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
GEN749 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 17q24.3 Rare single gene variant
3
Yes 4 1 Lim ET , et al. 2013 Edit
GEN822 ACE angiotensin I converting enzyme 17q23.3 Rare single gene variant
2
3 2 Dome JS and D'Angio GJ 2016 Edit
GEN024 BAIAP2 BAI1-associated protein 2 17q25.3 Genetic Association
0
5 10 Toma C , et al. 2010 Edit
GEN034 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 17q21.33 Genetic Association
3
36 19 Strom SP , et al. 2009 Edit
GEN330 CSNK1D casein kinase 1, delta 17q25.3 Rare Single Gene variant
0
2 1 Pinto D , et al. 2010 Edit
GEN412 DLG4 discs large MAGUK scaffold protein 4 17p13.1 Functional
2
12 9 Feyder M , et al. 2010 Edit
GEN937 DNAH17 dynein axonemal heavy chain 17 17q25.3 Rare single gene variant
2
4 4 De Rubeis S , et al. 2014 Edit
GEN997 GGNBP2 gametogenetin binding protein 2 17q12 Rare single gene variant
3
2 2 De Rubeis S , et al. 2014 Edit
GEN123 HOXB1 homeobox B1 17q21.32 Genetic Association
0 8 Ingram JL , et al. 2000 Edit
GEN137 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 17q21.32 Genetic association
3
8 14 Weiss LA , et al. 2006 Edit
GEN686 KCNJ12 potassium voltage-gated channel subfamily J member 12 17p11.2 Rare single gene variant
0
2 1 Li J , et al. 2015 Edit
GEN614 KCNJ2 Potassium inwardly-rectifying channel, subfamily J, member 2 17q24.3 Rare Single Gene variant
3
2 2 Ambrosini E , et al. 2014 Edit
GEN648 KDM6B Lysine (K)-specific demethylase 6B 17p13.1 Rare single gene variant
4
27 8 Iossifov I , et al. 2012 Edit
GEN956 KRT26 keratin 26 17q21.2 Rare single gene variant
3
36 2 Krumm N , et al. 2015 Edit
GEN884 MED13 mediator complex subunit 13 17q23.2 Rare single gene variant
4
17 4 Iossifov I , et al. 2014 Edit
GEN780 MNT MAX network transcriptional repressor 17p13.3 Genetic association
0
2 1 Kuo PH , et al. 2015 Edit
GEN1036 MYH10 myosin heavy chain 10 17p13.1 Rare single gene variant
3
5 5 Willsey AJ , et al. 2013 Edit
GEN502 MYH4 Myosin, heavy chain 4, skeletal muscle 17p13.1 Rare single gene variant
2
4 3 Prasad A , et al. 2013 Edit
GEN855 NCOR1 nuclear receptor corepressor 1 17p12-p11.2 Rare single gene variant
3
3 3 Iossifov I , et al. 2012 Edit
GEN169 NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) 17q11.2 Rare Single Gene variant, Genetic Association
3
12 23 Marui T , et al. 2004 Edit
GEN627 NLGN2 Neuroligin 2 17p13.1 Rare single gene variant
3
5 8 Whr M , et al. 2012 Edit
GEN175 NOS2 nitric oxide synthase 2 17q11.2 Genetic Association
2
5 7 Kim HW , et al. 2008 Edit
GEN898 NR1D1 nuclear receptor subfamily 1 group D member 1 17q21.1 Rare single gene variant
2
5 3 Yang Z , et al. 2015 Edit
GEN768 P2RX5 Purinergic receptor P2X, ligand gated ion channel, 5 17p13.2 Rare single gene variant
2
1 2 Sanders SJ , et al. 2015 Edit
GEN630 PAFAH1B1 Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 17p13.3 Functional
0 2 Sudarov A , et al. 2013 Edit
GEN193 PER1 period homolog 1 (Drosophila) 17p13.1 Genetic Association
2
8 6 Nicholas B , et al. 2007 Edit
GEN909 PHB prohibitin 17q21.33 Genetic association
0
1 1 Cantor RM , et al. 2017 Edit
GEN901 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D 17q23.2 Rare single gene variant
3
23 5 Sanders SJ , et al. 2012 Edit
GEN359 PPP1R1B Protein phosphatase 1, regulatory (inhibitor) subunit 1B 17q12 Genetic association
0
3 1 Hettinger JA , et al. 2012 Edit
GEN867 PSMD12 proteasome 26S subunit, non-ATPase 12 17q24.2 Syndromic
3
11 2 Kry S , et al. 2017 Edit
GEN208 RAI1 retinoic acid induced 1 17p11.2 Syndromic
3
14 21 Nakamine A , et al. 2007 Edit
GEN560 RASD1 ras related dexamethasone induced 1 17p11.2 Functional
0 1 Lacaria M , et al. 2013 Edit
GEN774 RNF135 Ring finger protein 135 17q11.2 Syndromic
0
7 2 Tastet J , et al. 2015 Edit
GEN936 RP11-1407O15.2 Rare single gene variant
2
2 1 Lim ET , et al. 2017 Edit
GEN739 SCN4A Sodium channel, voltage gated, type IV alpha subunit 17q23.3 Rare single gene variant
2
3 3 Iossifov I , et al. 2014 Edit
GEN601 SGSH N-sulfoglucosamine sulfohydrolase 17q25.3 Syndromic
0
1 4 Rumsey RK , et al. 2014 Edit
GEN331 SLC16A3 solute carrier family 16, member 3 (monocarboxylic acid transporter 4) 17q25.3 Rare Single Gene variant
2
4 2 Pinto D , et al. 2010 Edit
GEN952 SLC25A39 solute carrier family 25 member 39 17q21.31 Rare single gene variant
3
12 3 Iossifov I , et al. 2012 Edit
GEN908 SLC35B1 solute carrier family 35 member B1 17q21.33 Genetic association
0
2 1 Cantor RM , et al. 2017 Edit
GEN270 SLC38A10 solute carrier family 38, member 10 17q25.3 Rare Single Gene variant
2
1 1 Celestino-Soper PB , et al. 2011 Edit
GEN402 SLC39A11 solute carrier family 39 member 11 17q24.3-q25.1 Genetic association
0
1 1 Anney R , et al. 2012 Edit
GEN235 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 17q11.2 Genetic Association
4
49 25 Cook EH Jr , et al. 1997 Edit
GEN520 SMG6 SMG6, nonsense mediated mRNA decay factor 17p13.3 Multigenic CNV
2
3 2 Nguyen LS , et al. 2013 Edit
GEN878 TANC2 etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 17q23.2-q23.3 Rare single gene variant
3
9 6 Iossifov I , et al. 2014 Edit
GEN421 THRA thyroid hormone receptor alpha 17q21.1 Functional
2
1 3 Pilhatsch M , et al. 2010 Edit
GEN252 TLK2 tousled-like kinase 2 17q23.2 Rare Single Gene variant
3
42 10 O'Roak BJ , et al. 2011 Edit
GEN026 TSPOAP1 TSPO associated protein 1 17q22 Rare Single Gene variant
3
8 5 Bucan M , et al. 2009 Edit
GEN907 TTC25 tetratricopeptide repeat domain 25 17q21.2 Genetic association
0
9 1 Vojinovic D , et al. 2017 Edit
GEN501 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 17p13.3 Multigenic CNV
2
3 5 Prasad A , et al. 2013 Edit
GEN352 ZNF18 zinc finger protein 18 17p12 Rare single gene variant
2
Yes 3 1 Chahrour MH , et al. 2012 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
17
Deletion-Duplication
 44
  construct
 
