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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
GEN577 ASXL3 Additional sex combs like 3 (Drosophila) 18q12.1 Syndromic
5
109 50 Dinwiddie DL , et al. 2013 Edit
GEN025 BCL2 B-cell CLL/lymphoma 2 18q21.33 Functional
0 10 Nguyen A , et al. 2010 Edit
GEN1403 CDH2 cadherin 2 18q12.1 Rare single gene variant
3
14 8 Miyake N et al. 2023 Edit
GEN487 CELF4 CUGBP, Elav-like family member 4 18q12.2 Functional
3
15 15 Halgren C , et al. 2012 Edit
GEN1193 DCC DCCnetrin 1 receptor 18q21.2 Genetic association
2
7 6 Wu Y et al. 2020 Edit
GEN677 DLGAP1 DLG associated protein 1 18p11.31 Rare single gene variant
3
18 13 Li J , et al. 2015 Edit
GEN1252 ELP2 elongator acetyltransferase complex subunit 2 18q12.2 Syndromic
Yes 17 6 Cohen JS et al. 2015 Edit
GEN315 FBXO15 F-box protein 15 18q22.3 Rare Single Gene variant
2
6 5 Christian SL , et al. 2008 Edit
GEN369 KATNAL2 Katanin p60 subunit A-like 2 18q21.1 Rare Single Gene variant
3
55 15 Sanders SJ , et al. 2012 Edit
GEN403 LAMA1 Laminin, alpha 1 18p11.31 Genetic association
3
19 12 Anney R , et al. 2012 Edit
GEN152 MBD1 methyl-CpG binding domain protein 1 18q21.1 Rare Single Gene variant
2
13 8 Li H , et al. 2005 Edit
GEN551 MC4R Melanocortin 4 receptor 18q21.32 Functional
0 4 Xu P , et al. 2013 Edit
GEN660 MIB1 Mindbomb E3 ubiquitin protein ligase 1 18q11.2 Rare single gene variant
3
31 10 De Rubeis S , et al. 2014 Edit
GEN746 MOCOS Molybdenum cofactor sulfurase 18q12.2 Rare single gene variant
2
7 7 Fron F , et al. 2015 Edit
GEN1388 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 18q21.33 Rare single gene variant
2
9 5 Wilfert AB et al. 2021 Edit
GEN815 RIT2 Ras-like without CAAX 2 18q12.3 Genetic association
6 3 Liu X , et al. 2015 Edit
GEN640 SETBP1 SET binding protein 1 18q12.3 Rare single gene variant
4
99 32 O'Roak BJ , et al. 2012 Edit
GEN916 SMAD4 SMAD family member 4 18q21.2 Rare single gene variant
3
14 11 Iossifov I et al. 2014 Edit
GEN592 TCF4 Transcription factor 4 18q21.2 Syndromic
4
79 73 Van Balkom ID , et al. 2012 Edit
GEN1370 TSHZ1 teashirt zinc finger homeobox 1 18q22.3 Syndromic
3
9 6 C Yuen RK et al. 2017 Edit
GEN484 ZNF407 zinc finger protein 407 18q22.3 Rare Single Gene variant
2
24 8 Ren CM , et al. 2012 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
18
Deletion-Duplication
 14
 
 
18
Duplication
 2
 
 
18
Deletion
 3
 
 
18
Duplication
 11
 
 
18
Duplication
 11
 
 
18
Deletion
 2
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 11
 
 
18
Duplication
 2
 
 
18
Duplication
 2
 
 
18
Duplication
 1
 
 
18
Duplication
 1
 
 
18
Duplication
 2
 
 
18
Deletion-Duplication
 13
 
 
18
Duplication
 1
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 17
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 1
 
 
18
Duplication
 1
 
 
18
Deletion-Duplication
 19
 
 
18
Deletion
 2
 
 
18
Deletion-Duplication
 16
 
 
18
N/A
 3
 
 
18
Deletion-Duplication
 16
 
 
18
Duplication
 2
 
 
18
Deletion-Duplication
 14
 
 
18
Deletion
 2
 
 
18
Duplication
 1
 
 
18
Deletion
 2
 
 
18
Deletion
 5
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 4
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 2
 
 
18
Deletion
 8
 
 
18
Deletion-Duplication
 5
 
 
18
Deletion-Duplication
 5
 
 
18
Deletion-Duplication
 8
 
 
18
Deletion
 3
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 18
 
 
18
Deletion-Duplication
 5
 
 
18
Deletion
 1
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Celf4
 CUGBP, Elav-like family member 4
 Mus musculus
 
 2
 7
 
  Dlgap1
 DLG associated protein 1
 Mus musculus
 
 2
 4
 
  da
 daughterless
 Drosophila melanogaster
 
 1
 1
 
  Tcf4
 transcription factor 4
 Mus musculus
 
 3
 7
 
  Tcf4
 transcription factor 4
 Rattus norvegicus
 
 2
 5
 
  Tshz1
 teashirt zinc finger family member 1
 Mus musculus
 
 1
 3

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
additional sex combs like 3 (Drosophila)
2
katanin p60 subunit A-like 2
3
methyl-CpG binding domain protein 1
32
melanocortin 4 receptor
1
mindbomb E3 ubiquitin protein ligase 1
364
SET binding protein 1
17
transcription factor 4
167
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