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Human Gene Search Results


Unique ID
Gene Symbol
Gene Name
Chromosome Loc
Genetic Category
# of Reports
Primary Reference
Display
 
  GEN289
  AFF2
  AF4/FMR2 family, member 2
  X
  Syndromic
  13
  Edit
 
  GEN007
  AGTR2
  angiotensin II receptor, type 2
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN531
  AP1S2
  Adaptor-related protein complex 1, sigma 2 subunit
  X
  Syndromic
  5
  Edit
 
  GEN014
  AR
  androgen receptor
  X
  Genetic Association
  6
  Edit
 
  GEN715
  Cdc42 guanine nucleotide exchange factor (GEF) 9
  X
  Rare single gene variant
  4
  Edit
 
  GEN017
  ARX
  aristaless related homeobox
  X
  Rare single gene variant
  12
  Edit
 
  GEN018
  ASMT
  acetylserotonin O-methyltransferase
  X,Y
  Rare Single Gene variant, Genetic Association
  9
  Edit
 
  GEN288
  ATRX
  alpha thalassemia/mental retardation syndrome X-linked
  X
  Syndromic
  13
  Edit
 
  GEN033
  calcium channel, voltage-dependent, alpha 1F
  X
  Genetic Association
  7
  Edit
 
  GEN876
  CASK
  calcium/calmodulin dependent serine protein kinase 
  X
  Syndromic
  7
  Edit
 
  GEN380
  CD99L2
  CD99 molecule-like 2
  X
  Genetic association
  1
  Edit
 
  GEN046
  CDKL5
  cyclin-dependent kinase-like 5
  X
  Syndromic
  28
  Edit
 
  GEN865
  CNKSR2
  connector enhancer of kinase suppressor of Ras 2
  X
 
  1
  Edit
 
  GEN055
  CXCR3
  chemokine (C-X-C motif) receptor 3
  X
  Rare Single Gene variant
  8
  Edit
 
  GEN061
  DCX
  doublecortex, lissencephaly, X-linked (doublecortin)
  X
  Rare Single Gene variant
  6
  Edit
 
  GEN745
  DDX3X
  DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
  X
  Rare single gene variant
  4
  Edit
 
  GEN332
  DDX53
  DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN833
  DGKK
  diacylglycerol kinase kappa 
  X
  Functional
  1
  Edit
 
  GEN070
  DMD
  dystrophin (muscular dystrophy, Duchenne and Becker types)
  X
  Syndromic
  34
  Edit
 
  GEN287
  FGD1
  FYVE, RhoGEF and PH domain containing 1
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN093
  FMR1
  fragile X mental retardation 1
  X
  Functional
  39
  Edit
 
  GEN098
  FRMPD4
  FERM and PDZ domain containing 4
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN481
  GABRA3
  Gamma-aminobutyric acid (GABA) A receptor, alpha 3
  X
  Rare Single Gene variant
  1
  Edit
 
  GEN480
  GABRQ
  Gamma-aminobutyric acid (GABA) A receptor, theta
  X
  Rare Single Gene variant
  1
  Edit
 
  GEN104
  GLRA2
  glycine receptor, alpha 2
  X
  Rare Single Gene variant
  11
  Edit
 
  GEN849
  GPC4
  glypican 4
  X
  Rare single gene variant
  1
  Edit
 
  GEN114
  GRPR
  Gastrin-releasing peptide receptor
  X
  Genetic Association
  7
  Edit
 
  GEN430
  HCFC1
  Host cell factor C1 (VP16-accessory protein)
  X
  Syndromic
  6
  Edit
 
  GEN482
  HDAC6
  Histone deacetylase 6
  X
  Rare Single Gene variant
  2
  Edit
 
  GEN121
  heterogeneous nuclear ribonucleoprotein H2 (H')
  X
  Rare Single Gene variant
  4
  Edit
 
  GEN432
  HUWE1
  HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
  X
  Syndromic
  7
  Edit
 
  GEN133
  interleukin 1 receptor accessory protein-like 1
  X
  Rare single gene variant
  19
  Edit
 
  GEN302
  interleukin 1 receptor accessory protein-like 2
  X
  Genetic Association
  2
  Edit
 
  GEN542
  IQSEC2
  IQ motif and Sec7 domain 2
  X
  Syndromic
  13
  Edit
 
  GEN435
  KDM5C
  Lysine (K)-specific demethylase 5C
  X
  Syndromic
  18
  Edit
 
  GEN538
  KIAA2022
  X
  Rare single gene variant
  13
  Edit
 
  GEN405
  MAGED1
  Melanoma antigen family D, 1
  X
  Functional
  1
  Edit
 
  GEN149
  MAOA
  monoamine oxidase A
  X
  Genetic Association
  13
  Edit
 
  GEN524
  MAOB
  Monoamine oxidase B
  X
  Multigenic CNV
  3
  Edit
 
  GEN157
  MECP2
  Methyl CpG binding protein 2
  X
  Syndromic
  58
  Edit
 
  GEN158
  MED12
  mediator complex subunit 12
  X
  Genetic Association
  18
  Edit
 
