1
GRB10 interacting GYF protein 1
Mus musculus
Chen G et al. 2022
2
6
Gyf
Gigyf
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Glra2
glycine receptor, alpha 2 subunit
Mus musculus
Unknown
Young-Pearse TL , et al. 2006
1
1
Galphaq
G protein alpha q subunit
Drosophila melanogaster
Park SM , et al. 2017
1
2
Gria2
Glutamate receptor, ionotropic, AMPA 2
Mus musculus
Unknown
Chung HJ , et al. 2003
1
1
Grid1
glutamate receptor, ionotropic, delta 1
Mus musculus
Yadav R , et al. 2012
1
1
Grid2
glutamate receptor, ionotropic, delta 2
Mus musculus
Hills LB , et al. 2013
1
2
Grik2
glutamate receptor, ionotropic, kainate 2 (beta 2)
Mus musculus
Lanore F , et al. 2012
2
4
Grik4
Glutamate receptor, ionotropic, kainate 4
Mus musculus
et al.
4
11
Grin1
glutamate receptor, ionotropic, NMDA1 (zeta 1)
Mus musculus
Gandal MJ , et al. 2012
3
7
Nmdar2
NMDA receptor 2
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Grin2b
glutamate receptor, ionotropic, NMDA2B (epsilon 2)
Mus musculus
Brigman JL , et al. 2010
8
16
Grip1
glutamate receptor interacting protein 1
Mus musculus
Unknown
Takamiya K , et al. 2004
2
3
Grm5
glutamate receptor, metabotropic 5
Mus musculus
Lu YM , et al. 1997
3
12
Grm8
glutamate receptor, metabotropic 8
Mus musculus
Unknown
Duvoisin RM , et al. 2005
1
1
Grpr
gastrin releasing peptide receptor
Mus musculus
Unknown
Wada E , et al. 1997
3
5
Gsc2
goosecoid homebox 2
Mus musculus
Unknown
Long JM , et al. 2006
1
1
Gsk3b
glycogen synthase kinase 3 beta
Mus musculus
Unknown
Mines MA , et al. 2010
1
1
Gstm1
Glutathione S-transferase, mu 1
Mus musculus
Unknown
Yochum CL , et al. 2010
1
1
Gtf2i
general transcription factor II I
Mus musculus
Unknown
Sakurai T , et al. 2011
2
5
Hcn1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
Mus musculus
Alessandro Massella et al. 2009
1
3
Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
Rattus norvegicus
Ohno Y , et al. 2015
1
4
Hdac3
Histone deacetylase 3
Mus musculus
5q31
Nott A , et al. 2016
1
1
Hdac4
Histone deacetylase 4
Mus musculus
Unknown
Vega RB , et al. 2004
1
2
Hdc
histidine decarboxylase
Mus musculus
Castellan Baldan L , et al. 2014
2
20
hgfa
hepatocyte growth factor a
Danio rerio
Elsen GE , et al. 2009
1
2
Hmgn1
High mobility group nucleosomal binding domain 1
Mus musculus
Unknown
Abuhatzira L , et al. 2011
1
2
Hnrnpu
heterogeneous nuclear ribonucleoprotein U
Mus musculus
Sapir T et al. 2022
2
7
Homer1
homer homolog 1
Mus musculus
et al.
3
4
Homer1
homer scaffolding protein 1
Rattus norvegicus
Banerjee A , et al. 2016
1
2
Homer2
homer homolog 2
Mus musculus
Szumlinski KK , et al. 2004
1
1
Homer3
homer homolog 3
Mus musculus
Szumlinski KK , et al. 2004
1
1
Hoxa1
Homeobox A1
Mus musculus
Unknown
Lufkin T , et al. 1991
2
3
Gp93
Glycoprotein 93
Drosophila melanogaster
Park SM , et al. 2017
1
2
Htr1b
5-hydroxytryptamine (serotonin) receptor 1B
Mus musculus
Unknown
Saudou F , et al. 1994
1
2
Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
Mus musculus
Unknown
Weisstaub NV , et al. 2006
2
4
Htr3a
5-hydroxytryptamine (serotonin) receptor 3A
Mus musculus
Unknown
Bhattacharya A , et al. 2004
2
3
Ifng
Interferon gamma
Mus musculus
Filiano AJ , et al. 2016
1
3
Ifngr1
Interferon gamma receptor 1
Mus musculus
Filiano AJ , et al. 2016
1
1
Il1rapl1
interleukin 1 receptor accessory protein-like 1
Mus musculus
Unknown
Pavlowsky A , et al. 2010
2
2
Immp2l
IMP2 inner mitochondrial membrane peptidase-like
Mus musculus
Unknown
Lu B , et al. 2007
1
2
Iqsec2
IQ motif and Sec7 domain 2
Mus musculus
X-linked
Rogers EJ , et al. 2019
2
2
Itgb3
integrin beta 3
Mus musculus
Unknown
Carter MD , et al. 2011
2
2
Jakmip1
janus kinase and microtubule interacting protein 1
Mus musculus
syntenic with part of mouse chromosome 5,
et al.
