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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
GEN337
BRCA2
breast cancer 2, early onset
13q13.1
Rare Single Gene variant
2
13
8
Neale BM , et al. 2012
Edit
GEN1081
CDK8
cyclin dependent kinase 8
13q12.13
Syndromic
3
18
5
Calpena E , et al. 2019
Edit
GEN1134
CHAMP1
chromosome alignment maintaining phosphoprotein 1
13q34
Syndromic
4
48
17
Hempel M , et al. 2015
Edit
GEN064
DIAPH3
Diaphanous-related formin 3
13q21.2
Rare Single Gene variant
2
Yes
11
16
Vorstman JA , et al. 2010
Edit
GEN1199
FGF14
fibroblast growth factor 14
13q33.1
Rare single gene variant
0
8
2
Trost B et al. 2020
Edit
GEN092
FLT1
fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)
13q12.3
Functional
2
5
6
Hu VW , et al. 2006
Edit
GEN1323
GPC5
glypican 5
13q31.3
Rare single gene variant
4
31
9
Iossifov I et al. 2014
Edit
GEN106
GPC6
glypican 6
13q31.3-q32.1
Rare Single Gene variant
14
8
Pinto D , et al. 2010
Edit
GEN128
HTR2A
5-hydroxytryptamine (serotonin) receptor 2A
13q14.2
Genetic Association
2
13
11
Veenstra-VanderWeele J , et al. 2002
Edit
GEN755
INTS6
Integrator complex subunit 6
13q14.3
Rare single gene variant
3
4
6
Iossifov I et al. 2014
Edit
GEN904
KATNAL1
katanin catalytic subunit A1 like 1
13q12.3
Rare single gene variant
2
3
4
C Yuen RK et al. 2017
Edit
GEN1362
MYCBP2
MYC binding protein 2
13q22.3
Rare single gene variant
4
29
9
De Rubeis S , et al. 2014
Edit
GEN164
MYO16
myosin XVI
13q33.3
Genetic Association
2
19
10
Wang K , et al. 2009
Edit
GEN166
NBEA
neurobeachin
13q13.3
Rare single gene variant
4
38
26
Castermans D , et al. 2003
Edit
GEN857
PCCA
propionyl-CoA carboxylase alpha subunit
13q32.3
Syndromic
2
22
13
Al-Owain M , et al. 2013
Edit
GEN324
PCDH8
protocadherin 8
13q14.3
Rare Single Gene variant
2
2
2
Leblond CS , et al. 2012
Edit
GEN191
PCDH9
protocadherin 9
13q21.32
Rare Single Gene variant
2
13
11
Marshall CR , et al. 2008
Edit
GEN1419
SACS
sacsin molecular chaperone
13q12.12
Rare single gene variant
3
10
7
et al.
Edit
GEN461
SETDB2
SET domain, bifurcated 2
13q14.2
Syndromic
3
11
3
Cukier HN , et al. 2012
Edit
GEN558
SLITRK5
SLIT and NTRK like family member 5
13q31.2
Functional
3
12
10
Shmelkov SV , et al. 2010
Edit
GEN1356
SPRY2
sprouty RTK signaling antagonist 2
13q31.1
Functional
3
3
3
Zhou X et al. 2022
Edit
GEN1433
TRPC4
transient receptor potential cation channel subfamily C member 4
13q13.3
Genetic association
2
4
5
et al.
Edit
GEN1226
ZMYM2
zinc finger MYM-type containing 2
13q12.11
Rare single gene variant
3
46
10
Connaughton DM et al. 2020
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
13
13q11-q12.11
Duplication
3
13
13q11-q13.3
Duplication
1
13
13q11-q21.1
Deletion
1
13
13q11-q34
Duplication
1
13
13q12.11
Deletion-Duplication
20
13
13q12.11-q12.12
Deletion-Duplication
3
13
13q12.11-q12.3
Duplication
2
13
13q12.11-q21.1
N/A
1
13
13q12.11-q21.2
Deletion
1
13
13q12.11-q34
Duplication
2
13
13q12.12
Deletion-Duplication
24
13
13q12.13
Deletion
8
13
13q12.3
Deletion-Duplication
6
13
13q12.3-q13.1
Deletion
2
13
13q12.3-q13.2
Deletion
2
13
13q12.3-q21.33
Deletion
1
13
13q12.3-q31.1
Duplication
1
13
13q12.3-q31.3
Duplication
1
13
13q13.1
Deletion
6
13
13q13.1-q13.2
Duplication
2
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
1
13
13q14.2
Deletion-Duplication
13
13
13q14.2-q21.2
Deletion
1
13
13q14.3
Deletion-Duplication
11
13
13q14.3-q21.1
Duplication
1
13
13q14.3-q21.31
Deletion
1
13
13q21.1
Deletion-Duplication
18
13
13q21.1-q21.2
Deletion
1
13
13q21.1-q34
N/A
1
13
13q21.2
Deletion-Duplication
11
13
13q21.31-q31.3
Deletion
1
13
13q21.32
Deletion-Duplication
15
13
13q21.33-q31.1
Duplication
2
13
13q22.1-q34
Duplication
1
13
13q22.2-q31.3
Deletion
1
13
13q22.3
Deletion
3
13
13q31.1
Deletion-Duplication
15
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
13
13q31.2-q31.3
Duplication
6
13
13q31.2-q32.1
Deletion
1
13
13q31.2-q32.3
Deletion
1
13
13q31.3
Deletion-Duplication
15
13
13q31.3-q32.1
Deletion-Duplication
2
13
13q31.3-q32.3
Duplication
1
13
13q31.3-q33.1
Duplication
1
13
13q31.3-q34
Deletion
1
13
13q32.1
Deletion-Duplication
10
13
13q32.1-q32.3
Duplication
1
13
13q32.1-q33.3
Deletion
1
13
13q32.2-q32.3
Deletion-Duplication
4
13
13q32.3
Deletion
4
13
13q32.3-q33.1
Deletion-Duplication
1
13
13q32.3-q33.3
Duplication
1
13
13q32.3-q34
Deletion-Duplication
2
13
13q33.1
Deletion-Duplication
8
13
13q33.1-q34
Deletion
6
13
13q33.2-q34
Deletion-Duplication
3
13
13q33.3
Deletion-Duplication
2
13
13q33.3-q34
Deletion-Duplication
3
13
13q33.3-qter
Deletion
1
13
13q34
Deletion-Duplication
25
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
Mus musculus
Unknown
Weisstaub NV , et al. 2006
2
4
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
Slitrk5
SLIT and NTRK-like family, member 5
Mus musculus
Shmelkov SV , et al. 2010
1
2
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
BRCA2
breast cancer 2, early onset
84
HTR2A
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
3
NBEA
neurobeachin
120
PCDH9
protocadherin 9
7
SLITRK5
SLIT and NTRK-like protein 5
7
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