HELP     Sign In

 

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
GEN471 ADNP Activity-dependent neuroprotector homeobox 20q13.13 Rare Single Gene variant
N
47 25 O'Roak BJ , et al. 2012 Edit
GEN788 AVP Arginine vasopressin 20p13 Functional
N
2 4 Feifel D , et al. 2009 Edit
GEN674 BCAS1 Breast carcinoma amplified sequence 1 20q13.2 Rare single gene variant
N
3 2 Li J , et al. 2015 Edit
GEN043 CDH22 cadherin-like 22 20q13.12 Genetic Association
N
2 4 Wang K , et al. 2009 Edit
GEN836 DUSP15 dual specificity phosphatase 15 20q11.21 Rare single gene variant
N
6 3 Tian Y , et al. 2016 Edit
GEN608 EEF1A2 Eukaryotic translation elongation factor 1 alpha 2 20q13.33 Syndromic
N
12 7 Nakajima J , et al. 2014 Edit
GEN105 GNAS GNAS complex locus 20q13.32 Rare Single Gene variant, Genetic Association
N
12 8 Kim SJ , et al. 2000 Edit
GEN938 KCNB1 potassium voltage-gated channel subfamily B member 1 20q13.13 Rare single gene variant
N
34 4 de Kovel CGF , et al. 2017 Edit
GEN553 KCNQ2 potassium voltage-gated channel subfamily Q member 2 20q13.33 Genetic association
N
50 19 Jiang YH , et al. 2013 Edit
GEN148 MACROD2 MACRO domain containing 2 20p12.1 Genetic Association
N
14 17 Anney R , et al. 2010 Edit
GEN766 NINL Ninein-like 20p11.21 Rare single gene variant
N
2 3 Sanders SJ , et al. 2015 Edit
GEN828 OXT oxytocin/neurophysin I prepropeptide 20p13 Genetic association
N
8 4 Ebstein RP , et al. 2009 Edit
GEN316 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 20p12.3 Rare Single Gene variant
N
14 7 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
N
7 1 Li J , et al. 2015 Edit
GEN314 PTPRT protein tyrosine phosphatase, receptor type, T 20q12-q13.11 Rare Single Gene variant
N
5 8 Christian SL , et al. 2008 Edit
GEN951 RAD21L1 RAD21 cohesin complex component like 1 20p13 Rare single gene variant
N
3 2 Iossifov I , et al. 2012 Edit
GEN783 SLC12A5 Solute carrier family 12 (potassium/chloride transporter), member 5 20q13.12 Rare single gene variant
N
12 5 Merner ND , et al. 2015 Edit
GEN701 SNAP25 Synaptosomal-associated protein, 25kDa 20p12.2 Genetic association
N
5 6 Braida D , et al. 2015 Edit
GEN250 TGM3 transglutaminase 3 20p13 Rare Single Gene variant
N
1 5 O'Roak BJ , et al. 2011 Edit
GEN569 TOP1 Topoisomerase (DNA) I 20q12 Rare Single Gene variant
N
2 6 King IF , et al. 2013 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
20
Deletion-Duplication
 5
 
 
20
Deletion-Duplication
 1
 
 
20
Deletion-Duplication
 11
 
 
20
Duplication
 2
 
 
20
Deletion
 4
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 11
 
 
20
Deletion
 1
 
 
20
Deletion-Duplication
 29
 
 
20
Deletion
 1
 
 
20
Deletion
 5
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 20
 
 
20
Duplication
 4
 
 
20
Deletion-Duplication
 30
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 3
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 17
 
 
20
Duplication
 2
 
 
20
Duplication
 1
 
 
20
Deletion
 6
 
 
20
Deletion
 1
 
 
20
Deletion
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 7
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 15
 
 
20
Duplication
 2
 
 
20
Deletion-Duplication
 2
 
 
20
Deletion-Duplication
 8
 
 
20
Duplication
 2
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 8
 
 
20
Deletion-Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 14
 
 
20
Duplication
 1
 
 
20
Deletion
 1
 
 
20
Deletion-Duplication
 3
 
 
20
Deletion
 1
 
 
20
Duplication
 1
 
 
20
Deletion
 3
 
 
20
Duplication
 2
 
 
20
Deletion-Duplication
 30
 

 

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
 
 4
 8
 
  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
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
HELP
Copyright © 2017 MindSpec, Inc.