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Human Gene Search Results


Unique ID
Gene Symbol
Gene Name
Chromosome Loc
Genetic Category
# of Reports
Primary Reference
Display
 
  GEN590
  ABCA7
  ATP-binding cassette, sub-family A (ABC1), member 7
  19
  Rare single gene variant
  2
  Edit
 
  GEN672
  ACTN4
  Actinin, alpha 4
  19
  Rare single gene variant
  3
  Edit
 
  GEN609
  ANXA1
  Annexin A1
  9
  Rare single gene variant
  2
  Edit
 
  GEN713
  Rho GTPase activating protein 33
  19
  Functional
  2
  Edit
 
  GEN019
  ASS1
  argininosuccinate synthetase
  9
  Functional
  3
  Edit
 
  GEN020
  ASTN2
  astrotactin 2
  9
  Rare Single Gene variant
  10
  Edit
 
  GEN829
  ATP1A3
  ATPase Na+/K+ transporting subunit alpha 3
  19
  Syndromic
  8
  Edit
 
  GEN820
  BRINP1
  BMP/retinoic acid inducible neural specific 1
  9
  Functional
  2
  Edit
 
  GEN707
  Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  19
  Rare single gene variant
  8
  Edit
 
  GEN408
  Calcium channel, voltage-dependent, N type, alpha 1B subunit
  9
  Genetic association
  6
  Edit
 
  GEN772
  CAPN12
  Calpain 12
  19
  Rare single gene variant
  4
  Edit
 
  GEN621
  CC2D1A
  Coiled-coil and C2 domain containing 1A
  19
  Rare single gene variant
  9
  Edit
 
  GEN866
  CNOT3
  CCR4-NOT transcription complex subunit 3
  19
  Rare single gene variant
  2
  Edit
 
  GEN307
  contactin associated protein-like 3
  9
  Rare Single Gene variant
  1
  Edit
 
  GEN801
  CYLC2
  cylicin, basic protein of sperm head cytoskeleton 2 
  9
  Rare single gene variant
  3
  Edit
 
  GEN058
  DAPK1
  death-associated protein kinase 1
  9
  Functional
  5
  Edit
 
  GEN071
  DMPK
  dystrophia myotonica-protein kinase
  19
  Syndromic
  7
  Edit
 
  GEN853
  DOCK8
  dedicator of cytokinesis 8
  9
  Rare single gene variant
  5
  Edit
 
  GEN557
  DOLK
  Dolichol kinase
  9
  Syndromic
  1
  Edit
 
  GEN344
  EHMT1
  Euchromatic histone-lysine N-methyltransferase 1
  9
  Syndromic
  16
  Edit
 
  GEN808
  EIF3G
  eukaryotic translation initiation factor 3 subunit G 
  19
  Rare single gene variant
  3
  Edit
 
  GEN826
  ELAVL2
  ELAV like neuron-specific RNA binding protein 2
  9
  Rare single gene variant
  4
  Edit
 
  GEN753
  ELAVL3
  ELAV like neuron-specific RNA binding protein 3
  19
  Rare single gene variant
  2
  Edit
 
  GEN658
  ETFB
  Electron-transfer-flavoprotein, beta polypeptide
  19
  Rare single gene variant
  2
  Edit
 
  GEN742
  Growth arrest and DNA-damage-inducible, beta
  19
  Functional
  4
  Edit
 
  GEN682
  GDA
  Guanine deaminase
  9
  Rare single gene variant
  1
  Edit
 
  GEN347
  GNA14
  Guanine nucleotide binding protein (G protein), alpha 14
  9
  Rare Single Gene variant
  1
  Edit
 
  GEN722
  GRIK5
  Glutamate receptor, ionotropic, kainate 5
  19
  Rare single gene variant
  6
  Edit
 
  GEN626
  GRIN1
  Glutamate receptor, ionotropic, N-methyl D-aspartate 1
  9
  Functional
  11
  Edit
 
  GEN387
  GSN
  Gelsolin
  9
  Rare single gene variant
  1
  Edit
 
  GEN530
  KANK1
  KN motif and ankyrin repeat domains 1
  9
  Rare single gene variant
  6
  Edit
 
