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Gene
CNV
Animal Models
PIN
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
GEN609
ANXA1
Annexin A1
9q21.13
Rare single gene variant
0
12
2
Correia CT , et al. 2014
Edit
GEN019
ASS1
argininosuccinate synthetase
9q34.11
Functional
0
3
Hu VW , et al. 2006
Edit
GEN020
ASTN2
astrotactin 2
9q33.1
Rare Single Gene variant
2
37
20
Glessner JT , et al. 2009
Edit
GEN820
BRINP1
BMP/retinoic acid inducible neural specific 1
9q33.1
Functional
0
1
3
Kobayashi M , et al. 2014
Edit
GEN408
CACNA1B
calcium voltage-gated channel subunit alpha1 B
9q34.3
Genetic association
3
38
14
Yatsenko SA , et al. 2012
Edit
GEN1110
CCIN
calicin
9p13.3
Rare single gene variant
2
2
2
De Rubeis S , et al. 2014
Edit
GEN1342
CDK5RAP2
CDK5 regulatory subunit associated protein 2
9q33.2
Syndromic
3
23
14
Kim IB et al. 2022
Edit
GEN307
CNTNAP3
contactin associated protein-like 3
9p12
Rare Single Gene variant
3
10
7
Vaags AK , et al. 2012
Edit
GEN801
CYLC2
cylicin, basic protein of sperm head cytoskeleton 2
9q31.1
Rare single gene variant
2
3
4
Levy D , et al. 2011
Edit
GEN058
DAPK1
death-associated protein kinase 1
9q21.33
Functional
3
14
10
Hu VW , et al. 2006
Edit
GEN1426
DNM1
dynamin 1
9q34.11
Rare single gene variant
3
35
10
et al.
Edit
GEN853
DOCK8
dedicator of cytokinesis 8
9p24.3
Rare single gene variant
3
33
12
De Rubeis S , et al. 2014
Edit
GEN557
DOLK
dolichol kinase
9q34.11
Syndromic
0
Yes
4
4
Helander A , et al. 2013
Edit
GEN1351
ECPAS
Ecm29 proteasome adaptor and scaffold
9q31.3
Rare single gene variant
3
6
4
Zhou X et al. 2022
Edit
GEN344
EHMT1
Euchromatic histone-lysine N-methyltransferase 1
9q34.3
Syndromic
4
68
42
Talkowski ME , et al. 2012
Edit
GEN826
ELAVL2
ELAV like neuron-specific RNA binding protein 2
9p21.3
Rare single gene variant
2
7
7
Iossifov I et al. 2014
Edit
GEN1198
FXN
frataxin
9q21.11
Rare single gene variant
2
9
2
Trost B et al. 2020
Edit
GEN1010
GABBR2
gamma-aminobutyric acid type B receptor subunit 2
9q22.33
Functional
4
20
15
EuroEPINOMICS-RES Consortium , et al. 2014
Edit
GEN682
GDA
guanine deaminase
9q21.13
Rare single gene variant
0
3
3
Li J , et al. 2015
Edit
GEN347
GNA14
Guanine nucleotide binding protein (G protein), alpha 14
9q21.2
Rare Single Gene variant
0
2
2
Talkowski ME , et al. 2012
Edit
GEN626
GRIN1
Glutamate receptor, ionotropic, N-methyl D-aspartate 1
9q34.3
Functional
3
Yes
81
28
Gandal MJ , et al. 2012
Edit
GEN387
GSN
gelsolin
9q33.2
Rare single gene variant
2
5
3
Awadalla P , et al. 2010
Edit
GEN1247
HNRNPK
heterogeneous nuclear ribonucleoprotein K
9q21.32
Syndromic
3
32
11
Gillentine MA et al. 2021
Edit
GEN530
KANK1
KN motif and ankyrin repeat domains 1
9p24.3
Rare single gene variant
2
19
12
Vanzo RJ , et al. 2013
Edit
GEN434
KCNT1
potassium sodium-activated channel subfamily T member 1
9q34.3
Rare single gene variant
2
44
23
Heron SE , et al. 2012
Edit
GEN1043
KDM4C
lysine demethylase 4C
9p24.1
Rare single gene variant
2
14
4
Kushima I , et al. 2018
Edit
GEN144
LAMC3
laminin, gamma 3
9q34.12
Rare Single Gene variant
3
28
12
O'Roak BJ , et al. 2011
Edit
GEN1399
LHX2
LIM homeobox 2
9q33.3
Rare single gene variant
3
19
4
Schmid CM et al. 2023
Edit
GEN272
LMX1B
LIM homeobox transcription factor 1 beta
9q33.3
Genetic association/Functional
2
1
Thanseem I , et al. 2011
Edit
GEN1100
MLANA
melan-A
9p24.1
Rare single gene variant
2
3
4
Iossifov I et al. 2014
Edit
GEN1047
NFIB
nuclear factor I B
9p23-p22.3
Rare single gene variant
3
19
7
Iossifov I et al. 2014
Edit
GEN1428
NOTCH1
notch receptor 1
9q34.3
Rare single gene variant
3
21
10
et al.
