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Human Gene Search Results


Unique ID Gene Symbol Gene Name Chromosome Loc Genetic Category Gene Ranking Biallelic # of Variants Associated Disorders # of Reports Primary Reference Display
GEN609 ANXA1 Annexin A1 9q21.13 Rare single gene variant
3
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
3
29 13 Glessner JT , et al. 2009 Edit
GEN820 BRINP1 BMP/retinoic acid inducible neural specific 1 9q33.1 Functional
0 2 Kobayashi M , et al. 2014 Edit
GEN408 CACNA1B calcium voltage-gated channel subunit alpha1 B 9q34.3 Genetic association
2
22 9 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
GEN307 CNTNAP3 contactin associated protein-like 3 9p12 Rare Single Gene variant
3
7 5 Vaags AK , et al. 2012 Edit
GEN801 CYLC2 cylicin, basic protein of sperm head cytoskeleton 2 9q31.1 Rare single gene variant
0
2 3 Levy D , et al. 2011 Edit
GEN058 DAPK1 death-associated protein kinase 1 9q21.33 Functional
2
4 5 Hu VW , et al. 2006 Edit
GEN853 DOCK8 dedicator of cytokinesis 8 9p24.3 Rare single gene variant
3
25 9 De Rubeis S , et al. 2014 Edit
GEN557 DOLK dolichol kinase 9q34.11 Syndromic
2
Yes 2 2 Helander A , et al. 2013 Edit
GEN344 EHMT1 Euchromatic histone-lysine N-methyltransferase 1 9q34.3 Syndromic
3
25 23 Talkowski ME , et al. 2012 Edit
GEN826 ELAVL2 ELAV like neuron-specific RNA binding protein 2 9p21.3 Rare single gene variant
2
5 5 Iossifov I , et al. 2014 Edit
GEN1010 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 9q22.33 Functional
4
9 10 EuroEPINOMICS-RES Consortium , et al. 2014 Edit
GEN682 GDA guanine deaminase 9q21.13 Rare single gene variant
0
2 2 Li J , et al. 2015 Edit
GEN347 GNA14 Guanine nucleotide binding protein (G protein), alpha 14 9q21.2 Rare Single Gene variant
2
1 1 Talkowski ME , et al. 2012 Edit
GEN626 GRIN1 Glutamate receptor, ionotropic, N-methyl D-aspartate 1 9q34.3 Functional
3
Yes 48 17 Gandal MJ , et al. 2012 Edit
GEN387 GSN gelsolin 9q33.2 Rare single gene variant
2
3 2 Awadalla P , et al. 2010 Edit
GEN530 KANK1 KN motif and ankyrin repeat domains 1 9p24.3 Rare single gene variant
2
14 9 Vanzo RJ , et al. 2013 Edit
GEN434 KCNT1 potassium sodium-activated channel subfamily T member 1 9q34.3 Rare single gene variant
0
24 11 Heron SE , et al. 2012 Edit
GEN1043 KDM4C lysine demethylase 4C 9p24.1 Rare single gene variant
2
9 1 Kushima I , et al. 2018 Edit
GEN144 LAMC3 laminin, gamma 3 9q34.12 Rare Single Gene variant
4
24 10 O'Roak BJ , et al. 2011 Edit
GEN272 LMX1B LIM homeobox transcription factor 1 beta 9q33.3 Genetic association/Functional
0
2 1 Thanseem I , et al. 2011 Edit
GEN1100 MLANA melan-A 9p24.1 Rare single gene variant
2
2 3 Iossifov I , et al. 2014 Edit
GEN1047 NFIB nuclear factor I B 9p23-p22.3 Rare single gene variant
3
16 4 Iossifov I , et al. 2014 Edit
GEN1117 NTNG2 netrin G2 9q34.13 Syndromic
0
4 1 Abu-Libdeh B , et al. 2019 Edit
GEN986 NTRK2 neurotrophic receptor tyrosine kinase 2 9q21.33 Syndromic
2
12 3 Hamdan FF , et al. 2017 Edit
GEN667 PAX5 Paired box 5 9p13.2 Rare Single Gene variant
3
4 5 Iossifov I , et al. 2012 Edit
GEN651 PHF2 PHD finger protein 2 9q22.31 Rare single gene variant
3
6 5 Iossifov I , et al. 2012 Edit
GEN1015 PNPLA7 patatin like phospholipase domain containing 7 9q34.3 Rare single gene variant
3
5 3 O'Roak BJ , et al. 2012 Edit
GEN942 POMT1 protein O-mannosyltransferase 1 9q34.13 Rare single gene variant
2
13 2 Krumm N , et al. 2015 Edit
GEN310 PRUNE2 prune homolog 2 9q21.2 Rare Single Gene variant
3
9 7 Vaags AK , et al. 2012 Edit
GEN940 RFX3 regulatory factor X3 9p24.2 Rare single gene variant
3
5 5 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
GEN1057 SET SETnuclear proto-oncogene 9q34.11 Rare single gene variant
3
10 4 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 14 12 Brune CW , et al. 2009 Edit
GEN506 SLC24A2 solute carrier family 24 member 2 9p22.1 Rare single gene variant
2
2 3 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
3 1 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
22 16 Wolff D , et al. 2012 Edit
GEN390 STXBP1 Syntaxin binding protein 1 9q34.11 Syndromic
4
147 40 Campbell IM , et al. 2012 Edit
GEN247 TAF1L TAF1 RNA polymerase II 9p21.1 Rare Single Gene variant
2
2 4 O'Roak BJ , et al. 2011 Edit
GEN255 TSC1 tuberous sclerosis 1 9q34.13 Rare Single Gene variant
4
36 20 Smalley SL 1998 Edit
GEN787 VLDLR Very low density lipoprotein receptor 9p24.2 Functional
0 3 Fatemi SH , et al. 2005 Edit
GEN729 ZNF462 Zinc finger protein 462 9q31.2 Rare single gene variant
4
26 9 De Rubeis S , et al. 2014 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
9
Duplication
 1
 