  GEN434
  KCNT1
  Potassium channel, subfamily T, member 1
  9
  Rare single gene variant
  8
  Edit
 
  GEN819
  KDM4B
  lysine demethylase 4B
  19
  Rare single gene variant
  3
  Edit
 
  GEN586
  KPTN
  Kaptin (actin binding protein)
  19
  Rare single gene variant
  2
  Edit
 
  GEN144
  LAMC3
  laminin, gamma 3
  9
  Rare Single Gene variant
  8
  Edit
 
  GEN632
  LIN7B
  Lin-7 homolog B (C. elegans)
  19
  Multigenic CNV/rare single gene variant
  1
  Edit
 
  GEN272
  LMX1B
  LIM homeobox transcription factor 1, beta
  9
  Genetic association/Functional
  1
  Edit
 
  GEN153
  MBD3
  methyl-CpG binding domain protein 3
  19
  Rare Single Gene variant, Genetic Association
  4
  Edit
 
  GEN846
  MBOAT7
  membrane bound O-acyltransferase domain containing 7
  19
  Rare single gene variant
  2
  Edit
 
  GEN661
  MYO9B
  Myosin IXB
  19
  Rare single gene variant
  2
  Edit
 
  GEN868
  NACC1
  nucleus accumbens associated 1
  19
  Rare single gene variant
  3
  Edit
 
  GEN805
  NFIX
  nuclear factor I/X (CCAAT-binding transcription factor)
  19
  Syndromic
  4
  Edit
 
  GEN183
  ODF3L2
  outer dense fiber of sperm tails 3-like 2
  19
  Rare Single Gene variant
  1
  Edit
 
  GEN667
  PAX5
  Paired box 5
  9
  Rare Single Gene variant
  3
  Edit
 
  GEN311
  PDE4A
  phosphodiesterase 4A, cAMP-specific
  19
  Functional
  2
  Edit
 
  GEN859
  peptidoglycan recognition protein 2
  19
  Rare single gene variant
  2
  Edit
 
  GEN651
  PHF2
  PHD finger protein 2
  9
  Rare single gene variant
  4
  Edit
 
  GEN552
  PIK3R2
  Phosphoinositide-3-kinase, regulatory subunit 2 (beta)
  19
  Syndromic
  3
  Edit
 
  GEN371
  PLAUR
  Plasminogen activator, urokinase receptor
  19
  Genetic association
  1
  Edit
 
  GEN310
  PRUNE2
  prune homolog 2 (Drosophila)
  9
  Rare Single Gene variant
  6
  Edit
 
  GEN503
  SAE1
  SUMO1 activating enzyme subunit 1
  19
  Rare single gene variant
  3
  Edit
 
  GEN340
  SHANK1
  SH3 and multiple ankyrin repeat domains 1
  19
  Rare Single Gene variant
  5
  Edit
 
  GEN231
  SLC1A1
  solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
  9
  Genetic association
  11
  Edit
 
  GEN506
  Solute carrier family 24 (sodium/potassium/calcium exchanger), member 2
  9
  Rare single gene variant
  2
  Edit
 
  GEN784
  Solute carrier family 27 (fatty acid transporter), member 4 
  9
  Rare single gene variant, genetic association
  1
  Edit
 
  GEN731
  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
  9
  Genetic association/functional
  9
  Edit
 
  GEN390
  STXBP1
  Syntaxin binding protein 1
  9
  Syndromic
  24
  Edit
 
  GEN341
  SYT3
  synaptotagmin III
  19
  Rare Single Gene variant
  1
  Edit
 
  GEN247
  TAF1L
  TAF1 RNA polymerase II
  9
  Rare Single Gene variant
  3
  Edit
 
  GEN696
  THAP8
  THAP domain containing 8
  19
  Rare single gene variant
  1
  Edit
 
  GEN255
  TSC1
  tuberous sclerosis 1
  9
  Rare Single Gene variant
  16
  Edit
 
  GEN850
  TSHZ3
  teashirt zinc finger homeobox 3
  19
  Rare single gene variant
  2
  Edit
 