1
1
Kat6b
K(lysine) acetyltransferase 6B
Mus musculus
Maria I Bergamasco et al. 2024
1
4
Katnal2
katanin p60 subunit A-like 2
Mus musculus
Ryeonghwa Kang et al. 2024
1
2
Kcnh7
potassium voltage-gated channel, subfamily H (eag-related), member 7
Mus musculus
Jürgen R Schwarz et al. 2024
2
3
kcnj10
ATP-sensitive inward rectifier potassium channel 10
Danio rerio
Sicca F , et al. 2016
1
8
Irk1
Inwardly rectifying potassium channel 2
Drosophila melanogaster
DasGupta S , et al. 2014
1
4
Kcnma1
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
Mus musculus
Yes
Sausbier M , et al. 2004
3
3
Kcnq2
potassium voltage-gated channel, subfamily Q, member 2
Mus musculus
Unknown
Hawkins NA , et al. 2010
1
1
kctd13
potassium channel tetramerization domain containing 13
Danio rerio
Golzio C , et al. 2012
4
13
CG10465
CG10465
Drosophila melanogaster
Iyer J , et al. 2018
1
11
Kctd13
potassium channel tetramerisation domain containing 13
Mus musculus
16p11.2
Escamilla CO , et al. 2017
2
6
Kdm2b
lysine (K)-specific demethylase 2B
Mus musculus
Gao Y et al. 2022
1
2
Kdm5a
lysine demethylase 5A
Mus musculus
NA
El Hayek L et al. 2020
1
1
Kdm5b
lysine (K)-specific demethylase 5B
Mus musculus
Martin HC et al. 2018
2
2
Kdm5c
lysine (K)-specific demethylase 5C
Mus musculus
Yes
Bonefas KM et al. 2023
1
3
kdm6a
lysine (K)-specific demethylase 6A
Danio rerio
Lindgren AM , et al. 2013
1
3
Kdm6b
KDM1 lysine (K)-specific demethylase 6B
Mus musculus
Gao Y et al. 2022
1
3
Kirrel3
kirre like nephrin family adhesion molecule 3
Mus musculus
Hisaoka T , et al. 2018
1
1
Klf7
Kruppel-like factor 7 (ubiquitous)
Mus musculus
Tian H et al. 2022
2
7
Kmt2a
Lysine (K)-specific methyltransferase 2A
Mus musculus
Shen EY , et al. 2016
3
4
trr
trithorax-related
Drosophila melanogaster
Koemans TS , et al. 2017
1
1
Kmt2c
lysine (K)-specific methyltransferase 2C
Mus musculus
Brauer B et al. 2023
2
4
Kmt2e
Lysine (K)-specific methyltransferase 2E
Mus musculus
Li YJ et al. 2023
1
1
Hmt4-20
Histone methyltransferase 4-20
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Kmt5b
lysine methyltransferase 5B
Mus musculus
NA
Wickramasekara RN et al. 2021
2
2
LanB2
Laminin B2
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
lat
linker for activation of T cells
Danio rerio
Loviglio MN , et al. 2017
1
12
Lrfn2
leucine rich repeat and fibronectin type III domain containing 2
Mus musculus
Morimura N , et al. 2017
1
2
Lrrc4
leucine rich repeat containing 4
Mus musculus
Um SM , et al. 2018
1
4
Lrrc7
Leucine rich repeat containing 7
Mus musculus
Unknown
Carlisle HJ , et al. 2011
1
1
Magel2
melanoma antigen, familyL,2
Mus musculus
Kozlov SV , et al. 2007
3
1
Maoa
Monoamine Oxidase A
Mus musculus
Unknown
Cases O , et al. 1995
3
3
Map1b
microtubule-associated protein 1B
Mus musculus
Guo Y et al. 2023
1
1
Mapk1
mitogen-activated protein kinase 1
Mus musculus
Unknown
Satoh Y , et al. 2011
1
1
mapk3
mitogen-activated protein kinase 3
Danio rerio
Golzio C , et al. 2012
2
2
rl
rolled
Drosophila melanogaster
Park SM , et al. 2017
3
24
Mapk8ip2
mitogen-activated protein kinase 8 interacting protein 2
Mus musculus
Yes
Giza J , et al. 2010
1
1
Mark2
MAP/microtubule affinity regulating kinase 2
Mus musculus
Hanna O Caiola et al. 2024
2
4
Mbd2
methyl-CpG binding domain protein 2
Mus musculus
Unknown
Hendrich B , et al. 2001
1
2
Mbd3
methyl-CpG binding domain protein 3
Mus musculus
Unknown
Hendrich B , et al. 2001
1
1
Mboat7
membrane bound O-acyltransferase domain containing 7
Mus musculus
NA
Lee HC et al. 2012
1
1
Mcph1
microcephaly, primary autosomal recessive 1
Mus musculus
Unknown
Liang Y , et al. 2010
1
2
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
Mus musculus
Connor SA , et al. 2016
2
11
mecp2
methyl CpG binding protein 2
Danio rerio
Leong WY , et al. 2016
2
13
hMECP2
methyl-CpG binding protein 2
Drosophila melanogaster
Cukier HN , et al. 2008
1
113
Mecp2
methyl CpG binding protein 2
Mus musculus
Yes
et al.
36
95
Mecp2
methyl CpG binding protein 2
Rattus norvegicus
Unknown
Engineer CT , et al. 2015
6
3
Mef2c
myocyte enhancer factor 2C
Mus musculus
Unknown
Vong LH , et al. 2005
6
15
met
MET proto-oncogene, receptor tyrosine kinase
Danio rerio
Elsen GE , et al. 2009
1
1
Met
met proto-oncogene
Mus musculus
Unknown
Bladt F , et al. 1995
7
10
Mir137
microRNA 137
Mus musculus
Cheng Y , et al. 2018
1
6
Mthfr
methylenetetrahydrofolate reductase
Mus musculus
Sadigurschi N and Golan HM 2018
2
4
Mtor
mechanistic target of rapamycin kinase
Mus musculus
NA
Rial D et al. 2020
1
1
Myo5a
myosin VA
Mus musculus
Fernando J Bustos et al. 2023
1
4
myt1la
myelin transcription factor 1-like, a
Danio rerio
Blanchet P , et al. 2017
1
2
Myt1l
Myelin transcription factor 1-like protein
Mus musculus
Na
Chen J et al. 2021
3
5
NAT1
NAT1
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Naa15
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
Mus musculus
Mei He et al.