Edit
GEN1117
NTNG2
netrin G2
9q34.13
Syndromic
2
Yes
16
6
Abu-Libdeh B , et al. 2019
Edit
GEN986
NTRK2
neurotrophic receptor tyrosine kinase 2
9q21.33
Syndromic
3
23
8
Hamdan FF , et al. 2017
Edit
GEN667
PAX5
Paired box 5
9p13.2
Rare Single Gene variant
4
25
10
Iossifov I , et al. 2012
Edit
GEN651
PHF2
PHD finger protein 2
9q22.31
Rare single gene variant
3
9
8
Iossifov I , et al. 2012
Edit
GEN1015
PNPLA7
patatin like phospholipase domain containing 7
9q34.3
Rare single gene variant
2
11
6
O'Roak BJ , et al. 2012
Edit
GEN942
POMT1
protein O-mannosyltransferase 1
9q34.13
Rare single gene variant
2
17
4
Krumm N , et al. 2015
Edit
GEN310
PRUNE2
prune homolog 2
9q21.2
Rare Single Gene variant
3
15
12
Vaags AK , et al. 2012
Edit
GEN940
RFX3
regulatory factor X3
9p24.2
Rare single gene variant
4
31
11
De Rubeis S , et al. 2014
Edit
GEN960
RNF38
ring finger protein 38
9p13.2
Rare single gene variant
2
2
2
Sanders SJ , et al. 2012
Edit
GEN1138
RORB
RAR related orphan receptor B
9q21.13
Functional
4
56
15
Iossifov I et al. 2014
Edit
GEN1265
RUSC2
RUN and SH3 domain containing 2
9p13.3
Rare single gene variant
3
18
5
Wilfert AB et al. 2021
Edit
GEN1057
SET
SETnuclear proto-oncogene
9q34.11
Rare single gene variant
3
12
6
C Yuen RK et al. 2017
Edit
GEN231
SLC1A1
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
9p24.2
Genetic association
2
Yes
15
14
Brune CW , et al. 2009
Edit
GEN506
SLC24A2
solute carrier family 24 member 2
9p22.1
Rare single gene variant
2
3
4
Prasad A , et al. 2013
Edit
GEN784
SLC27A4
Solute carrier family 27 (fatty acid transporter), member 4
9q34.11
Rare single gene variant, genetic association
2
5
3
Maekawa M , et al. 2015
Edit
GEN731
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
9p24.3
Genetic association/functional
3
45
29
Wolff D , et al. 2012
Edit
GEN390
STXBP1
Syntaxin binding protein 1
9q34.11
Syndromic
5
323
75
Campbell IM , et al. 2012
Edit
GEN247
TAF1L
TAF1 RNA polymerase II
9p21.1
Rare Single Gene variant
2
9
6
O'Roak BJ , et al. 2011
Edit
GEN1168
TEK
TEKreceptortyrosine kinase
9p21.2
Rare single gene variant
2
5
3
Satterstrom FK et al. 2020
Edit
GEN1142
TRIM32
tripartite motif containing 32
9q33.1
Rare single gene variant/multigenic CNV
0
30
5
Zhu JW , et al. 2019
Edit
GEN1385
TRPM3
transient receptor potential cation channel subfamily M member 3
9q21.12
Rare single gene variant
3
37
14
Dyment DA et al. 2019
Edit
GEN1332
TRPM6
transient receptor potential cation channel subfamily M member 6
9q21.13
Rare single gene variant
3
13
6
Iossifov I et al. 2014
Edit
GEN255
TSC1
tuberous sclerosis 1
9q34.13
Rare Single Gene variant
4
53
37
Smalley SL 1998
Edit
GEN1418
VCP
valosin containing protein
9p13.3
Rare single gene variant
3
16
4
et al.
