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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
GEN1227 AHNAK AHNAKnucleoprotein 11q12.3 Rare single gene variant
4
 55 6 Wang T et al. 2020 Edit
GEN981 AMBRA1 autophagy and beclin 1 regulator 1 11p11.2 Functional
2
 6 8 Dere E , et al. 2014 Edit
GEN1014 APBB1 amyloid beta precursor protein binding family B member 1 11p15.4 Functional
3
 6 4 Iossifov I et al. 2014 Edit
GEN816 ARHGAP32 Rho GTPase activating protein 32 11q24.3 Multigenic CNV
3
 29 10 Akshoomoff N , et al. 2014 Edit
GEN1343 BACE1 beta-secretase 1 11q23.3 Functional
2
 2 4 Kim IB et al. 2022 Edit
GEN625 BDNF Brain-derived neurotrophic factor 11p14.1 Functional
2 13 Kyzar EJ , et al. 2012 Edit
GEN1310 BMAL1 basic helix-loop-helix ARNT like 1 11p15.3 Rare single gene variant
3
 11 9 Yang Z , et al. 2015 Edit
GEN1080 BRSK2 BR serine/threonine kinase 2 11p15.5 Rare single gene variant
5
 33 12 De Rubeis S , et al. 2014 Edit
GEN036 CADM1 cell adhesion molecule 1 11q23.3 Rare Single Gene variant
2
 6 10 Zhiling Y , et al. 2008 Edit
GEN555 CAPRIN1 Cell cycle associated protein 1 11p13 Functional
4
 17 6 Jiang YH , et al. 2013 Edit
GEN1319 CAT catalase 11p13 Functional
2
 5 4 Iossifov I et al. 2014 Edit
GEN041 CD44 CD44 molecule (Indian blood group) 11p13 Functional
2
 2 5 Hu VW , et al. 2006 Edit
GEN1201 CDON cell adhesion associated, oncogene regulated 11q24.2 Rare single gene variant
2
 15 4 Trost B et al. 2020 Edit
GEN385 CNTN5 Contactin 5 11q22.1 Rare single gene variant
3
 36 11 van Daalen E , et al. 2011 Edit
GEN1375 CPSF7 cleavage and polyadenylation specific factor 7 11q12.2 Rare single gene variant
2
 8 7 C Yuen RK et al. 2017 Edit
GEN1334 CTR9 CTR9homolog, Paf1/RNA polymerase II complex component 11p15.4 Rare single gene variant
3
 29 9 De Rubeis S , et al. 2014 Edit
GEN508 DAGLA diacylglycerol lipase alpha 11q12.2 Rare single gene variant
3
 42 7 Prasad A , et al. 2013 Edit
GEN610 DEAF1 DEAF1 transcription factor 11p15.5 Rare single gene variant
5
 90 32 Vulto-van Silfhout AT , et al. 2014 Edit
GEN675 DGKZ diacylglycerol kinase zeta 11p11.2 Rare single gene variant
2
 5 3 Li J , et al. 2015 Edit
GEN063 DHCR7 7-dehydrocholesterol reductase 11q13.4 Syndromic
2
 37 20 Tierney E , et al. 2001 Edit
GEN852 DIXDC1 DIX domain containing 1 11q23.1 Functional
4
 48 6 Martin PM , et al. 2016 Edit
GEN1107 DLG2 discs large MAGUK scaffold protein 2 11q14.1 Rare single gene variant
2
 26 14 De Rubeis S , et al. 2014 Edit
GEN1111 DPP3 dipeptidyl peptidase 3 11q13.2 Rare single gene variant
2
 6 4 De Rubeis S , et al. 2014 Edit
GEN358 DRD2 Dopamine receptor D2 11q23.2 Rare single gene variant
2
 11 7 Hettinger JA , et al. 2012 Edit
GEN733 ELP4 Elongator acetyltransferase complex subunit 4 11p13 Multigenic CNV
2
 19 7 Addis L , et al. 2015 Edit
GEN669 EMSY EMSY, BRCA2 interacting transcriptional repressor 11q13.5 Rare single gene variant
3
 14 5 Gupta S , et al. 2014 Edit
GEN413 FOLH1 folate hydrolase 1 11p11.12 Functional
0 2 Han L , et al. 2009 Edit
GEN1272 GAB2 GRB2 associated binding protein 2 11q14.1 Rare single gene variant
