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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
GEN002
ADA
adenosine deaminase
20q13.12
Genetic Association
2
6
8
Bottini N , et al. 2001
Edit
GEN471
ADNP
Activity-dependent neuroprotector homeobox
20q13.13
Rare Single Gene variant
5
202
82
O'Roak BJ , et al. 2012
Edit
GEN788
AVP
Arginine vasopressin
20p13
Functional
2
4
Feifel D , et al. 2009
Edit
GEN674
BCAS1
breast carcinoma amplified sequence 1
20q13.2
Rare single gene variant
2
8
5
Li J , et al. 2015
Edit
GEN043
CDH22
cadherin-like 22
20q13.12
Genetic Association
2
4
Wang K , et al. 2009
Edit
GEN1196
CSNK2A1
casein kinase 2 alpha 1
20p13
Rare single gene variant
4
46
17
Iossifov I et al. 2014
Edit
GEN1078
DLGAP4
DLG associated protein 4
20q11.23
Functional
2
4
4
Schob C , et al. 2019
Edit
GEN836
DUSP15
dual specificity phosphatase 15
20q11.21
Rare single gene variant
2
10
7
Tian Y , et al. 2016
Edit
GEN608
EEF1A2
Eukaryotic translation elongation factor 1 alpha 2
20q13.33
Syndromic
3
68
23
Nakajima J , et al. 2014
Edit
GEN105
GNAS
GNAS complex locus
20q13.32
Rare Single Gene variant, Genetic Association
2
14
9
Kim SJ , et al. 2000
Edit
GEN938
KCNB1
potassium voltage-gated channel subfamily B member 1
20q13.13
Rare single gene variant
4
119
28
de Kovel CGF , et al. 2017
Edit
GEN553
KCNQ2
potassium voltage-gated channel subfamily Q member 2
20q13.33
Genetic association
4
129
57
Jiang YH , et al. 2013
Edit
GEN1240
KIZ
kizuna centrosomal protein
20p11.23
Genetic association
1
2
Grove J , et al. 2019
Edit
GEN148
MACROD2
MACRO domain containing 2
20p12.1
Genetic Association
2
19
22
Anney R , et al. 2010
Edit
GEN766
NINL
Ninein-like
20p11.21
Rare single gene variant
2
11
10
Sanders SJ , et al. 2015
Edit
GEN1241
NKX2-2
NK2 homeobox 2
20p11.22
Genetic association
1
2
Grove J , et al. 2019
Edit
GEN828
OXT
oxytocin/neurophysin I prepropeptide
20p13
Genetic association
2
9
5
Ebstein RP , et al. 2009
Edit
GEN316
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
20p12.3
Rare Single Gene variant
2
18
9
Christian SL , et al. 2008
Edit
GEN791
PREX1
Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
20q13.13
Genetic association/Rare single gene variant/Functional
3
11
6
Li J , et al. 2015
Edit
GEN314
PTPRT
protein tyrosine phosphatase, receptor type, T
20q12-q13.11
Rare Single Gene variant
2
13
11
Christian SL , et al. 2008
Edit
GEN951
RAD21L1
RAD21 cohesin complex component like 1
20p13
Rare single gene variant
2
4
3
Iossifov I , et al. 2012
Edit
GEN1054
RALGAPB
Ral GTPase activating protein non-catalytic beta subunit
20q11.23
Rare single gene variant
4
16
6
De Rubeis S , et al. 2014
Edit
GEN1131
RPS10P2-AS1
ribosomal protein S10 pseudogene 2 anti-sense 1
20p12.1
Genetic association
3
4
Anney R , et al. 2010
Edit
GEN783
SLC12A5
Solute carrier family 12 (potassium/chloride transporter), member 5
20q13.12
Rare single gene variant
3
18
9
Merner ND , et al. 2015
Edit
GEN701
SNAP25
Synaptosomal-associated protein, 25kDa
20p12.2
Genetic association
0
10
10
