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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
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


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
20
Deletion-Duplication
 13
 
 
20
Duplication
 5
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 13
 
 
20
Deletion
 1
 
 
20
Deletion-Duplication
 43
 
 
20
Deletion
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 22
 
 
20
Duplication
 4
 
 
20
Deletion-Duplication
 33
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 3
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 18
 
 
20
Duplication
 1
 
 
20
Deletion
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 7
 
 
20
Duplication
 2
 
 
20
Deletion-Duplication
 21
 
 
20
Duplication
 2
 
 
20
Deletion-Duplication
 2
 
 
20
Deletion-Duplication
 8
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 14
 
 
20
Deletion-Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 15
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 33
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Adnp
 Activity-dependent neuroprotective protein
 Mus musculus
 
 9
 16
 
  Avp
 arginine vasopressin
 Rattus norvegicus
 
 1
 6
 
  Eef1a2
 eukaryotic translation elongation factor 1 alpha 2
 Mus musculus
 
 1
 7
 
  Kcnq2
 potassium voltage-gated channel, subfamily Q, member 2
 Mus musculus
 Unknown
 1
 1
 
  Oxt
 oxytocin
 Mus musculus
 Chromosome 3p25
 2
 7

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
ADA
adenosine deaminase
13
activity-dependent neuroprotector homeobox
51
PB-cadherin
1
dual specificity phosphatase 15
2
Neuroendocrine secretory protein 55
20
potassium voltage-gated channel, KQT-like subfamily, member 2
10
MACRO domain containing 2
4
ninein-like
43
OXT
oxytocin, prepropeptide
8
Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein
1
Solute carrier family 12 member 5
7
Synaptosomal-associated protein 25
15
topoisomerase (DNA) I
159
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