2
 5 2 Wilfert AB et al. 2021 Edit
GEN373 GAS2 Growth arrest-specific 2 11p14.3 Genetic association
2 1 Weiss LA , et al. 2009 Edit
GEN775 GRIK4 Glutamate receptor, ionotropic, kainate 4 11q23.3 Rare single gene variant
2
 9 7 Aller MI , et al. 2015 Edit
GEN355 GRM5 glutamate metabotropic receptor 5 11q14.2-q14.3 Rare single gene variant
3
 25 11 Iossifov I , et al. 2012 Edit
GEN400 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 11q22.3 Genetic association
2
 3 3 Anney R , et al. 2012 Edit
GEN118 HEPACAM hepatic and glial cell adhesion molecule 11q24.2 Syndromic
2
 33 11 Lpez-Hernndez T , et al. 2011 Edit
GEN1249 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 11q12.3 Rare single gene variant
3
 20 4 Gillentine MA et al. 2021 Edit
GEN124 HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 11p15.5 Rare Single Gene variant
2
 18 12 Hrault J , et al. 1993 Edit
GEN129 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A 11q23.2 Functional
2
 9 9 Anderson BM , et al. 2009 Edit
GEN1074 KCNC1 potassium voltage-gated channel subfamily C member 1 11p15.1 Rare single gene variant
2
 8 10 Iossifov I et al. 2014 Edit
GEN967 KCNK7 potassium two pore domain channel subfamily K member 7 11q13.1 Rare single gene variant
2
 6 3 Li J , et al. 2017 Edit
GEN1326 KDM2A lysine demethylase 2A 11q13.2 Rare single gene variant
4
 25 9 Iossifov I et al. 2014 Edit
GEN789 KIRREL3 Kin of IRRE like 3 (Drosophila) 11q24.2 Rare single gene variant
3
 33 19 Talkowski ME , et al. 2012 Edit
GEN388 KLC2 Kinesin light chain 2 11q13.2 Rare single gene variant
2
 4 3 Awadalla P , et al. 2010 Edit
GEN700 KMT2A Lysine (K)-specific methyltransferase 2A 11q23.3 Syndromic
5
 215 50 De Rubeis S , et al. 2014 Edit
GEN336 KMT5B lysine methyltransferase 5B 11q13.2 Rare Single Gene variant
5
 98 27 Sanders SJ , et al. 2012 Edit
GEN1163 LRRC4C leucine rich repeat containing 4C 11p12 Rare single gene variant
2
 4 2 Satterstrom FK et al. 2020 Edit
GEN1300 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 11p11.2 Rare single gene variant
2
 3 4 Iossifov I et al. 2014 Edit
GEN1348 MARK2 microtubule affinity regulating kinase 2 11q13.1 Rare single gene variant
4
 18 5 Zhou X et al. 2022 Edit
GEN765 MFRP Membrane frizzled-related protein 11q23.3 Rare single gene variant
3
 12 8 Sanders SJ , et al. 2015 Edit
GEN921 MSANTD2 Myb/SANT DNA binding domain containing 2 11q24.2 Rare single gene variant
2
 3 2 Lim ET , et al. 2017 Edit
GEN814 NAV2 neuron navigator 2 11p15.1 Rare single gene variant
3
 26 13 Sanders SJ , et al. 2012 Edit
GEN440 NELL1 neural EGFL like 1 11p15.1 Genetic association
3 3 Connolly JJ , et al. 2012 Edit
GEN271 NRXN2 neurexin 2 11q13.1 Rare Single Gene variant
3
 28 17 Gauthier J , et al. 2011 Edit
GEN1207 NXF1 nuclear RNA export factor 1 11q12.3 Rare single gene variant
0
 2 2 Luo Y et al. 2020 Edit
GEN767 OR52M1 Olfactory receptor, family 52, subfamily M, member 1 11p15.4 Rare single gene variant
2
 2 3 Sanders SJ , et al. 2015 Edit
GEN803 PACS1 phosphofurin acidic cluster sorting protein 1 11q13.1-q13.2 Syndromic