1
3
nbeaa
neurobeachin
Danio rerio
13q13.3
Miller AC , et al. 2014
1
10
rg
rugose
Drosophila melanogaster
13q13.3
Wise A , et al. 2015
1
13
Nbea
neurobeachin
Mus musculus
Unknown
Medrihan L , et al. 2009
3
3
Hem
HEM-protein
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Smr
Smrter
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Negr1
neuronal growth regulator 1
Mus musculus
Singh K , et al. 2018
2
9
Nell1
NEL-like 1
Mus musculus
Chenshuang Li et al. 2023
1
2
Neurod2
neurogenic differentiation 2
Mus musculus
NA
Runge K et al. 2021
1
3
Nexmif
neurite extension and migration factor
Mus musculus
Gilbert J , et al. 2019
2
1
Nf1
Neurofibromin 1
Drosophila melanogaster
Bai L , et al. 2018
1
21
Nf1
neurofibramatosis 1
Mus musculus
Unknown
Brannan CI , et al. 1994
6
10
Nlgn1
neuroligin 1
Mus musculus
Unknown
Varoqueaux F , et al. 2006
7
10
Nlg2
Neuroligin 2
Drosophila melanogaster
Corthals K , et al. 2017
1
1
Nlgn2
neuroligin 2
Mus musculus
Whr M , et al. 2012
3
9
Nlgn2
neuroligin 2
Rattus norvegicus
Kohl C , et al. 2013
1
1
dnl2
Neuroligin 2
Drosophila melanogaster
Hahn N , et al. 2013
1
1
Nlgn3
neuroligin 3
Mus musculus
Yes
Tabuchi K , et al. 2007
24
51
Nlgn3
neuroligin 3
Rattus norvegicus
Yes
Hamilton SM , et al. 2014
3
1
Nlg4
Neuroligin 4
Drosophila melanogaster
Dong T , et al. 2016
2
2
Nlgn4x
neuroligin 4-like
Mus musculus
Unknown
Jamain S , et al. 2008
3
3
Nos2
Nitric oxide synthase 2, inducible
Mus musculus
Unknown
Arnett HA , et al. 2001
3
1
Npas2
neuronal PAS domain protein 2
Mus musculus
Unknown
Garcia JA , et al. 2000
3
2
Nr2f1
nuclear receptor subfamily 2 group F member 1
Mus musculus
NA
Zhang K et al. 2020
1
2
Nr3c2
nuclear receptor subfamily 3, group C, member 2
Mus musculus
Unknown
Berger S , et al. 2005
2
2
Nrcam
neuron-glia-CAM-related cell adhesion molecule
Mus musculus
Unknown
Moy SS , et al. 2009
1
1
Nrg1
neuregulin 1
Mus musculus
Ehrlichman RS , et al. 2009
1
1
Nrp2
neuropilin 2
Mus musculus
Unknown
Giger RJ , et al. 2000
2
4
Nrx-1
Neurexin 1
Drosophila melanogaster
Larkin A , et al. 2015
3
60
Nrxn1
Neurexin 1
Mus musculus
Unknown
Geppert M , et al. 1998
3
7
Nrxn1
neurexin 1
Rattus norvegicus
Unknown
Esclassan F , et al. 2014
3
2
Nrxn2
Neurexin 2
Mus musculus
Dachtler J , et al. 2014
2
3
Ntng1
Netrin G1
Mus musculus
Unknown
Nishimura-Akiyoshi S , et al. 2007
1
1
Ntng2
Netrin G2
Mus musculus
Unknown
Nishimura-Akiyoshi S , et al. 2007
1
1
Nuak1
NUAK family, SNF1-like kinase, 1
Mus musculus
Unknown
Courchet V , et al. 2018
1
6
Ophn1
Oligophrenin 1
Mus musculus
Unknown
Khelfaoui M , et al. 2007
1
1
Oprm1
opioid receptor, mu 1
Mus musculus
Human 6q24-q25; chr6:154010496-154246867
Gigliucci V , et al. 2014
2
3
Otud7a
OTU domain containing 7A
Mus musculus
15q13.3
Yin J , et al. 2018
1
2
Oxt
oxytocin
Mus musculus
Chromosome 3p25
Ferguson JN , et al. 2000
2
7
Oxtr
Oxytocin receptor
Mus musculus
Unknown
Takayanagi Y , et al. 2005
7
17
P2rx4
purinergic receptor P2X, ligand-gated ion channel 4
Mus musculus
Wyatt LR , et al. 2013
1
2
pacs1a
phosphofurin acidic cluster sorting protein 1a
Danio rerio
Schuurs-Hoeijmakers JH , et al. 2012
1
2
Pafah1b1
platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
Mus musculus
Sudarov A , et al. 2013
1
2
Pak2
p21 (RAC1) activated kinase 2
Mus musculus
Wang Y , et al. 2018
1
3
baz
bazooka
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
PAX5
Paired box 5
Mus musculus
Urbánek P et al. 1994
2
4
Pax6
paired box 6
Rattus norvegicus
Umeda T , et al. 2011
2
2
Pcdh10
protocadherin 10
Mus musculus
Unknown
Uemura M , et al. 2007
2
3
Pcdh19
protocadherin 19
Mus musculus
Hayashi S , et al. 2017
1
4
Pcdh19
protocadherin 19
Rattus norvegicus
Bassani S , et al. 2018
1
2
Pclo
piccolo (presynaptic cytomatrix protein)
Mus musculus
Nitta A et al. 2021
1
2
Per1
Period homolog 1
Mus musculus
Unknown
Zheng B , et al. 2001
1
1
Pglyrp2
peptidoglycan recognition protein 2
Mus musculus
Arentsen T , et al. 2016
1
1
Pik3r6
phosphoinositide-3-kinase, regulatory subunit 6
Mus musculus
Unknown
Sasaki T , et al. 2000
1
2
Pitx1
paired-like homeodomain transcription factor 1
Mus musculus
Unknown
Lancta't C , et al. 1999
1
1
Plaur
plasminogen activator, urokinase receptor
Mus musculus
Unknown
Powell EM , et al. 2003
1
1
Pln
Phospholamban
Mus musculus
Unknown