  GEN379
  MSN
  Moesin
  X
  Functional
  1
  Edit
 
  GEN171
  NLGN3
  neuroligin 3
  X
  Rare Single Gene variant
  31
  Edit
 
  GEN172
  NLGN4X
  neuroligin 4, X-linked
  X
  Rare Single Gene variant
  27
  Edit
 
  GEN483
  NXF5
  Nuclear RNA export factor 5
  X
  Rare Single Gene variant
  4
  Edit
 
  GEN818
  OCRL
  oculocerebrorenal syndrome of Lowe
  X
  Syndromic
  4
  Edit
 
  GEN547
  OGT
  O-linked N-acetylglucosamine (GlcNAc) transferase
  X
  Functional
  4
  Edit
 
  GEN184
  OPHN1
  oligophrenin 1
  X
  Rare Single Gene variant
  9
  Edit
 
  GEN190
  PCDH19
  protocadherin 19
  X
  Syndromic
  17
  Edit
 
  GEN192
  PDZD4
  PDZ domain containing 4
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN456
  PHF8
  PHD finger protein 8
  X
  Syndromic
  7
  Edit
 
  GEN200
  protein phosphatase 1, regulatory (inhibitor) subunit 3F
  X
  Rare Single Gene variant
  3
  Edit
 
  GEN202
  PSMD10
  proteasome (prosome, macropain) 26S subunit, non-ATPase, 10
  X
  Rare Single Gene variant
  6
  Edit
 
  GEN203
  PTCHD1
  patched domain containing 1
  X
  Rare Single Gene variant
  11
  Edit
 
  GEN207
  RAB39B
  RAB39B, member RAS oncogene family
  X
  Rare Single Gene variant
  7
  Edit
 
  GEN216
  RHOXF1
  Rhox homeobox family, member 1
  X
  Genetic Association
  3
  Edit
 
  GEN708
  RLIM
  Ring finger protein, LIM domain interacting
  X
  Rare single gene variant
  2
  Edit
 
  GEN220
  RPL10
  ribosomal protein L10
  X
  Rare single gene variant
  11
  Edit
 
  GEN591
  Ribosomal protein S6 kinase, 90kDa, polypeptide 3
  X
  Syndromic
  9
  Edit
 
  GEN228
  SH3-domain kinase binding protein 1
  X
  Rare Single Gene variant
  4
  Edit
 
  GEN821
  SHOX
  short stature homeobox
  X,Y
  Rare single gene variant
  2
  Edit
 
  GEN463
  Solute carrier family 25 (mitochondrial carrier, brain), member 14
  X
  Functional
  1
  Edit
 
  GEN236
  SLC6A8
  solute carrier family 6 (neurotransmitter transporter, creatine), member 8
  X
  Rare Single Gene variant
  9
  Edit
 
  GEN744
  SLC7A3
  Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3
  X
  Rare single gene variant
  2
  Edit
 
  GEN237
  SLC9A6
  solute carrier family 9 (sodium/hydrogen exchanger), member 6
  X
  Syndromic
  11
  Edit
 
  GEN504
  SYAP1
  Synapse associated protein 1
  X
  Rare single gene variant
  2
  Edit
 
  GEN243
  SYN1
  Synapsin 1
  X
  Rare Single Gene variant
  16
  Edit
 
  GEN792
  TAF1
  TATA-box binding protein associated factor 1
  X
  Rare single gene variant
  3
  Edit
 
  GEN301
  TBL1X
  transducin (beta)-like 1X-linked
  X
  Genetic Association
  1
  Edit
 
  GEN269
  TMLHE
  trimethyllysine hydroxylase, epsilon
  X
  Rare Single Gene variant
  5
  Edit
 
  GEN259
  TSPAN7
  tetraspanin 7
  X
  Rare Single Gene variant
  7
  Edit
 
  GEN364
  UPF3B
  UPF3 regulator of nonsense transcripts homolog B (yeast)
  X
  Syndromic
  10
  Edit
 
  GEN751
  VSIG4
  V-set and immunoglobulin domain containing 4
  X
  Rare single gene variant
  2
  Edit
 
  GEN264
  WNK3
  WNK lysine deficient protein kinase 3
  X
  Rare Single Gene variant
  6
  Edit

 