  GEN869
  UNC13A
  unc-13 homolog A
  19
  Rare single gene variant
  3
  Edit
 
  GEN787
  VLDLR
  Very low density lipoprotein receptor
  9
  Functional
  3
  Edit
 
  GEN875
  ZC3H4
  zinc finger CCCH-type containing 4
  19
  Rare single gene variant
  2
  Edit
 
  GEN729
  ZNF462
  Zinc finger protein 462
  9
  Rare single gene variant
  4
  Edit
 
  GEN773
  ZNF559
  Zinc finger protein 559 
  19
  Rare single gene variant
  3
  Edit
 
  GEN486
  ZNF8
  Zinc finger protein 8
  19
  Rare single gene variant
  1
  Edit

 

Gene Score Search Results


Gene Symbol
Gene Name
Chromosomal Location
Category ID
Action
 
  ANXA1
 Annexin A1
 9q21.13
 3
 
 Rho GTPase activating protein 33
 19q13.12
 5
 
  ASS1
 argininosuccinate synthetase
 9q34.11
 5
 
  ASTN2
 astrotactin 2
 9q33.1
 3
 
  ATP1A3
 ATPase Na+/K+ transporting subunit alpha 3
 19q13.2
 S
 
  BRINP1
 BMP/retinoic acid inducible neural specific 1
 9q33.1
 5
 
  CAPN12
 Calpain 12
 19q13.2
 4
 
  CC2D1A
 Coiled-coil and C2 domain containing 1A
 19p13.12
 3
 
  CNOT3
 CCR4-NOT transcription complex subunit 3
 19q13.42
 4S
 
  CYLC2
 cylicin, basic protein of sperm head cytoskeleton 2 
 9q31.1
 4
 
  DAPK1
 death-associated protein kinase 1
 9q21.33
 5
 
  DMPK
 dystrophia myotonica-protein kinase
 19q13.32
 S
 
  DOCK8
 dedicator of cytokinesis 8
 9p24.3
 3
 
  EHMT1
 Euchromatic histone-lysine N-methyltransferase 1
 9q34.3
 3S
 
  EIF3G
 eukaryotic translation initiation factor 3 subunit G 
 19p13.2
 4
 
  ELAVL2
 ELAV like neuron-specific RNA binding protein 2
 9p21.3
 4
 
  ELAVL3
 ELAV like neuron-specific RNA binding protein 3
 19p13.2
 3
 
  ETFB
 Electron-transfer-flavoprotein, beta polypeptide
 19q13.41
 3
 
 Growth arrest and DNA-damage-inducible, beta
 19p13.3
 5
 
  GNA14
 Guanine nucleotide binding protein (G protein), alpha 14
 9q21.2
 6
 
  GRIK5
 Glutamate receptor, ionotropic, kainate 5
 19q13.2
 3
 
  GRIN1
 Glutamate receptor, ionotropic, N-methyl D-aspartate 1
 9q34.3
 3
 
  KCNT1
 Potassium channel, subfamily T, member 1
 9q34.3
 5
 
  KDM4B
 lysine demethylase 4B
 19p13.3
 4
 
  LAMC3
 laminin, gamma 3
 9q34.12
 5
 
  LMX1B
 LIM homeobox transcription factor 1, beta
 9q33.3
 4
 
  LMX1B
 LIM homeobox transcription factor 1, beta
 9q33.3
 3
 
  MBD3
 methyl-CpG binding domain protein 3
 19p13.3
 4
 
  MBOAT7
 membrane bound O-acyltransferase domain containing 7
 19q13.42
 2S
 
  MYO9B
 Myosin IXB
 19p13.11
 3
 
  NACC1
 nucleus accumbens associated 1
 19p13.13
 4S
 
  NFIX
 nuclear factor I/X (CCAAT-binding transcription factor)
 19p13.13
 S
 
  ODF3L2
 outer dense fiber of sperm tails 3-like 2
 19p13.3
 4
 
  PAX5
 Paired box 5
 9p13.2
 3
 
 peptidoglycan recognition protein 2
 19p13.12
 5
 
  PHF2
 PHD finger protein 2
 9q22.31
 3
 
  PIK3R2
 Phosphoinositide-3-kinase, regulatory subunit 2 (beta)
 19p13.11
 S
 
  SHANK1
 SH3 and multiple ankyrin repeat domains 1