4
 54 20 Schuurs-Hoeijmakers JH , et al. 2016 Edit
GEN1113 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 11q23.3 Rare single gene variant
2
 4 4 Iossifov I et al. 2014 Edit
GEN1127 PAK1 p21 (RAC1) activated kinase 1 11q13.5-q14.1 Syndromic
3
 13 7 Kernohan KD , et al. 2019 Edit
GEN743 PAX6 Paired box 6 11p13 Multigenic CNV
2
 6 9 Umeda T , et al. 2011 Edit
GEN1330 PC pyruvate carboxylase 11q13.2 Rare single gene variant
3
 18 8 Iossifov I et al. 2014 Edit
GEN1346 PDE3B phosphodiesterase 3B 11p15.2 Rare single gene variant
3
 24 8 Kim IB et al. 2022 Edit
GEN1070 PHF21A PHD finger protein 21A 11p11.2 Syndromic
4
 29 17 Iossifov I et al. 2014 Edit
GEN738 PHRF1 PHD and ring finger domains 1 11p15.5 Rare single gene variant
2
 6 5 De Rubeis S , et al. 2014 Edit
GEN1260 PIDD1 p53-induced death domain protein 1 11p15.5 Syndromic
2
 Yes 11 4 Zaki MS et al. 2021 Edit
GEN922 POLA2 DNA polymerase alpha 2, accessory subunit 11q13.1 Rare single gene variant
2
 7 7 Iossifov I et al. 2014 Edit
GEN512 PPFIA1 PTPRF interacting protein alpha 1 11q13.3 Rare single gene variant
2
 6 5 Schluth-Bolard C , et al. 2013 Edit
GEN810 PPP2R1B protein phosphatase 2 regulatory subunit A, beta 11q23.1 Rare single gene variant
2
 8 8 Sanders SJ , et al. 2012 Edit
GEN1421 PRPF19 pre-mRNA processing factor 19 11q12.2 Rare single gene variant
3
 9 3 et al. Edit
GEN229 SHANK2 SH3 and multiple ankyrin repeat domains 2 11q13.3-q13.4 Rare Single Gene variant
4
 144 54 Berkel S , et al. 2010 Edit
GEN706 SLC1A2 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 11p13 Multigenic CNV
2
 26 10 Aida T , et al. 2015 Edit
GEN809 SLC22A9 solute carrier family 22 member 9 11q12.3 Rare single gene variant
2
 6 6 Sanders SJ , et al. 2012 Edit
GEN466 SNX19 sorting nexin 19 11q24.3-q25 Rare single gene variant
0
 3 3 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN1178 SOX6 SRY-box transcription factor 6 11p15.2 Syndromic
2
 19 3 Tolchin D et al. 2020 Edit
GEN1147 SRPRA SRP receptor subunit alpha 11q24.2 Rare single gene variant
3
 6 3 Iossifov I et al. 2014 Edit
GEN977 SSRP1 structure specific recognition protein 1 11q12.1 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN1371 TBCEL tubulin folding cofactor E like 11q23.3 Rare single gene variant
3
 3 3 Satterstrom FK et al. 2020 Edit
GEN933 TECTA tectorin alpha 11q23.3 Rare single gene variant
3
 12 9 Sanders SJ , et al. 2012 Edit
GEN251 TH tyrosine hydroxylase 11p15.5 Genetic Association
2
 8 21 Comings DE , et al. 1995 Edit
GEN1217 TMEM134 transmembrane protein 134 11q13.2 Rare single gene variant
2
 3 3 Luo Y et al. 2020 Edit
GEN666 TRPC6 Transient receptor potential cation channel, subfamily C, member 6 11q22.1 Rare single gene variant/functional
3
 19 6 Griesi-Oliveira K , et al. 2014 Edit
GEN1105 TSPAN4 tetraspanin 4 11p15.5 Rare single gene variant
2
 4 5 Iossifov I et al. 2014 Edit
GEN422 TYR tyrosinase 11q14.3 Functional
3 3 Hamilton SM , et al. 2010 Edit
GEN401 ZBTB16 Zinc finger and BTB domain containing 16 11q23.2 Genetic association
2
 2 3 Anney R , et al. 2012 Edit

