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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
GEN1002 ARHGAP5 Rho GTPase activating protein 5 14q12 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN735 CCDC88C Coiled-coil domain containing 88C 14q32.11-q32.12 Rare single gene variant
N
6 5 Krumm N , et al. 2015 Edit
GEN657 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) 14q32.32 Rare single gene variant
N
19 6 O'Roak BJ , et al. 2012 Edit
GEN334 CHD8 chromodomain helicase DNA binding protein 8 14q11.2 Rare Single Gene variant
N
77 27 O'Roak BJ , et al. 2012 Edit
GEN888 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 14q32.31 Rare single gene variant
N
14 12 De Rubeis S , et al. 2014 Edit
GEN282 EML1 echinoderm microtubule associated protein like 1 14q32.2 Rare Single Gene variant
N
6 2 Schaaf CP , et al. 2011 Edit
GEN083 ESR2 estrogen receptor 2 (ER beta) 14q23.2-q23.3 Syndromic
N
4 8 Chakrabarti B , et al. 2009 Edit
GEN084 ESRRB estrogen-related receptor beta 14q24.3 Genetic Association
N
3 7 Wang K , et al. 2009 Edit
GEN680 EXOC5 Exocyst complex component 5 14q22.3 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN088 FBXO33 F-box protein 33 14q21.1 Genetic Association
N
2 3 Wang K , et al. 2009 Edit
GEN094 FOXG1 Forkhead box G1 14q12 Syndromic
N
65 24 Kortm F , et al. 2011 Edit
GEN505 GPHN Gephyrin 14q23.3 Rare single gene variant
N
13 8 Prasad A , et al. 2013 Edit
GEN763 IRF2BPL Interferon regulatory factor 2 binding protein-like 14q24.3 Rare single gene variant
N
2 3 Sanders SJ , et al. 2015 Edit
GEN145 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 14q21.1 Genetic Association
N
6 6 Wang K , et al. 2009 Edit
GEN156 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 14q21.3 Genetic Association
N
18 7 Bucan M , et al. 2009 Edit
GEN305 NRXN3 neurexin 3 14q24.3-q31.1 Rare Single Gene variant
N
23 16 Vaags AK , et al. 2012 Edit
GEN1012 PACS2 phosphofurin acidic cluster sorting protein 2 14q32.33 Rare single gene variant
N
15 2 Olson HE , et al. 2018 Edit
GEN457 PRKD1 Protein kinase D1 14q12 Syndromic
N
6 4 Ellaway CJ , et al. 2012 Edit
GEN953 PRPF39 pre-mRNA processing factor 39 14q21.2 Rare single gene variant
N
4 3 De Rubeis S , et al. 2014 Edit
GEN957 SLC7A7 solute carrier family 7 member 7 14q11.2 Rare single gene variant
N
3 2 O'Roak BJ , et al. 2012 Edit
GEN914 TRAPPC6B trafficking protein particle complex 6B 14q21.1 Rare single gene variant
N
4 2 Marin-Valencia I , et al. 2017 Edit
GEN275 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 14q32.12 Rare Single Gene variant
N
Yes 1 1 Najmabadi H , et al. 2011 Edit
GEN976 UNC79 unc-79 homolog, NALCN channel complex subunit 14q32.12 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN263 VASH1 vasohibin 1 14q24.3 Genetic Association
N
2 4 Wang K , et al. 2009 Edit
GEN910 YY1 YY1transcription factor 14q32.2 Functional
N
23 3 Gabriele M , et al. 2017 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 1
 
 
14
Deletion-Duplication
 5
 
 
14
Deletion-Duplication
 41
 
 
14
Duplication
 3
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 19
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 7
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 9
 
 
14
Deletion-Duplication
 4
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 11
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 11
 
 
14
Deletion-Duplication
 6
 
 
14
Deletion-Duplication
 13
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 6
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 7
 
 
14
Deletion
 2
 
 
14
Deletion
 5
 
 
14
Deletion-Duplication
 8
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 16
 
 
14
Deletion
 4
 
 
14
Deletion-Duplication
 18
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 7
 
 
14
Deletion-Duplication
 10
 
 
14
Duplication
 1
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 18
 
 
14
Deletion
 6
 
 
14
Deletion
 14
 
 
14
Deletion
 1
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 6
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 15
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 4
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 6
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 5
 
 
14
Duplication
 1
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 17
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 11
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 4
 
 
14
Duplication
 2
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 28
 
 
14
Deletion
 1
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  chd8
 chromodomain helicase DNA binding protein 8
 Danio rerio
 
 2
 22
 
  kis
 kismet
 Drosophila melanogaster
 
 2
 37
 
  Chd8
 chromodomain helicase DNA binding protein 8
 Mus musculus
 
 6
 16
 
  Esrrb
 Estrogen related receptor, beta
 Mus musculus
 Unknown
 1
 2
 
  Foxg1
 Forkhead box G1
 Mus musculus
 Unknown
 1
 1
 
  Mdga2
 MAM domain containing glycosylphosphatidylinositol anchor 2
 Mus musculus
 
 1
 2
 
 trafficking protein particle complex 6b
 Danio rerio
 
 1
 8

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
CDC42 binding protein kinase beta (DMPK-like)
8
chromodomain helicase DNA binding protein 8
4376
echinoderm microtubule associated protein like 1
11
estrogen receptor 2 (ER beta)
11
exocyst complex component 5
42
F-box protein 33
8
forkhead box G1
34
gephyrin
45
MAM domain containing glycosylphosphatidylinositol anchor 2
1
neurexin 3
34
vasohibin 1
7
Leucine-rich repeat and fibronectin type-III domain-containing protein 5
0
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