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Human Gene Search Results


Unique ID
Gene Symbol
Gene Name
Chromosome Loc
Genetic Category
# of Reports
Primary Reference
Display
 
  GEN577
  ASXL3
  Additional sex combs like 3 (Drosophila)
  18
  Syndromic
  8
  Edit
 
  GEN025
  BCL2
  B-cell CLL/lymphoma 2
  18
  Functional
  10
  Edit
 
  GEN487
  CELF4
  CUGBP, Elav-like family member 4
  18
  Functional
  6
  Edit
 
  GEN280
  CHD7
  chromodomain helicase DNA binding protein 7
  8
  Syndromic
  17
  Edit
 
  GEN498
  CHRNB3
  Cholinergic receptor, nicotinic, beta 3 (neuronal)
  8
  Rare single gene variant
  1
  Edit
 
  GEN710
  CLN8
  Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
  8
  Syndromic
  3
  Edit
 
  GEN596
  CSMD1
  CUB and Sushi multiple domains 1
  8
  Rare Single Gene variant
  9
  Edit
 
  GEN056
  cytochrome P450, family 11, subfamily B, polypeptide 1
  8
  Syndromic
  4
  Edit
 
  GEN677
  DLGAP1
  Discs, large (Drosophila) homolog-associated protein 1
  18
  Rare single gene variant
  5
  Edit
 
  GEN066
  DLGAP2
  discs, large (Drosophila) homolog-associated protein 2
  8
  Rare Single Gene variant
  12
  Edit
 
  GEN613
  EFR3A
  EFR3 homolog A (S. cerevisiae)
  8
  Rare Single Gene variant
  5
  Edit
 
  GEN361
  EXT1
  Exostosin 1
  8
  Rare single gene variant
  4
  Edit
 
  GEN086
  FABP5
  fatty acid binding protein 5 (psoriasis-associated)
  8
  Rare Single Gene variant, Genetic Association
  6
  Edit
 
  GEN428
  Family with sequence similarity 135, member B
  8
  Genetic association
  2
  Edit
 
  GEN315
  FBXO15
  F-box protein 15
  18
  Rare Single Gene variant
  2
  Edit
 
  GEN747
  KAT6A
  K(lysine) acetyltransferase 6A
  8
  Rare single gene variant
  7
  Edit
 
  GEN369
  Katanin p60 subunit A-like 2
  18
  Rare Single Gene variant
  7
  Edit
 
  GEN536
  KCNQ3
  Potassium voltage-gated channel, KQT-like subfamily, member 3
  8
  Genetic association
  6
  Edit
 
  GEN834
  KH RNA binding domain containing, signal transduction associated 3
  8
  Functional
  2
  Edit
 
  GEN688
  KIF13B
  Kinesin family member 13B
  8
  Rare single gene variant
  3
  Edit
 
  GEN403
  LAMA1
  Laminin, alpha 1
  18
  Genetic association
  4
  Edit
 
  GEN689
  LPL
  Lipoprotein lipase
  8
  Rare single gene variant
  1
  Edit
 
  GEN152
  MBD1
  methyl-CpG binding domain protein 1
  18
  Rare Single Gene variant
  7
  Edit
 
  GEN551
  MC4R
  Melanocortin 4 receptor
  18
  Functional
  2
  Edit
 
  GEN811
  MCM4
  minichromosome maintenance complex component 4 
  8
  Rare single gene variant
  2
  Edit
 
  GEN155
  MCPH1
  microcephalin 1
  8
  Rare Single Gene variant
  13
  Edit
 
  GEN660
  MIB1
  Mindbomb E3 ubiquitin protein ligase 1
  18
  Rare single gene variant
  3
  Edit
 
  GEN746
  MOCOS
  Molybdenum cofactor sulfurase
  18
  Rare single gene variant
  2
  Edit
 
  GEN335
  MSR1
  macrophage scavenger receptor 1
  8
  Rare Single Gene variant
  2
  Edit
 
  GEN439
  NEFL
  Neurofilament, light polypeptide
  8
  Genetic association/functional
  1
  Edit
 
  GEN628
  NRG1
  Neuregulin 1
  8
  Functional
  4
  Edit
 
  GEN195
  PINX1
  PIN2/TERF1 interacting, telomerase inhibitor 1
  8
  Rare Single Gene variant
  5
  Edit
 
  GEN839
  PRKDC
  protein kinase, DNA-activated, catalytic polypeptide
  8
  Syndromic
  3
  Edit
 
  GEN329
  PSD3
  pleckstrin and Sec7 domain containing 3
  8
  Rare Single Gene variant
  4
  Edit
 
  GEN807
  RAB2A
  RAB2A, member RAS oncogene family
  8
  Rare single gene variant
  6
  Edit
 
  GEN210
  RB1CC1
  RB1-inducible coiled-coil 1
  8
  Rare Single Gene variant
  3
  Edit
 
  GEN815
  RIT2
  Ras-like without CAAX 2
  18
  Genetic association
  3
  Edit
 
  GEN225
  SDC2
  syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )
  8
  Rare Single Gene variant
  3
  Edit
 
  GEN640
  SETBP1
  SET binding protein 1
  18
  Rare single gene variant
  9
  Edit
 
  GEN727
  TBC1 domain family, member 31
  8
  Rare single gene variant
  2
  Edit
 
  GEN592
  TCF4
  Transcription factor 4
  18
  Syndromic
  28
  Edit
 
  GEN565
  TTI2
  TELO2 interacting protein 2
  8
  Rare single gene variant
  1
  Edit
 