Luo W , et al. 1994
1
1
Plppr4
phospholipid phosphatase related 4
Mus musculus
Trimbuch T , et al. 2009
3
8
PlexB
Plexin B
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
row
relative of woc
Drosophila melanogaster
Stessman HA , et al. 2016
1
2
Pogz
pogo transposable element with ZNF domain
Mus musculus
Matsumura K , et al. 2020
4
8
Pou3f2
POU domain class 3 transcription factor 2
Mus musculus
Belinson H , et al. 2016
1
2
Prickle1
prickle homolog 1 (Drosophila)
Mus musculus
Tao H , et al. 2011
2
7
Prickle2
prickle homolog 2 (Drosophila)
Mus musculus
Tao H , et al. 2011
2
2
Prkcb
Protein Kinase C, beta
Mus musculus
Unknown
Leitges M , et al. 1996
1
1
Prkdc
Protein kinase, DNA activated, catalytic peptide
Mus musculus
Filiano AJ , et al. 2016
1
2
Prkn
parkin RBR E3 ubiquitin protein ligase
Mus musculus
Unknown
Stichel CC , et al. 2007
2
2
Prkn
parkin RBR E3 ubiquitin protein ligase
Rattus norvegicus
Unknown
Gemechu JM , et al. 2018
1
1
Ptchd1
Patched domain containing 1
Mus musculus
Wells MF , et al. 2016
3
9
Pten
Phosphatase and tensin homolog
Drosophila melanogaster
Radimerski T , et al. 2002
2
5
Pten
phosphatase and tensin homolog
Mus musculus
Unknown
Kwon CH , et al. 2006
22
45
Pten
phosphatase and tensin homolog
Rattus norvegicus
Rowley PA , et al. 2018
1
1
Ptgs2
prostaglandin-endoperoxide synthase 2
Mus musculus
Wong CT , et al. 2018
1
1
Ptprd
protein tyrosine phosphatase receptor type D
Mus musculus
Bastián I Cortés et al. 2024
1
2
Pvalb
Parvalbumin
Mus musculus
Whr M , et al. 2015
1
3
Rab39b
RAB39B, member RAS oncogene family
Mus musculus
NA
Zhang W et al. 2020
1
2
Rai1
retinoic acid induced 1
Mus musculus
Unknown
Bi W , et al. 2005
3
12
Rapgef4
Rap guanine nucleotide exchange factor (GEF) 4
Mus musculus
Unknown
Shibasaki T , et al. 2007
2
2
Rasd1
RAS, dexamethasone induced 1
Mus musculus
Lacaria M , et al. 2013
1
2
Rbfox1
RNA binding protein, fox-1 homolog
Mus musculus
Unknown
Gehman LT , et al. 2011
2
4
Rbfox2
RNA binding protein, fox-1 homolog
Mus musculus
Unknown
Gehman LT , et al. 2011
1
1
Reln
Reelin
Mus musculus
Unknown
Rice DS , et al. 2001
9
9
rheb
Ras homolog, mTORC1 binding
Danio rerio
Reijnders MRF , et al. 2017
1
6
Rheb
Ras homolog enriched in brain
Drosophila melanogaster
Brown HL , et al. 2012
1
2
Rheb
Ras homolog enriched in brain
Mus musculus
Reijnders MRF , et al. 2017
1
3
Rims1
regulating synaptic membrane exocytosis 1
Mus musculus
6q13
Schoch S , et al. 2002
4
10
rlim
ring finger protein, LIM domain interacting
Danio rerio
Frints SGM , et al. 2018
1
11
roraa
RAR-related orphan receptor A, paralog a
Danio rerio
Guissart C , et al. 2018
1
25
Rorb
RAR-related orphan receptor beta
Mus musculus
Aniqa Tasnim et al. 2024
1
2
rpl10
ribosomal protein L10
Danio rerio
Xq28
Brooks SS , et al. 2014
1
11
Rps6ka3
ribosomal protein S6 kinase polypeptide 3
Mus musculus
Morice E , et al. 2013
1
1
S6k
Ribosomal protein S6 kinase
Drosophila melanogaster
64E8-64E11
Radimerski T , et al. 2002
1
3
Rps6kb1
ribosomal protein S6 kinase, polypeptide 1
Mus musculus
Bhattacharya A , et al. 2012
1
1
Scgn
secretagogin, EF-hand calcium binding protein
Mus musculus
Liu Z et al. 2023
1
3
Scn1a
sodium channel, voltage-gated, type I, alpha
Mus musculus
Unknown
Ogiwara I , et al. 2007
7
19
Scn1a
sodium channel, voltage-gated, type I, alpha
Rattus norvegicus
Unknown
Ohmori I , et al. 2014
1
2
para
paralytic
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Scn2a
sodium channel, voltage-gated, type II, alpha I
Mus musculus
Unknown
Planells-Cases R , et al. 2000
8
14
Scn8a
sodium channel, voltage-gated, type VIII, alpha
Mus musculus
Unknown
Hawkins NA , et al. 2010
2
5
Sema3f
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
Mus musculus
Li Z , et al. 2019
1
3
Sema5a
Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
Mus musculus
Unknown
Fiore R , et al. 2005
1
1
Senp1
SUMO1/sentrin specific peptidase 1
Mus musculus
Cheng J et al. 2007
2
4
Setd5
SET domain containing 5
Mus musculus
Deliu E , et al. 2018
3
4
Sgsh
N-sulfoglucosamine sulfohydrolase (sulfamidase)Â
Mus musculus
NA
De Risi M et al. 2021
1
5
Sh3rf2
SH3 domain containing ring finger 2
Mus musculus
Wang S , et al. 2018
1
2
Shank1
SH3/ankyrin domain gene 1
Mus musculus
Unknown
Hung AY , et al. 2008
4
4
Shank2
SH3/ankyrin domain gene 2
