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Gene
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
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
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
18
18p11.2-q11.1
Duplication
1
18
18p11.21
Deletion-Duplication
15
18
18p11.22
Deletion-Duplication
9
18
18p11.22-p11.21
Duplication
4
18
18p11.23
Deletion
4
18
18p11.23-p11.22
Duplication
1
18
18p11.3
Duplication
1
18
18p11.31
Deletion-Duplication
14
18
18p11.31-p11.21
Duplication
2
18
18p11.31-p11.22
Deletion
3
18
18p11.31-p11.23
Duplication
11
18
18p11.32
Deletion-Duplication
21
18
18p11.32-p11.21
Duplication
11
18
18p11.32-p11.22
Deletion
2
18
18p11.32-p11.23
Deletion
3
18
18p11.32-p11.31
Deletion-Duplication
11
18
18p11.32-q11.1
Duplication
2
18
18p11.32-q23
Duplication
2
18
18pter-p11.32
Deletion
1
18
18q11.1
Duplication
4
18
18q11.1-q11.2
Duplication
1
18
18q11.1-q12.1
Duplication
1
18
18q11.1-q23
Duplication
2
18
18q11.2
Deletion-Duplication
13
18
18q11.2-q12.1
Duplication
1
18
18q11.2-q12.2
Deletion
1
18
18q12
Deletion
1
18
18q12.1
Deletion-Duplication
17
18
18q12.1-q12.2
Deletion
3
18
18q12.1-q12.3
Deletion-Duplication
1
18
18q12.1-q22.1
Duplication
1
18
18q12.11
Duplication
1
18
18q12.2
Deletion-Duplication
19
18
18q12.2-q12.3
Deletion
2
18
18q12.2-q21.1
Deletion
2
18
18q12.3
Deletion-Duplication
16
18
18q12.3-q21.1
N/A
3
18
18q21.1
Deletion-Duplication
16
18
18q21.1-q23
Duplication
2
18
18q21.2
Deletion-Duplication
14
18
18q21.2-q21.31
Deletion
2
18
18q21.2-q21.32
Duplication
1
18
18q21.2-q22.1
Deletion
2
18
18q21.2-q23
Deletion
5
18
18q21.31
Deletion-Duplication
10
18
18q21.31-q21.32
Duplication
2
18
18q21.31-q23
Deletion
4
18
18q21.32
Deletion-Duplication
10
18
18q21.32-q21.33
Deletion
2
18
18q21.32-q23
Deletion
8
18
18q21.33
Deletion-Duplication
5
18
18q21.33-q23
Deletion-Duplication
5
18
18q22.1
Deletion-Duplication
22
18
18q22.1-q22.2
Deletion
6
18
18q22.1-q23
Deletion-Duplication
8
18
18q22.2
Deletion-Duplication
8
18
18q22.2-q22.3
Duplication
2
18
18q22.2-q23
Deletion
3
18
18q22.2-qter
Deletion
1
18
18q22.3
Deletion-Duplication
18
18
18q22.3-q23
Deletion-Duplication
5
18
18q22.3-qter
Deletion
1
18
18q23
Deletion-Duplication
23
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
Celf4
CUGBP, Elav-like family member 4
Mus musculus
Wagnon JL , et al. 2011
2
7
Dlgap1
DLG associated protein 1
Mus musculus
Coba MP , et al. 2018
2
4
Mbd2
methyl-CpG binding domain protein 2
Mus musculus
Unknown
Hendrich B , et al. 2001
1
2
da
daughterless
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Tcf4
transcription factor 4
Mus musculus
Kennedy AJ , et al. 2016
3
7
Tcf4
transcription factor 4
Rattus norvegicus
Rannals MD , et al. 2016
2
5
Tshz1
teashirt zinc finger family member 1
Mus musculus
Kuerbitz J et al. 2018
1
3
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
ASXL3
additional sex combs like 3 (Drosophila)
2
KATNAL2
katanin p60 subunit A-like 2
3
MBD1
methyl-CpG binding domain protein 1
32
MC4R
melanocortin 4 receptor
1
MIB1
mindbomb E3 ubiquitin protein ligase 1
364
SETBP1
SET binding protein 1
17
TCF4
transcription factor 4
167
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