  GEN469
  UBR5
  Ubiquitin protein ligase E3 component n-recognin 5
  8
  Rare single gene variant
  5
  Edit
 
  GEN281
  VPS13B
  vacuolar protein sorting 13 homolog B (yeast)
  8
  Syndromic
  16
  Edit
 
  GEN484
  ZNF407
  Zinc finger protein 407
  18
  Rare Single Gene variant
  5
  Edit
 
  GEN499
  ZNF517
  Zinc finger protein 517
  8
  Rare single gene variant
  2
  Edit

 

Gene Score Search Results


Gene Symbol
Gene Name
Chromosomal Location
Category ID
Action
 
  ASXL3
 Additional sex combs like 3 (Drosophila)
 18q12.1
 1S
 
  BCL2
 B-cell CLL/lymphoma 2
 18q21.33
 6
 
  CHD7
 chromodomain helicase DNA binding protein 7
 8q12.2
 S
 
  CLN8
 Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
 8p23.3
 4
 
 cytochrome P450, family 11, subfamily B, polypeptide 1
 8q24.3
 4
 
  DLGAP2
 discs, large (Drosophila) homolog-associated protein 2
 8p23.3
 4
 
  EFR3A
 EFR3 homolog A (S. cerevisiae)
 8q24.22
 3
 
  EXT1
 Exostosin 1
 8q24.11
 4
 
  FABP5
 fatty acid binding protein 5 (psoriasis-associated)
 8q21.13
 4
 
  KAT6A
 K(lysine) acetyltransferase 6A
 8p11.21
 3S
 
 Katanin p60 subunit A-like 2
 18q21.1
 1
 
  KCNQ3
 Potassium voltage-gated channel, KQT-like subfamily, member 3
 8q24.22
 3
 
 KH RNA binding domain containing, signal transduction associated 3
 8q24.23
 5
 
  LAMA1
 Laminin, alpha 1
 18p11.31
 4
 
  MBD1
 methyl-CpG binding domain protein 1
 18q21.1
 4
 
  MCM4
 minichromosome maintenance complex component 4 
 8q11.21
 4
 
  MCPH1
 microcephalin 1
 8p23.1
 4
 
  MIB1
 Mindbomb E3 ubiquitin protein ligase 1
 18q11.2
 4
 
  MOCOS
 Molybdenum cofactor sulfurase
 18q12.2
 5
 
  MSR1
 macrophage scavenger receptor 1
 8p22
 4
 
  NEFL
 Neurofilament, light polypeptide
 8p21.2
 5
 
  NRG1
 Neuregulin 1
 8p12
 5
 
  PINX1
 PIN2/TERF1 interacting, telomerase inhibitor 1
 8p23.1
 5
 
  PRKDC
 protein kinase, DNA-activated, catalytic polypeptide
 8q11.21
 4
 
  PSD3
 pleckstrin and Sec7 domain containing 3
 8p22
 4
 
  RAB2A
 RAB2A, member RAS oncogene family
 8q12.1-q12.2
 3
 
  RB1CC1
 RB1-inducible coiled-coil 1
 8q11.23
 5
 
  RIT2
 Ras-like without CAAX 2
 18q12.3
 4
 
  SDC2
 syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )
 8q22.1
 4
 
  SETBP1
 SET binding protein 1
 18q12.3
 3
 
  TCF4
 Transcription factor 4
 18q21.2
 S
 
  UBR5
 Ubiquitin protein ligase E3 component n-recognin 5
 8q22.3
 3
 
  VPS13B
 vacuolar protein sorting 13 homolog B (yeast)
 8q22.2
 S

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Celf4
 CUGBP, Elav-like family member 4
 Mus musculus
 
 1
 7
 
  Chd7
 chromodomain helicase DNA binding protein 7
 Mus musculus
 
 2
 4
 
  Ext1
 exostoses (multiple) 1
 Mus musculus
 
 1
 1
 
  Mcph1
 microcephaly, primary autosomal recessive 1
 Mus musculus
 Unknown
 1
 2
 
  Nrg1
 neuregulin 1
 Mus musculus
 
 1
 1
 
  Prkdc
 Protein kinase, DNA activated, catalytic peptide
 Mus musculus
 
 1
 2
 
  Tcf4
 transcription factor 4
 Mus musculus
 
 1
 3
 
  Tcf4
 transcription factor 4
 Rattus norvegicus
 
 1
 4

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
additional sex combs like 3 (Drosophila)
2
chromodomain helicase DNA binding protein 7
110
cytochrome P450, family 11, subfamily B, polypeptide 1
4
Disks large-associated protein 2
11
exostosin 1
27
fatty acid binding protein 5 (psoriasis-associated)
3
katanin p60 subunit A-like 2
3
potassium voltage-gated channel, KQT-like subfamily, member 3
5
KH domain containing, RNA binding, signal transduction associated 3
15
methyl-CpG binding domain protein 1
32
melanocortin 4 receptor
1
microcephalin 1
12
mindbomb E3 ubiquitin protein ligase 1
364
macrophage scavenger receptor 1
19
Pro-neuregulin-1, membrane-bound isoform
41
pleckstrin and Sec7 domain containing 3
8
RB1-inducible coiled-coil 1
40
syndecan 2
68
SET binding protein 1
17
transcription factor 4
167
TELO2 interacting protein 2
2
ubiquitin protein ligase E3 component n-recognin 5
15
vacuolar protein sorting 13 homolog B (yeast)
14
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