Mus musculus
Schmeisser MJ , et al. 2012
9
24
Shank2
SH3 and multiple ankyrin repeat domains 2
Rattus norvegicus
Modi ME , et al. 2018
1
5
shank3b
SH3 and multiple ankyrin repeat domains 3b
Danio rerio
Kozol RA , et al. 2015
2
5
Shank3
SH3/ankyrin domain gene 3
Mus musculus
Unknown
Bozdagi O , et al. 2010
42
111
Shank3
SH3 and multiple ankyrin repeat domains 3
Rattus norvegicus
Unknown
Harony-Nicolas H , et al. 2017
3
4
Sin3A
Sin3A
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Slc16a8
solute carrier family 16 (monocarboxylic acid transporters), member 8
Mus musculus
Daniele LL , et al. 2008
1
1
Slc1a2
solute carrier family 1 (glial high affinity glutamate transporter), member 2
Mus musculus
Aida T , et al. 2015
1
8
Slc25a12
solute carrier family 25 (Mitochondrial carrier, Aralar), member 12
Mus musculus
Unknown
Jalil MA , et al. 2005
2
4
Slc30a3
Solute carrier family 30 (zinc transporter), member 3
Mus musculus
2p23.3
Yoo MH , et al. 2016
1
2
SLC33A1
Solute carrier family 33 member 1
Mus musculus
Unknown
Hullinger R , et al. 2016
1
2
Slc35g1
Solute carrier family 35, member G1
Mus musculus
Wang J et al. 2023
1
2
Slc4a10
solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
Mus musculus
Unknown
Jacobs S , et al. 2008
1
1
Slc6a1
Solute carrier family 6
Mus musculus
Gong N , et al. 2009
1
1
DAT
Dopamine transporter
Drosophila melanogaster
Hamilton PJ , et al. 2013
2
6
Slc6a3
solute carrier family 6 (neurotransmitter transporter), member 3
Mus musculus
et al.
6
15
Slc6a3
solute carrier family 6 member 3
Rattus norvegicus
Hadar R , et al. 2016
1
4
Slc6a4
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Mus musculus
Unknown
Lira A , et al. 2003
7
14
Slc6a4
solute carrier family 6 member 4
Rattus norvegicus
Homberg JR , et al. 2007
2
3
Slc6a8
Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Mus musculus
Xq28
Baroncelli L , et al. 2016
1
2
Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
Mus musculus
Tafrlungeanu DC , et al. 2016
2
3
Slc9a6
solute carrier family 9 (sodium/hydrogen exchanger), member 6
Mus musculus
Ouyang Q , et al. 2013
3
3
Slc9a9
solute carrier family 9 (sodium/hydrogen exchanger), member 9
Mus musculus
Chromosome 3
Ullman JC , et al. 2018
1
3
Slitrk2
SLIT and NTRK-like family, member 2
Mus musculus
Katayama KI et al. 2022
2
7
Slitrk5
SLIT and NTRK-like family, member 5
Mus musculus
Shmelkov SV , et al. 2010
1
2
Spast
Spastin
Mus musculus
Tarrade A , et al. 2006
1
1
SPTBN1
Spectrin beta, non-erythrocytic 1
Mus musculus
NA
Lorenzo DN et al. 2019
2
4
dom
domino
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Srcap
Snf2-related CREBBP activator protein
Mus musculus
Chaodong Ding et al. 2024
1
3
Srrm4
serine/arginine repetitive matrix 4
Mus musculus
12q24.23
Quesnel-Vallires M , et al. 2016
1
2
St8sia2
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
Mus musculus
Unknown
Angata K , et al. 2004
3
5
Stat1
Signal transducer and activator of transcription 1
Mus musculus
Filiano AJ , et al. 2016
1
2
Stk39
Seine/threonin kinase 39, STE20/SPS1 homolog (yeast)
Mus musculus
Unknown
Geng Y , et al. 2009
1
1
Stx1a
syntaxin 1A
Mus musculus
Takahiro Nakayama et al. 2024
1
4
Stxbp1
syntaxin binding protein 1
Mus musculus
Human 9q34.11
Kovacevic J , et al. 2018
1
6
Sybu
syntabulin (syntaxin-interacting)
Mus musculus
8q23.2
Xiong GJ et al. 2020
1
1
Syn1
Synapsin I
Mus musculus
Greco B , et al. 2013
2
1
Syn2
Synapsin II
Mus musculus
Greco B , et al. 2013
2
3
Syn3
Syapsin III
Mus musculus
Greco B , et al. 2013
2
2
syngap1b
synaptic Ras GTPase activating protein 1a
Danio rerio
6p21.32
Kozol RA , et al. 2015
1
6
CG42684
CG42684
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Syngap1
synaptic Ras GTPase activating protein 1 homolog (rat)
Mus musculus
Unknown
Kim JH , et al. 2003
11
20
Tao
Tao
Drosophila melanogaster
Iyer J , et al. 2018
1
5
Taok2
TAO kinase 2
Mus musculus
Richter M , et al. 2018
2
12
Tbr1
T-box brain gene1
Mus musculus
Hevner RF , et al. 2001
10
31
org-1
optomotor-blind-related-gene-1
Drosophila melanogaster
Grice SJ , et al. 2015
1
7
Tbx1
T-box1
Mus musculus
Unknown
Long JM , et al. 2006
2
1
Tcf20
transcription factor 20
Mus musculus
22q13.2
Feng C et al. 2020
1
5
da
daughterless
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Tcf4
transcription factor 4