 

CNV Search Results

Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
11
Deletion-Duplication
 13
 
 
11
Deletion-Duplication
 15
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 15
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 29
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 4
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion
 1
 
 
11
Deletion
 3
 
 
11
Deletion
 4
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 18
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Deletion
 2
 
 
11
Deletion
 1
 
 
11
Duplication
 4
 
 
11
Deletion-Duplication
 20
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Duplication
 11
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 34
 
 
11
Deletion-Duplication
 23
 
 
11
Duplication
 1
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 11
 
 
11
Duplication
 5
 
 
11
Deletion-Duplication
 7
 
 
11
Deletion-Duplication
 11
 
 
11
Deletion
 1
 
 
11
Deletion
 12
 
 
11
Deletion-Duplication
 1
 
 
11
Deletion-Duplication
 18
 
 
11
Deletion
 1
 
 
11
Deletion
 3
 
 
11
Duplication
 1
 
 
11
Deletion
 7
 
 
11
Duplication
 3
 
 
11
Deletion-Duplication
 17
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 34
 
 
11
Duplication
 2
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 10
 
 
11
Deletion
 3
 
 
11
Deletion-Duplication
 9
 
 
11
Deletion-Duplication
 2
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 18
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 26
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion
 3
 
 
11
Duplication
 2
 
 
11
Deletion-Duplication
 19
 
 
11
Duplication
 1
 
 
11
Deletion
 9
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion-Duplication
 13
 
 
11
Deletion
 2
 
 
11
Deletion
 9
 
 
11
Deletion-Duplication
 11
 
 
11
Deletion
 9
 

 

Animal Model Search Results

Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Ambra1
 autophagy and beclin 1 regulator 1
 Mus musculus
 11p11.2
 3
 4
 
 Rho GTPase activating protein 32
 Mus musculus
 
 1
 3
 
  Bdnf
 brain derived neurotrophic factor
 Mus musculus
 
 1
 1
 
  Cadm1
 cell adhesion molecule 1
 Mus musculus
 Unknown
 2
 4
 
 RNA granule protein 105 (Caprin 1)
 Mus musculus
 Unknown
 1
 2
 
  Dagla
 diacylglycerol lipase, alpha
 Mus musculus
 
 1
 4
 
  Deaf1
 Deformed epidermal autoregulatory factor-1
 Drosophila melanogaster
 
 1
 17
 
  Deaf1
 Deformed epidermal autoregulatory factor 1
 Mus musculus
 11p15.5
 3
 9
 
  Dhcr7
 7-dehydrocholesterol reductase
 Mus musculus
 
 3
 5
 
  Folh1
 folate hydrolase
 Mus musculus
 -
 2
 4
 
  Grik4
 Glutamate receptor, ionotropic, kainate 4
 Mus musculus
 
 4
 12
 
  Grm5
 glutamate receptor, metabotropic 5
 Mus musculus
 
 3
 12
 
  Htr3a
 5-hydroxytryptamine (serotonin) receptor 3A
 Mus musculus
 Unknown
 2
 3
 
 kirre like nephrin family adhesion molecule 3
 Mus musculus
 
 1
 1
 
  Kmt2a
 Lysine (K)-specific methyltransferase 2A
 Mus musculus
 
 3
 4
 
 Histone methyltransferase 4-20
 Drosophila melanogaster
 
 1
 1
 
  Kmt5b
 lysine methyltransferase 5B
 Mus musculus
 NA
 2
 2
 
  Nell1
 NEL-like 1
 Mus musculus
 
 1
 2
 
  Nrxn2
 Neurexin 2
 Mus musculus
 
 2
 3
 
  pacs1a
 phosphofurin acidic cluster sorting protein 1a
 Danio rerio
 
 1
 2
 
  Pax6
 paired box 6
 Rattus norvegicus
 
 2
 2
 
  Shank2
 SH3/ankyrin domain gene 2
 Mus musculus
 
 9
 24
 
  Shank2
 SH3 and multiple ankyrin repeat domains 2
 Rattus norvegicus
 
 1
 5
 
  Slc1a2
 solute carrier family 1 (glial high affinity glutamate transporter), member 2
 Mus musculus
 
 1
 8
 
  Trpc6
 Transient receptor potential cation channel, subfamily C, member 6
 Mus musculus
 
 1
 4
 
  Tyr
 Tyrosinase
 Mus musculus
 Unknown
 1
 1

 

PIN Search Results

Gene Symbol
Gene Name
Number of Interactions
Rho GTPase activating protein 32
9
brain-derived neurotrophic factor
9
cell adhesion molecule 1
22
cell cycle associated protein 1
4
CD44 molecule (Indian blood group)
53
DEAF1 transcription factor
25
diacylglycerol kinase, zeta
4
7-dehydrocholesterol reductase
10
dopamine receptor D2
45
glutamate receptor, metabotropic 5
38
hepatic and glial cell adhesion molecule
8
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
43
kinesin light chain 2
22
lysine (K)-specific methyltransferase 2A
3
NEL-like 1 (chicken)
22
Neurexin-2
12
paired box 6
347
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
16
SH3 and multiple ankyrin repeat domains 2
27
TH
Tyrosine 3-monooxygenase
10
Short transient receptor potential channel 6
2
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