Braida D , et al. 2015
Edit
GEN1064
SNX5
sorting nexin 5
20p11.23
Rare single gene variant
2
4
5
Iossifov I et al. 2014
Edit
GEN1353
TAF4
TATA-box binding protein associated factor 4
20q13.33
Rare single gene variant
4
17
5
Zhou X et al. 2022
Edit
GEN250
TGM3
transglutaminase 3
20p13
Rare Single Gene variant
2
8
9
O'Roak BJ , et al. 2011
Edit
GEN1152
TM9SF4
transmembrane 9 superfamily member 4
20q11.21
Rare single gene variant
2
4
5
De Rubeis S , et al. 2014
Edit
GEN569
TOP1
Topoisomerase (DNA) I
20q12
Rare Single Gene variant
2
3
7
King IF , et al. 2013
Edit
GEN1159
ZMYND8
zinc finger MYND-type containing 8
20q13.12
Rare single gene variant
4
20
8
Iossifov I et al. 2014
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
20
20p11.21
Deletion-Duplication
13
20
20p11.21-p11.1
Duplication
5
20
20p11.22-q11.1
Duplication
1
20
20p11.23
Deletion-Duplication
13
20
20p11.23-p11.21
Deletion
1
20
20p12.1
Deletion-Duplication
43
20
20p12.1-p11.23
Deletion
1
20
20p12.2-q12
Duplication
1
20
20p12.3
Deletion-Duplication
22
20
20p12.3-p12.2
Duplication
4
20
20p13
Deletion-Duplication
33
20
20p13-p11.21
Duplication
1
20
20p13-p11.22
Duplication
1
20
20p13-p11.23
Duplication
1
20
20p13-p12.1
Duplication
3
20
20p13-p12.3
Duplication
1
20
20q11.1-q11.22
Duplication
1
20
20q11.21
Deletion-Duplication
18
20
20q11.21-q11.23
Duplication
1
20
20q11.22-q12
Deletion
1
20
20q11.22-q13.11
Duplication
1
20
20q11.23
Deletion-Duplication
7
20
20q11.23-q12
Duplication
2
20
20q12
Deletion-Duplication
21
20
20q12-q13.11
Duplication
2
20
20q13.11
Deletion-Duplication
2
20
20q13.12
Deletion-Duplication
8
20
20q13.12-q13.33
Duplication
1
20
20q13.13
Deletion-Duplication
14
20
20q13.13-q13.2
Deletion-Duplication
1
20
20q13.13-q13.32
Duplication
1
20
20q13.2
Deletion-Duplication
15
20
20q13.2-q13.33
Duplication
1
20
20q13.31-q13.33
Duplication
1
20
20q13.33
Deletion-Duplication
33
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
Adnp
Activity-dependent neuroprotective protein
Mus musculus
Vulih-Shultzman I , et al. 2007
9
16
Avp
arginine vasopressin
Rattus norvegicus
Feifel D , et al. 2004
1
6
Eef1a2
eukaryotic translation elongation factor 1 alpha 2
Mus musculus
Davies FC , et al. 2017
1
7
Kcnq2
potassium voltage-gated channel, subfamily Q, member 2
Mus musculus
Unknown
Hawkins NA , et al. 2010
1
1
Oxt
oxytocin
Mus musculus
Chromosome 3p25
Ferguson JN , et al. 2000
2
7
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
ADA
adenosine deaminase
13
ADNP
activity-dependent neuroprotector homeobox
51
CDH22
PB-cadherin
1
DUSP15
dual specificity phosphatase 15
2
GNAS
Neuroendocrine secretory protein 55
20
KCNQ2
potassium voltage-gated channel, KQT-like subfamily, member 2
10
MACROD2
MACRO domain containing 2
4
NINL
ninein-like
43
OXT
oxytocin, prepropeptide
8
PREX1
Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein
1
Slc12a5
Solute carrier family 12 member 5
7
SNAP25
Synaptosomal-associated protein 25
15
TOP1
topoisomerase (DNA) I
159
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