Mus musculus
Kennedy AJ , et al. 2016
3
7
Tcf4
transcription factor 4
Rattus norvegicus
Rannals MD , et al. 2016
2
3
Tcf7l2
transcription factor 7 like 2, T cell specific, HMG box
Mus musculus
Qi H et al. 2023
2
16
Tert
Telomerase reverse transcriptase
Mus musculus
Kim KC , et al. 2015
1
2
Tet2
Tet methylcytosine dioxygenase 2
Mus musculus
Xu X et al. 2023
1
6
Thra
thyroid hormone receptor alpha
Mus musculus
Unknown
Pilhatsch M , et al. 2010
1
1
Top3beta
Topoisomerase 3beta
Drosophila melanogaster
Ahmad M , et al. 2017
1
4
Top3b
Topoisomerase (DNA) III beta
Mus musculus
Kwan KY and Wang JC 2001
3
3
Tph2
Tryptophan hydroxylase 2
Mus musculus
Kane MJ , et al. 2012
2
3
Trap1
TNF receptor-associated protein 1
Mus musculus
MaÅ?gorzata Rydzanicz et al. 2024
1
2
trappc6b
trafficking protein particle complex 6b
Danio rerio
Marin-Valencia I , et al. 2017
1
8
Trim32
Tripartite motif-containing 32
Mus musculus
Zhu JW , et al. 2019
2
4
Trio
triple functional domain (PTPRF interacting)
Mus musculus
Katrancha SM , et al. 2019
3
7
ctrip
circadian trip
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Trpc5
transient receptor potential cation channel, subfamily C, member 5
Mus musculus
yes
Yongxiang Li et al. 2024
1
9
Trpc6
Transient receptor potential cation channel, subfamily C, member 6
Mus musculus
Griesi-Oliveira K , et al. 2014
1
4
Trpv1
transient receptor potential cation channel, subfamily V, member 1
Mus musculus
Caterina MJ , et al. 2000
1
1
Tsc1
Tsc1
Drosophila melanogaster
Radimerski T , et al. 2002
2
11
Tsc1
Tuberous sclerosis 1
Mus musculus
Unknown
Kwiatkowski DJ , et al. 2002
14
40
Tsc2
tuberous sclerosis 2
Mus musculus
Unknown
Onda H , et al. 1999
10
25
Tsc2
tuberous sclerosis 2
Rattus norvegicus
Unknown
Waltereit R , et al. 2005
3
3
Tshz1
teashirt zinc finger family member 1
Mus musculus
Kuerbitz J et al. 2018
1
3
Tshz3
Teashirt zinc finger family member 3
Mus musculus
Caubit X , et al. 2016
2
4
Tyr
Tyrosinase
Mus musculus
Unknown
Hamilton SM , et al. 2010
1
1
Uba6
ubiquitin-like modifier activating enzyme 6
Mus musculus
Lee PC , et al. 2013
1
1
Ubap2l
ubiquitin-associated protein 2-like
Mus musculus
Jia X et al. 2022
1
2
Ube3a
Ubiquitin protein ligase E3A
Drosophila melanogaster
Wu Y , et al. 2008
4
64
Ube3a
ubiquitin protein ligase E3A
Mus musculus
Unknown
Jiang YH , et al. 1998
13
34
Ube3b
ubiquitin protein ligase E3B
Mus musculus
Basel-Vanagaite L , et al. 2012
1
1
Ucn3
Urocortin 3
Mus musculus
Shemesh Y , et al. 2016
1
2
Upf2
UPF2regulator of nonsense transcripts homolog
Mus musculus
Johnson JL , et al. 2019
1
3
Upf3b
UPF3 regulator of nonsense transcripts homolog B (yeast)
Mus musculus
Huang L , et al. 2017
1
3
Usp7
Ubiquitin specific peptidase 7
Mus musculus
Kon N , et al. 2009
2
3
Vcp
valosin containing protein
Mus musculus
Tzyy-Nan Huang et al. 2020
1
4
Vldlr
very low density lipoprotein receptor
Rattus norvegicus
Unknown
Iwata K , et al. 2012
1
1
Vrk3
vaccinia related kinase 3
Mus musculus
19q13.33
Kang MS , et al. 2017
1
5
bchs
blue cheese
Drosophila melanogaster
Stessman HA , et al. 2017
2
4
Wdfy3
WD repeat and FYVE domain containing 3
Mus musculus
Unknown
Orosco LA , et al. 2014
1
4
Wwox
WW domain-containing oxidoreductase
Rattus norvegicus
Suzuki H , et al. 2007
3
1
Zbtb18
Zinc finger and BTB domain containing 18
Mus musculus
Hirai S et al. 2023
1
1
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
ADNP
activity-dependent neuroprotector homeobox
51
ADORA2A
adenosine A2a receptor
15
AHI1
Abelson helper integration site 1
6
ALDH5A1
aldehyde dehydrogenase 5 family, member A1
8
ANK2
ankyrin 2, neuronal
36
ANKRD11
ankyrin repeat domain 11
30
APBA2
amyloid beta (A4) precursor protein-binding, family A, member 2
32
APC
adenomatous polyposis coli
391
APP
amyloid beta (A4) precursor protein
79
ARHGAP32
Rho GTPase activating protein 32
9
Arhgap33
Rho GTPase-activating protein 33
5
ARID1B
AT rich interactive domain 1B (SWI1-like)
27
ARNT2
aryl-hydrocarbon receptor nuclear translocator 2
297
ARX
aristaless related homeobox
1010
ASH1L
ash1 (absent, small, or homeotic)-like (Drosophila)
21
ASTN2
astrotactin 2
4
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
9
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
121
ATP8A1
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