 
9
Deletion
 5
 
 
9
Duplication
 1
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Deletion
 4
 
 
9
Deletion-Duplication
 3
 
 
9
Duplication
 1
 
 
9
Duplication
 7
 
 
9
Deletion-Duplication
 12
 
 
9
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 16
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 7
 
 
9
Deletion-Duplication
 14
 
 
9
Deletion
 4
 
 
9
Duplication
 9
 
 
9
Deletion
 1
 
 
9
Deletion
 2
 
 
9
Deletion-Duplication
 7
 
 
9
Duplication
 3
 
 
9
Deletion-Duplication
 11
 
 
9
Duplication
 1
 
 
9
N/A
 1
 
 
9
Deletion-Duplication
 27
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 2
 
 
9
Deletion
 3
 
 
9
Deletion
 2
 
 
9
Deletion-Duplication
 27
 
 
9
Duplication
 2
 
 
9
Deletion-Duplication
 13
 
 
9
Duplication
 2
 
 
9
Deletion-Duplication
 29
 
 
9
Duplication
 5
 
 
9
Duplication
 3
 
 
9
Duplication
 1
 
 
9
Duplication
 3
 
 
9
Deletion
 2
 
 
9
N/A
 3
 
 
9
Deletion
 6
 
 
9
Deletion
 4
 
 
9
Deletion-Duplication
 10
 
 
9
Duplication
 2
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 3
 
 
9
Deletion
 4
 
 
9
Deletion
 1
 
 
9
Deletion
 2
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 7
 
 
9
Deletion
 4
 
 
9
Deletion
 2
 
 
9
Deletion
 4
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 3
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 12
 
 
9
Deletion
 1
 
 
9
Deletion
 2
 
 
9
N/A
 2
 
 
9
Deletion
 5
 
 
9
Deletion
 6
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 5
 
 
9
Duplication
 2
 
 
9
Deletion-Duplication
 7
 
 
9
Deletion
 1
 
 
9
Deletion
 4
 
 
9
Duplication
 1
 
 
9
Deletion
 3
 
 
9
Duplication
 2
 
 
9
Deletion-Duplication
 10
 
 
9
Duplication
 3
 
 
9
Deletion-Duplication
 1
 
 
9
Deletion
 8
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 7
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 20
 
 
9
N/A
 1
 
 
9
Deletion-Duplication
 8
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 7
 
 
9
Deletion-Duplication
 21
 
 
9
Deletion-Duplication
 19
 
 
9
Duplication
 1
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 10
 
 
9
Duplication
 2
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 5
 
 
9
Deletion
 4
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 12
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 3
 
 
9
Deletion-Duplication
 9
 
 
9
N/A
 2
 
 
9
Duplication
 2
 
 
9
Deletion-Duplication
 12
 
 
9
Deletion-Duplication
 9
 
 
9
Deletion-Duplication
 37
 
 
9
Deletion
 1
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Brinp1
 BMP/RA-inducible neural-specific protein 1
 Mus musculus
 Unknown
 2
 4
 
  cac
 cacophony
 Drosophila melanogaster
 
 1
 4
 
  G9a
 G9a
 Drosophila melanogaster
 
 2
 14
 
 G protein alpha q subunit
 Drosophila melanogaster
 
 1
 2
 
  Grin1
 glutamate receptor, ionotropic, NMDA1 (zeta 1)
 Mus musculus
 
 3
 7
 
  LanB2
 Laminin B2
 Drosophila melanogaster
 
 1
 2
 
  Ntng2
 Netrin G2
 Mus musculus
 Unknown
 1
 1
 
  Stxbp1
 syntaxin binding protein 1
 Mus musculus
 Human 9q34.11
 1
 6
 
  Tsc1
 Tsc1
 Drosophila melanogaster
 
 2
 11
 
  Tsc1
 Tuberous sclerosis 1
 Mus musculus
 Unknown
 12
 32
 
  Vldlr
 very low density lipoprotein receptor
 Rattus norvegicus
 Unknown
 1
 1

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
annexin A1
55
astrotactin 2
4
death-associated protein kinase 1
4
euchromatic histone-lysine N-methyltransferase 1
5013
ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)
167
glutamate receptor, ionotropic, N-methyl D-aspartate 1
65
potassium channel, subfamily T, member 1
3
LIM homeobox transcription factor 1, beta
27
PHD finger protein 2
5
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
38
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
24
tuberous sclerosis 1
118
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