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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
GEN590 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 19p13.3 Rare single gene variant
3
11 2 He Z , et al. 2013 Edit
GEN672 ACTN4 actinin alpha 4 19q13.2 Rare single gene variant
2
3 4 Li J , et al. 2015 Edit
GEN713 ARHGAP33 Rho GTPase activating protein 33 19q13.12 Functional
0
1 2 Schuster S , et al. 2015 Edit
GEN829 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19q13.2 Syndromic
3
14 13 Demos MK , et al. 2014 Edit
GEN970 BRD4 bromodomain containing 4 19p13.12 Rare single gene variant
3
7 4 Iossifov I , et al. 2012 Edit
GEN707 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 19p13.13 Rare single gene variant
2
17 11 Damaj L , et al. 2015 Edit
GEN772 CAPN12 Calpain 12 19q13.2 Rare single gene variant
3
28 4 Sanders SJ , et al. 2015 Edit
GEN621 CC2D1A Coiled-coil and C2 domain containing 1A 19p13.12 Rare single gene variant
4
Yes 17 9 Manzini MC , et al. 2014 Edit
GEN882 CIC capicua transcriptional repressor 19q13.2 Rare single gene variant
4
9 4 Iossifov I , et al. 2014 Edit
GEN866 CNOT3 CCR4-NOT transcription complex subunit 3 19q13.42 Rare single gene variant
3
9 3 Deciphering Developmental Disorders Study 2017 Edit
GEN071 DMPK dystrophia myotonica-protein kinase 19q13.32 Syndromic
2
3 7 Ekstrm AB , et al. 2008 Edit
GEN808 EIF3G eukaryotic translation initiation factor 3 subunit G 19p13.2 Rare single gene variant
2
2 3 Iossifov I , et al. 2012 Edit
GEN753 ELAVL3 ELAV like neuron-specific RNA binding protein 3 19p13.2 Rare single gene variant
2
2 3 Iossifov I , et al. 2014 Edit
GEN658 ETFB Electron-transfer-flavoprotein, beta polypeptide 19q13.41 Rare single gene variant
2
10 3 O'Roak BJ , et al. 2012 Edit
GEN742 GADD45B Growth arrest and DNA-damage-inducible, beta 19p13.3 Functional
2
1 4 Garbett K , et al. 2008 Edit
GEN722 GRIK5 Glutamate receptor, ionotropic, kainate 5 19q13.2 Rare single gene variant
3
4 6 De Rubeis S , et al. 2014 Edit
GEN819 KDM4B lysine demethylase 4B 19p13.3 Rare single gene variant
3
10 3 De Rubeis S , et al. 2014 Edit
GEN920 KLF16 Kruppel like factor 16 19p13.3 Rare single gene variant
2
2 1 Lim ET , et al. 2017 Edit
GEN586 KPTN kaptin, actin binding protein 19q13.32 Syndromic
2
7 4 Baple EL , et al. 2013 Edit
GEN968 LILRB2 leukocyte immunoglobulin like receptor B2 19q13.42 Rare single gene variant
2
7 2 Krumm N , et al. 2015 Edit
GEN632 LIN7B lin-7 homolog B, crumbs cell polarity complex component 19q13.33 Multigenic CNV/rare single gene variant
2
2 1 Mizuno M , et al. 2014 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
3
Yes 7 2 Johansen A , et al. 2016 Edit
GEN661 MYO9B Myosin IXB 19p13.11 Rare single gene variant
4
27 3 De Rubeis S , et al. 2014 Edit
GEN868 NACC1 nucleus accumbens associated 1 19p13.13 Rare single gene variant
2
9 3 Schoch K , et al. 2017 Edit
GEN805 NFIX nuclear factor I/X (CCAAT-binding transcription factor) 19p13.13 Syndromic
0
55 7 Malan V , et al. 2010 Edit
GEN1009 NR1H2 nuclear receptor subfamily 1 group H member 2 19q13.33 Functional
0 1 Cai Y , et al. 2018 Edit
GEN183 ODF3L2 outer dense fiber of sperm tails 3-like 2 19p13.3 Rare Single Gene variant
3
11 1 Bucan M , et al. 2009 Edit
GEN311 PDE4A phosphodiesterase 4A 19p13.2 Functional
0
1 2 Braun NN , et al. 2007 Edit
GEN859 PGLYRP2 peptidoglycan recognition protein 2 19p13.12 Rare single gene variant
2
2 3 Arentsen T , et al. 2016 Edit
GEN552 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 19p13.11 Syndromic
2
6 4 Rivire JB , et al. 2012 Edit
GEN371 PLAUR Plasminogen activator, urokinase receptor 19q13.31 Genetic association
0
1 1 Campbell DB , et al. 2009 Edit
GEN1008 PRR12 proline rich 12 19q13.33 Syndromic
3
4 2 Leduc MS , et al. 2018 Edit
GEN503 SAE1 SUMO1 activating enzyme subunit 1 19q13.32 Rare single gene variant
2
6 3 Prasad A , et al. 2013 Edit
GEN340 SHANK1 SH3 and multiple ankyrin repeat domains 1 19q13.33 Rare Single Gene variant
4
35 5 Sato D , et al. 2012 Edit
GEN923 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19p13.2 Syndromic
3
10 6 De Rubeis S , et al. 2014 Edit
GEN341 SYT3 synaptotagmin III 19q13.33 Rare Single Gene variant
0
1 1 Sato D , et al. 2012 Edit
GEN696 THAP8 THAP domain containing 8 19q13.12 Rare single gene variant
2
1 1 Li J , et al. 2015 Edit
GEN850 TSHZ3 teashirt zinc finger homeobox 3 19 Rare single gene variant
0
7 2 Caubit X , et al. 2016 Edit
GEN869 UNC13A unc-13 homolog A 19p13.11 Rare single gene variant
3
5 5 Lipstein N , et al. 2017 Edit
GEN978 VRK3 vaccinia related kinase 3 19q13.33 Functional
0 1 Kang MS , et al. 2017 Edit
GEN875 ZC3H4 zinc finger CCCH-type containing 4 19q13.32 Rare single gene variant
3
4 3 Iossifov I , et al. 2014 Edit
GEN965 ZNF548 zinc finger protein 548 19q13.43 Rare single gene variant
2
9 2 Krumm N , et al. 2015 Edit
GEN773 ZNF559 Zinc finger protein 559 19p13.2 Rare single gene variant
3
18 3 Sanders SJ , et al. 2015 Edit
GEN944 ZNF626 zinc finger protein 626 19p12 Rare single gene variant
2
26 2 Krumm N , et al. 2015 Edit
GEN486 ZNF8 Zinc finger protein 8 19q13.43 Rare single gene variant
0
Yes 1 1 Morrow EM , et al. 2008 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
19
Deletion-Duplication
 25
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 16
 