4
ATRNL1
attractin-like 1
1
ATRX
alpha thalassemia/mental retardation syndrome X-linked
7
AUTS2
Autism susceptibility gene 2 protein
143
AVPR1A
arginine vasopressin receptor 1A
3
BAIAP2
BAI1-associated protein 2
22
BCKDK
branched chain ketoacid dehydrogenase kinase
23
BCL11A
B-cell CLL/lymphoma 11A (zinc finger protein)
42
BDNF
brain-derived neurotrophic factor
9
CACNA1C
calcium channel, voltage-dependent, L type, alpha 1C subunit
48
CACNA1F
Voltage-dependent L-type calcium channel subunit alpha-1F
6
CACNA1G
calcium channel, voltage-dependent, T type, alpha 1G subunit
9
CACNA1H
calcium channel, voltage-dependent, T type, alpha 1H subunit
14
CADM1
cell adhesion molecule 1
22
CADPS2
Ca++-dependent secretion activator 2
18
CAPRIN1
cell cycle associated protein 1
4
CC2D1A
coiled-coil and C2 domain containing 1A
13
CDKL5
cyclin-dependent kinase-like 5
23
CHD2
chromodomain helicase DNA binding protein 2
47
CHD7
chromodomain helicase DNA binding protein 7
110
CHD8
chromodomain helicase DNA binding protein 8
4376
CLSTN3
calsyntenin 3
6
CNTN4
contactin 4
6
CNTNAP2
contactin associated protein-like 2
44
CNTNAP4
Contactin-associated protein-like 4
6
CSNK1D
casein kinase 1, delta
55
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
235
CTNND2
catenin (cadherin-associated protein), delta 2
99
CTTNBP2
cortactin binding protein 2
27
CUL3
cullin 3
1281
DEAF1
DEAF1 transcription factor
25
DHCR7
7-dehydrocholesterol reductase
10
DIP2A
DIP2 disco-interacting protein 2 homolog A (Drosophila)
31
DISC1
disrupted in schizophrenia 1
178
DLG1
discs, large homolog 1 (Drosophila)
18
DLG4
DLG4discs, large homolog 4 (Drosophila)
127
Dlgap2
Disks large-associated protein 2
11
DMD
dystrophin
70
DMPK
dystrophia myotonica-protein kinase
18
DOCK4
dedicator of cytokinesis 4
9
DPP6
dipeptidyl-peptidase 6
6
DRD1
dopamine receptor D1
3
DRD3
dopamine receptor D3
8
DSCAM
Down syndrome cell adhesion molecule
8
DVL1
dishevelled, dsh homolog 1 (Drosophila)
4
DVL3
dishevelled, dsh homolog 3 (Drosophila)
27
DYRK1A
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
55
EHMT1
euchromatic histone-lysine N-methyltransferase 1
5013
EIF4E
eukaryotic translation initiation factor 4E
44
EIF4EBP2
eukaryotic translation initiation factor 4E binding protein 2
9
EN2
engrailed homeobox 2
10
EPHB2
EPH receptor B2
6
ERBB4
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
2
ESR2
estrogen receptor 2 (ER beta)
11
EXT1
exostosin 1
27
Fezf2
Fez family zinc finger protein 2
4
FMR1
fragile X mental retardation 1
9286
FOXG1
forkhead box G1
34
FOXP1
forkhead box P1
153
FOXP2
forkhead box P2
307
GABRB1
gamma-aminobutyric acid (GABA) A receptor, beta 1
6
GABRB3
gamma-aminobutyric acid (GABA) A receptor, beta 3
29
GADD45B
Growth arrest and DNA damage-inducible protein GADD45 beta
17
GAP43
growth associated protein 43
33
GIGYF1
GRB10 interacting GYF protein 1
12
GRID2
glutamate receptor, ionotropic, delta 2
17
GRIK2
glutamate receptor, ionotropic, kainate 2
29
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
65
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
77
GRIP1
glutamate receptor interacting protein 1
82
GRM5
glutamate receptor, metabotropic 5
38
GRPR
gastrin-releasing peptide receptor
56
GSK3B
glycogen synthase kinase 3 beta
26
GSTM1
Glutathione S-transferase Mu 1
6
GTF2I
general transcription factor IIi
102
HCN1
hyperpolarization activated cyclic nucleotide-gated potassium channel 1
11
HDAC4
histone deacetylase 4
52
HMGN1
high mobility group nucleosome binding domain 1
35
HOMER1
homer homolog 1 (Drosophila)
61
HOXA1
homeobox A1
338
HTR1B
5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
5
HTR2A
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
3
IL1RAPL1
interleukin 1 receptor accessory protein-like 1
7
IMMP2L
Mitochondrial inner membrane protease subunit 2
3
ITGB3
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
51
Jakmip1
Janus kinase and microtubule-interacting protein 1
43
KATNAL2
katanin p60 subunit A-like 2
3
KCNJ10
potassium inwardly-rectifying channel, subfamily J, member 10
21
KCNMA1
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
26
KCNQ2
potassium voltage-gated channel, KQT-like subfamily, member 2
10
KCTD13
potassium channel tetramerisation domain containing 13
40
KDM5B
lysine (K)-specific demethylase 5B