Edit
GEN787
VLDLR
Very low density lipoprotein receptor
9p24.2
Functional
2
8
6
Fatemi SH , et al. 2005
Edit
GEN1368
WDR5
WD repeat domain 5
9q34.2
Rare single gene variant
2
14
3
Snijders Blok L et al. 2022
Edit
GEN729
ZNF462
Zinc finger protein 462
9q31.2
Rare single gene variant
4
36
13
De Rubeis S , et al. 2014
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
9
9p11.1
Duplication
1
9
9p11.2
Deletion
5
9
9p11.2-p11.1
Duplication
1
9
9p11.2-q12
Deletion
1
9
9p12
Deletion
1
9
9p13.1
Deletion
4
9
9p13.1-p12
Deletion-Duplication
3
9
9p13.1-q13
Duplication
1
9
9p13.2
Duplication
7
9
9p13.3
Deletion-Duplication
12
9
9p13.3-p13.1
Deletion
2
9
9p13.3-q21.31
Duplication
1
9
9p21.1
Deletion-Duplication
16
9
9p21.1-p11.2
Duplication
1
9
9p21.1-p13.1
Duplication
2
9
9p21.1-p13.3
Duplication
2
9
9p21.2
Deletion
7
9
9p21.3
Deletion-Duplication
16
9
9p21.3-p21.2
Deletion
4
9
9p22.1
Duplication
9
9
9p22.1-p21.2
Deletion
2
9
9p22.1-p21.3
Deletion
3
9
9p22.2
Deletion-Duplication
7
9
9p22.2-p22.1
Duplication
3
9
9p22.3
Deletion-Duplication
11
9
9p22.3-p22.2
Duplication
1
9
9p22.3-q12
N/A
1
9
9p23
Deletion-Duplication
28
9
9p23-p13.3
Duplication
1
9
9p23-p21.1
Duplication
1
9
9p23-p21.2
Duplication
1
9
9p23-p22.2
Deletion
3
9
9p23-p22.3
Deletion
4
9
9p24
Deletion
2
9
9p24.1
Deletion-Duplication
32
9
9p24.1-p23
Duplication
3
9
9p24.2
Deletion-Duplication
14
9
9p24.2-p24.1
Duplication
3
9
9p24.3
Deletion-Duplication
40
9
9p24.3-p13.1
Duplication
7
9
9p24.3-p13.3
Duplication
3
9
9p24.3-p21.3
Duplication
2
9
9p24.3-p22.1
Duplication
4
9
9p24.3-p22.2
Deletion
3
9
9p24.3-p22.3
N/A
5
9
9p24.3-p23
Deletion
10
9
9p24.3-p24.1
Deletion
7
9
9p24.3-p24.2
Deletion-Duplication
13
9
9p24.3-q21.11
Duplication
3
9
9p24.3-q34.3
Duplication
1
9
9q12
Deletion-Duplication
3
9
9q13
Deletion
4
9
9q13-q21.11
Deletion
1
9
9q13-q21.13
Deletion
2
9
9q13-q21.31
Deletion
1
9
9q21.11
Deletion-Duplication
7
9
9q21.11-q21.12
Deletion
4
9
9q21.11-q21.13
Deletion
2
9
9q21.11-q21.2
Deletion
4
9
9q21.11-q21.31
Deletion
1
9
9q21.12
Deletion-Duplication
3
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
9q21.31
Deletion
6
9
9q21.31-q21.32
Duplication
1
9
9q21.32
Deletion-Duplication
5
9
9q21.32-q21.33
Duplication
2
9
9q21.33
Deletion-Duplication
7
9
9q21.33-q22.2
Deletion
1
9
9q22.1
Deletion
4
9
9q22.1-q32
Duplication
1
9
9q22.2
Deletion
3
9
9q22.3
Duplication
2
9
9q22.31
Deletion-Duplication
10
9
9q22.31-q22.32
Duplication
3
9
9q22.31-q22.33
Deletion-Duplication
1
9
9q22.32
Deletion