 19q13.33
 3
 
  SLC1A1
 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
 9p24.2
 4
 
 Solute carrier family 27 (fatty acid transporter), member 4 
 9q34.11
 4
 
 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
 9p24.3
 S
 
  STXBP1
 Syntaxin binding protein 1
 9q34.11
 3S
 
  TAF1L
 TAF1 RNA polymerase II
 9p21.1
 6
 
  TSC1
 tuberous sclerosis 1
 9q34.13
 S
 
  TSHZ3
 teashirt zinc finger homeobox 3
 19
 4
 
  UNC13A
 unc-13 homolog A
 19p13.11
 4S
 
  VLDLR
 Very low density lipoprotein receptor
 9p24.2
 5
 
  ZC3H4
 zinc finger CCCH-type containing 4
 19q13.32
 3
 
  ZNF559
 Zinc finger protein 559 
 19p13.2
 4
 
  ZNF8
 Zinc finger protein 8
 19q13.43
 5

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
 Rho GTPase activating protein 33
 Mus musculus
 
 1
 6
 
  Atp1a3
 Sodium potassium ATPase alpha 3 subunit
 Mus musculus
 Unknown
 
 1
 2
 
  Brinp1
 BMP/RA-inducible neural-specific protein 1
 Mus musculus
 Unknown
 1
 3
 
  Cc2d1a
 Coiled-coil and C2 domain containing 1A
 Mus musculus
 
 1
 5
 
  Dmpk
 dystrophia myotonica-protein kinase
 Mus musculus
 Unknown
 1
 2
 
 growth arrest and DNA-damage-inducible 45 beta
 Mus musculus
 
 1
 1
 
 growth arrest and DNA-damage-inducible, beta
 Rattus norvegicus
 
 1
 1
 
  Grin1
 glutamate receptor, ionotropic, NMDA1 (zeta 1)
 Mus musculus
 
 3
 7
 
  Mbd3
 methyl-CpG binding domain protein 3
 Mus musculus
 Unknown
 1
 1
 
 peptidoglycan recognition protein 2
 Mus musculus
 
 1
 1
 
  Plaur
 plasminogen activator, urokinase receptor
 Mus musculus
 Unknown
 1
 1
 
  Shank1
 SH3/ankyrin domain gene 1
 Mus musculus
 Unknown
 3
 2
 
  Tsc1
 Tuberous sclerosis 1
 Mus musculus
 Unknown
 9
 17
 
  Tshz3
 Teashirt zinc finger family member 3
 Mus musculus
 
 1
 2
 
  Vldlr
 very low density lipoprotein receptor
 Rattus norvegicus
 Unknown
 1
 1

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
actinin, alpha 4
8
annexin A1
55
Rho GTPase-activating protein 33
5
astrotactin 2
4
ATPase Na+/K+ transporting subunit alpha 3
9
coiled-coil and C2 domain containing 1A
13
death-associated protein kinase 1
4
dystrophia myotonica-protein kinase
18
euchromatic histone-lysine N-methyltransferase 1
5013
ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)
167
Growth arrest and DNA damage-inducible protein GADD45 beta
17
glutamate receptor, ionotropic, N-methyl D-aspartate 1
65
potassium channel, subfamily T, member 1
3
kaptin (actin binding protein)
30
LIM homeobox transcription factor 1, beta
27
methyl-CpG binding domain protein 3
47
outer dense fiber of sperm tails 3-like 2
6
PHD finger protein 2
5
plasminogen activator, urokinase receptor
108
SH3 and multiple ankyrin repeat domains 1
20
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
38
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
24
synaptotagmin III
19
tuberous sclerosis 1
118
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