 
19
Duplication
 1
 
 
19
Deletion
 3
 
 
19
Duplication
 1
 
 
19
Deletion
 4
 
 
19
Duplication
 1
 
 
19
Deletion
 2
 
 
19
Deletion
 1
 
 
19
Deletion-Duplication
 24
 
 
19
Duplication
 2
 
 
19
Deletion-Duplication
 5
 
 
19
Deletion-Duplication
 3
 
 
19
Deletion-Duplication
 28
 
 
19
Duplication
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 9
 
 
19
Deletion-Duplication
 11
 
 
19
Duplication
 2
 
 
19
Deletion
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 17
 
 
19
Deletion
 4
 
 
19
Deletion
 2
 
 
19
Deletion-Duplication
 19
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 2
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 16
 
 
19
Duplication
 1
 
 
19
Duplication
 4
 
 
19
Deletion-Duplication
 19
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
 Rho GTPase activating protein 33
 Mus musculus
 
 1
 6
 
  Atp1a3
 Sodium potassium ATPase alpha 3 subunit
 Mus musculus
 Unknown
 1
 2
 
  Cc2d1a
 Coiled-coil and C2 domain containing 1A
 Mus musculus
 
 2
 10
 
  Cic
 capicua transcriptional repressor
 Mus musculus
 19q13.2
 1
 8
 
  Dmpk
 dystrophia myotonica-protein kinase
 Mus musculus
 Unknown
 1
 2
 
 growth arrest and DNA-damage-inducible 45 beta
 Mus musculus
 
 1
 1
 
 growth arrest and DNA-damage-inducible, beta
 Rattus norvegicus
 
 1
 1
 
  Mbd3
 methyl-CpG binding domain protein 3
 Mus musculus
 Unknown
 1
 1
 
 peptidoglycan recognition protein 2
 Mus musculus
 
 1
 1
 
  Plaur
 plasminogen activator, urokinase receptor
 Mus musculus
 Unknown
 1
 1
 
  Shank1
 SH3/ankyrin domain gene 1
 Mus musculus
 Unknown
 3
 2
 
  Tshz3
 Teashirt zinc finger family member 3
 Mus musculus
 
 1
 2
 
  Vrk3
 vaccinia related kinase 3
 Mus musculus
 19q13.33
 1
 5

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
actinin, alpha 4
8
Rho GTPase-activating protein 33
5
ATPase Na+/K+ transporting subunit alpha 3
9
coiled-coil and C2 domain containing 1A
13
dystrophia myotonica-protein kinase
18
Growth arrest and DNA damage-inducible protein GADD45 beta
17
kaptin (actin binding protein)
30
methyl-CpG binding domain protein 3
47
outer dense fiber of sperm tails 3-like 2
6
plasminogen activator, urokinase receptor
108
SH3 and multiple ankyrin repeat domains 1
20
synaptotagmin III
19
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