8
9
9q22.32-q22.33
Duplication
1
9
9q22.32-q31.1
Duplication
1
9
9q22.32-q31.2
Duplication
1
9
9q22.33
Deletion-Duplication
7
9
9q22.33-q31.1
Deletion
1
9
9q22.33-q33.1
Deletion
2
9
9q31.1
Deletion-Duplication
20
9
9q31.1-q31.3
N/A
2
9
9q31.2
Deletion-Duplication
8
9
9q31.2-q33.1
Deletion
1
9
9q31.3
Deletion-Duplication
7
9
9q32
Deletion-Duplication
21
9
9q33.1
Deletion-Duplication
30
9
9q33.1-q33.2
Duplication
1
9
9q33.1-q34.12
Deletion
1
9
9q33.2
Deletion-Duplication
10
9
9q33.2-q33.3
Duplication
2
9
9q33.2-q34.3
Duplication
1
9
9q33.3
Deletion-Duplication
6
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
Deletion-Duplication
12
9
9q34.2-q34.3
Deletion-Duplication
9
9
9q34.3
Deletion-Duplication
45
9
9q34.4
Deletion
1
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
Trim32
Tripartite motif-containing 32
Mus musculus
Zhu JW , et al. 2019
2
4
Ntng2
Netrin G2
Mus musculus
Unknown
Nishimura-Akiyoshi S , et al. 2007
1
1
Grin1
glutamate receptor, ionotropic, NMDA1 (zeta 1)
Mus musculus
Gandal MJ , et al. 2012
3
7
cac
cacophony
Drosophila melanogaster
Tong H , et al. 2016
1
4
Galphaq
G protein alpha q subunit
Drosophila melanogaster
Park SM , et al. 2017
1
2
Stxbp1
syntaxin binding protein 1
Mus musculus
Human 9q34.11
Kovacevic J , et al. 2018
1
6
G9a
G9a
Drosophila melanogaster
Kramer JM , et al. 2011
2
14
Rorb
RAR-related orphan receptor beta
Mus musculus
et al.
1
2
Vcp
valosin containing protein
Mus musculus
et al.
1
4
Brinp1
BMP/RA-inducible neural-specific protein 1
Mus musculus
Unknown
Berkowicz SR , et al. 2016
2
3
LanB2
Laminin B2
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
PAX5
Paired box 5
Mus musculus
Urbánek P et al. 1994
2
4
Vldlr
very low density lipoprotein receptor
Rattus norvegicus
Unknown
Iwata K , et al. 2012
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
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
ANXA1
annexin A1
55
ASTN2
astrotactin 2
4
DAPK1
death-associated protein kinase 1
4
EHMT1
euchromatic histone-lysine N-methyltransferase 1
5013
ELAVL2
ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)
167
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
65
KCNT1
potassium channel, subfamily T, member 1
3
LMX1B
LIM homeobox transcription factor 1, beta
27
PHF2
PHD finger protein 2
5
SLC1A1
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
38
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
24
TSC1
tuberous sclerosis 1
118
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