17
Deletion-Duplication
 32
 
 
17
Duplication
 6
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 26
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 20
 
 
17
Duplication
 8
 
 
17
Deletion-Duplication
 45
 
 
17
Duplication
 1
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 4
 
 
17
Duplication
 9
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 6
 
 
17
Duplication
 2
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 20
 
 
17
Deletion-Duplication
 55
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 39
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 18
 
 
17
Deletion
 1
 
 
17
Deletion
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 11
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Deletion
 12
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 7
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 22
 
 
17
Duplication
 1
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 5
 
 
17
Deletion-Duplication
 24
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Baiap2
 brain-specific angiogenesis inhibitor 1-associated protein 2
 Mus musculus
 Unknown
 2
 4
 
 Calcium channel, voltage dependent, T type, alpha 1G subunit
 Mus musculus
 Unknown
 4
 6
 
  Csnk1d
 casein kinase 1, delta
 Mus musculus
 
 1
 3
 
  Dlg4
 discs, large homolog 4 (Drosophila)
 Mus musculus
 Unknown
 1
 1
 
  Itgb3
 integrin beta 3
 Mus musculus
 Unknown
 2
 2
 
  Irk1
 Inwardly rectifying potassium channel 2
 Drosophila melanogaster
 
 1
 4
 
  Smr
 Smrter
 Drosophila melanogaster
 
 1
 1
 
  Nf1
 Neurofibromin 1
 Drosophila melanogaster
 
 1
 21
 
  Nf1
 neurofibramatosis 1
 Mus musculus
 Unknown
 6
 9
 
  Nlg2
 Neuroligin 2
 Drosophila melanogaster
 
 1
 1
 
  Nlgn2
 neuroligin 2
 Mus musculus
 
 2
 4
 
  Nlgn2
 neuroligin 2
 Rattus norvegicus
 
 1
 1
 
  Nos2
 Nitric oxide synthase 2, inducible
 Mus musculus
 Unknown
 3
 1
 
 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
 Mus musculus
 
 1
 2
 
  Per1
 Period homolog 1
 Mus musculus
 Unknown
 1
 1
 
  Rai1
 retinoic acid induced 1
 Mus musculus
 Unknown
 2
 2
 
  Rasd1
 RAS, dexamethasone induced 1
 Mus musculus
 
 1
 2
 
  Slc6a4
 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
 Mus musculus
 Unknown
 6
 8
 
  Slc6a4
 solute carrier family 6 member 4
 Rattus norvegicus
 
 2
 3
 
  Thra
 thyroid hormone receptor alpha
 Mus musculus
 Unknown
 1
 1

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
BAI1-associated protein 2
22
calcium channel, voltage-dependent, T type, alpha 1G subunit
9
casein kinase 1, delta
55
DLG4discs, large homolog 4 (Drosophila)
127
homeobox B1
1
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
51
Lysine-specific demethylase 6B
14
NF1
neurofibromin 1
40
neuroligin 2
18
nitric oxide synthase 2, inducible
41
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
14
period homolog 1 (Drosophila)
46
protein phosphatase 1, regulatory (inhibitor) subunit 1B
19
retinoic acid induced 1
15
solute carrier family 16, member 3 (monocarboxylic acid transporter 4)
8
solute carrier family 38, member 10
8
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
7
smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
10
thyroid hormone receptor, alpha
10
tousled-like kinase 2
11
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
34
zinc finger protein 18
10
HELP
Copyright © 2017 MindSpec, Inc.