97
KDM5C
lysine (K)-specific demethylase 5C
17
KDM6B
Lysine-specific demethylase 6B
14
KMT2A
lysine (K)-specific methyltransferase 2A
3
KMT2C
lysine methyltransferase 2C
2
KMT2E
lysine (K)-specific methyltransferase 2E
32
MAGEL2
MAGE-like 2
7
MAOA
monoamine oxidase A
4
MAPK1
mitogen-activated protein kinase 1
7
MAPK3
mitogen-activated protein kinase 3
31
MAPK8IP2
mitogen-activated protein kinase 8 interacting protein 2
6
MBD3
methyl-CpG binding domain protein 3
47
MCPH1
microcephalin 1
12
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
1
MECP2
methyl CpG binding protein 2 (Rett syndrome)
522
MEF2C
myocyte enhancer factor 2C
14
MET
met proto-oncogene (hepatocyte growth factor receptor)
142
MTOR
mechanistic target of rapamycin (serine/threonine kinase)
41
NAA15
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
14
NBEA
neurobeachin
120
NCKAP1
NCK-associated protein 1
43
NELL1
NEL-like 1 (chicken)
22
NF1
neurofibromin 1
40
NLGN1
neuroligin 1
21
NLGN2
neuroligin 2
18
NLGN3
neuroligin 3
95
NLGN4X
neuroligin 4, X-linked
5
NOS2
nitric oxide synthase 2, inducible
41
NPAS2
neuronal PAS domain protein 2
14
NRCAM
neuronal cell adhesion molecule
6
NRG1
Pro-neuregulin-1, membrane-bound isoform
41
NRP2
neuropilin 2
43
NRXN1
neurexin 1
76
NRXN2
Neurexin-2
12
NTNG1
netrin G1
5
OPHN1
oligophrenin 1
9
OTUD7A
OTU domain containing 7A
1
OXT
oxytocin, prepropeptide
8
OXTR
oxytocin receptor
13
PAFAH1B1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
14
PAX6
paired box 6
347
PCDH10
protocadherin 10
10
PCDH19
protocadherin 19
5
PER1
period homolog 1 (Drosophila)
46
PITX1
paired-like homeodomain 1
23
PLAUR
plasminogen activator, urokinase receptor
108
PLN
phospholamban
13
POGZ
pogo transposable element with ZNF domain
38
POU3F2
POU class 3 homeobox 2
1
PRICKLE1
prickle homolog 1 (Drosophila)
13
PRICKLE2
prickle homolog 2 (Drosophila)
17
PRKCB
protein kinase C, beta
37
PTCHD1
patched domain containing 1
1
PTEN
phosphatase and tensin homolog
184
PTGS2
Prostaglandin G/H synthase 2
2
RAB39B
RAB39B, member RAS oncogene family
29
RAI1
retinoic acid induced 1
15
RAPGEF4
Rap guanine nucleotide exchange factor (GEF) 4
17
RBFOX1
RNA binding protein, fox-1 homolog (C. elegans) 1
494
RELN
reelin
12
RIMS1
regulating synaptic membrane exocytosis 1
14
RPL10
ribosomal protein L10
15
SCN1A
Sodium channel protein type 1 subunit alpha
3
SCN2A
sodium channel, voltage-gated, type II, alpha subunit
17
SCN8A
sodium channel, voltage gated, type VIII, alpha subunit
14
SEMA5A
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
2
SETD5
SET domain containing 5
17
SHANK1
SH3 and multiple ankyrin repeat domains 1
20
SHANK2
SH3 and multiple ankyrin repeat domains 2
27
SHANK3
SH3 and multiple ankyrin repeat domains 3
183
SIN3A
SIN3 homolog A, transcription regulator (yeast)
25
SLC25A12
solute carrier family 25 (aspartate/glutamate carrier), member 12
11
SLC4A10
solute carrier family 4, sodium bicarbonate transporter, member 10
3
SLC6A3
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
17
SLC6A4
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
7
SLC6A8
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
9
SLC9A6
solute carrier family 9 (sodium/hydrogen exchanger), member 6
32
SLC9A9
solute carrier family 9 (sodium/hydrogen exchanger), member 9
3
SLITRK5
SLIT and NTRK-like protein 5
7
SRRM4
serine/arginine repetitive matrix 4
34
STK39
serine threonine kinase 39
13
STX1A
syntaxin 1A (brain)
28
SYN1
Synapsin-1
12
SYN3
synapsin III
2
SYNGAP1
synaptic Ras GTPase activating protein 1
19
TBR1
T-box, brain, 1
82
TCF4
transcription factor 4
167
TCF7L2
transcription factor 7-like 2 (T-cell specific, HMG-box)
42
THRA
thyroid hormone receptor, alpha
10
TOP3B
topoisomerase (DNA) III beta
1986
TRIO
triple functional domain (PTPRF interacting)
7
TRIP12
thyroid hormone receptor interactor 12
30
TRPC6
Short transient receptor potential channel 6
2
TSC1
tuberous sclerosis 1
118
TSC2
tuberous sclerosis 2
104
UBE3A
ubiquitin protein ligase E3A
166
UBE3B
thyroid hormone receptor interactor 12
4
UPF3B
UPF3 regulator of nonsense transcripts homolog B (yeast)
40
USP7
ubiquitin specific peptidase 7 (herpes virus-associated)
41
WDFY3
WD repeat and FYVE domain containing 3
37
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