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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
GEN407 ADARB1 Adenosine deaminase, RNA-specific, B1 21q22.3 Functional
N
1 2 Eran A , et al. 2012 Edit
GEN570 APP Amyloid beta (A4) precursor protein 21q21.3 Functional
N
0 3 Bailey AR , et al. 2013 Edit
GEN039 CBS cystathionine beta-synthase 21q22.3 Functional, Negative association
N
2 5 Levy HL , et al. 2002 Edit
GEN644 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) 21q22.3 Rare single gene variant
N
4 4 Iossifov I , et al. 2012 Edit
GEN645 DSCAM Down syndrome cell adhesion molecule 21q22.2 Rare single gene variant
N
16 7 Iossifov I , et al. 2014 Edit
GEN367 DYRK1A Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13 Syndromic
N
103 33 O'Roak BJ , et al. 2012 Edit
GEN404 ERG ERG, ETS transcription factor 21q22.2 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN303 HMGN1 high mobility group nucleosome binding domain 1 21q22.2 Genetic Association
N
11 1 Abuhatzira L , et al. 2011 Edit
GEN687 KCNJ15 Potassium inwardly-rectifying channel, subfamily J, member 15 21q22.13-q22.2 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN712 SIK1 Salt-inducible kinase 1 21q22.3 Rare single gene variant
N
7 5 Hansen J , et al. 2015 Edit
GEN604 SOD1 superoxide dismutase 1 21q22.11 Functional
N
2 2 Kova J , et al. 2013 Edit
GEN929 SYNJ1 synaptojanin 1 21q22.11 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
21
Duplication
 2
 
 
21
Deletion
 2
 
 
21
Deletion
 1
 
 
21
Duplication
 5
 
 
21
Deletion
 1
 
 
21
Duplication
 1
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 16
 
 
21
Deletion-Duplication
 11
 
 
21
Deletion-Duplication
 1
 
 
21
Deletion
 1
 
 
21
Duplication
 2
 
 
21
Deletion
 1
 
 
21
Deletion-Duplication
 5
 
 
21
Deletion
 2
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 7
 
 
21
Deletion
 3
 
 
21
Deletion-Duplication
 30
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  App
 amyloid beta (A4) precursor protein
 Mus musculus
 
 1
 1
 
  Dscam1
 Down syndrome cell adhesion molecule 1
 Drosophila melanogaster
 
 1
 1
 
  Dscam
 Down syndrome cell adhesion molecule
 Mus musculus
 
 5
 11
 
 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, a
 Danio rerio
 
 1
 2
 
  mnb
 minibrain
 Drosophila melanogaster
 
 2
 10
 
  Dyrk1a
 dual specificity tyrosine-Y- phosphorylation regulated kinase 1a
 Mus musculus
 
 2
 3
 
  Hmgn1
 High mobility group nucleosomal binding domain 1
 Mus musculus
 Unknown
 1
 2

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
APP
amyloid beta (A4) precursor protein
79
DIP2 disco-interacting protein 2 homolog A (Drosophila)
31
Down syndrome cell adhesion molecule
8
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
55
ERG
v-ets erythroblastosis virus E26 oncogene homolog (avian)
1
high mobility group nucleosome binding domain 1
35
superoxide dismutase 1, soluble
8
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