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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
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


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
13
Duplication
 3
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 20
 
 
13
Deletion-Duplication
 3
 
 
13
Duplication
 2
 
 
13
N/A
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 2
 
 
13
Deletion-Duplication
 24
 
 
13
Deletion
 8
 
 
13
Deletion-Duplication
 6
 
 
13
Deletion
 2
 
 
13
Deletion
 2
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 6
 
 
13
Duplication
 2
 
 
13
Deletion-Duplication
 6
 
 
13
Duplication
 2
 
 
13
Duplication
 1
 
 
13
Deletion
 13
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 13
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 11
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 18
 
 
13
Deletion
 1
 
 
13
N/A
 1
 
 
13
Deletion-Duplication
 11
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 15
 
 
13
Duplication
 2
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 3
 
 
13
Deletion-Duplication
 15
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 7
 
 
13
Duplication
 6
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 15
 
 
13
Deletion-Duplication
 2
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 10
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 4
 
 
13
Deletion
 4
 
 
13
Deletion-Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 8
 
 
13
Deletion
 6
 
 
13
Deletion-Duplication
 3
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 3
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 25
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Htr2a
 5-hydroxytryptamine (serotonin) receptor 2A
 Mus musculus
 Unknown
 2
 4
 
  nbeaa
 neurobeachin
 Danio rerio
 13q13.3
 1
 10
 
  rg
 rugose
 Drosophila melanogaster
 13q13.3
 1
 13
 
  Nbea
 neurobeachin
 Mus musculus
 Unknown
 3
 3
 
 SLIT and NTRK-like family, member 5
 Mus musculus
 
 1
 2

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
breast cancer 2, early onset
84
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
3
neurobeachin
120
protocadherin 9
7
SLIT and NTRK-like protein 5
7
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