Gene Score Search Results


Gene Symbol
Gene Name
Chromosomal Location
Category ID
Action
 
  AFF2
 AF4/FMR2 family, member 2
 Xq28
 4
 
  AGTR2
 angiotensin II receptor, type 2
 Xq23
 4
 
  AR
 androgen receptor
 Xq12
 4
 
  ARX
 aristaless related homeobox
 Xp21.3
 S
 
  ASMT
 acetylserotonin O-methyltransferase
 Xp22.33
 4
 
  ATRX
 alpha thalassemia/mental retardation syndrome X-linked
 Xq21.1
 4
 
 calcium channel, voltage-dependent, alpha 1F
 Xp11.23
 4
 
  CASK
 calcium/calmodulin dependent serine protein kinase 
 Xp11.4
 4
 
  CDKL5
 cyclin-dependent kinase-like 5
 Xp22.13
 S
 
  CNKSR2
 connector enhancer of kinase suppressor of Ras 2
 Xp22.12
 3S
 
  CXCR3
 chemokine (C-X-C motif) receptor 3
 Xq13.1
 5
 
  DDX3X
 DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
 Xp11.4
 3S
 
  DDX53
 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
 Xp22.11
 4
 
  DGKK
 diacylglycerol kinase kappa 
 Xp11.22
 5
 
  DMD
 dystrophin (muscular dystrophy, Duchenne and Becker types)
 Xp21.2-p21.1
 S
 
  FGD1
 FYVE, RhoGEF and PH domain containing 1
 Xp11.22
 5
 
  FMR1
 fragile X mental retardation 1
 Xq27.3
 S
 
  FRMPD4
 FERM and PDZ domain containing 4
 Xp22.2
 5
 
  GABRQ
 Gamma-aminobutyric acid (GABA) A receptor, theta
 Xq28
 5
 
  GLRA2
 glycine receptor, alpha 2
 Xp22.2
 5
 
  GPC4
 glypican 4
 Xq26.2
 3
 
  GRPR
 Gastrin-releasing peptide receptor
 Xp22.2
 5
 
 heterogeneous nuclear ribonucleoprotein H2 (H')
 Xq22.1
 4
 
 interleukin 1 receptor accessory protein-like 1
 Xp21.3-p21.2
 4
 
 interleukin 1 receptor accessory protein-like 2
 Xq22.3
 4
 
  IQSEC2
 IQ motif and Sec7 domain 2
 Xp11.22
 4S
 
  KDM5C
 Lysine (K)-specific demethylase 5C
 Xp11.22
 3
 
 KIAA2022
 Xq13.3
 3
 
  MAGED1
 Melanoma antigen family D, 1
 Xp11.22
 5
 
  MAOA
 monoamine oxidase A
 Xp11.3
 4
 
  MECP2
 Methyl CpG binding protein 2
 Xq28
 2S
 
  MED12
 mediator complex subunit 12
 Xq13.1
 6
 
  MSN
 Moesin
 Xq12
 5
 
  NLGN3
 neuroligin 3
 Xq13.1
 2
 
  NLGN4X
 neuroligin 4, X-linked
 Xp22.32-p22.31
 3
 
  OCRL
 oculocerebrorenal syndrome of Lowe
 Xq26.1
 S
 
  OPHN1
 oligophrenin 1
 Xq12
 3
 
  PCDH19
 protocadherin 19
 Xq22.1
 S
 
  PDZD4
 PDZ domain containing 4
 Xq28
 5
 
 protein phosphatase 1, regulatory (inhibitor) subunit 3F
 Xp11.23
 5
 
  PSMD10
 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10
 Xq22.3
 5
 
  PTCHD1
 patched domain containing 1
 Xp22.11
 2
 
  RAB39B
 RAB39B, member RAS oncogene family
 Xq28
 4
 
  RHOXF1
 Rhox homeobox family, member 1
 Xq24
 4
 
  RPL10
 ribosomal protein L10
 Xq28
 4
 
 Ribosomal protein S6 kinase, 90kDa, polypeptide 3
 Xp22.12
 4S
 
 SH3-domain kinase binding protein 1
 Xp22.12
 5
 
  SHOX
 short stature homeobox
 Yp11.2
 3
 
 Solute carrier family 25 (mitochondrial carrier, brain), member 14
 Xq26.1
 5
 
  SLC6A8
 solute carrier family 6 (neurotransmitter transporter, creatine), member 8
 Xq28
 4
 
  SLC7A3
 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3
 Xq13.1
 3
 
  SLC9A6
 solute carrier family 9 (sodium/hydrogen exchanger), member 6
 Xq26.3
 S
 
  SYN1
 Synapsin 1
 Xp11.3-p11.23
 4
 
  TAF1
 TATA-box binding protein associated factor 1
 Xq13.1
 S
 
  TBL1X
 transducin (beta)-like 1X-linked
 Xp22.31-p22.2
 4
 
  TMLHE
 trimethyllysine hydroxylase, epsilon
 Xq28
 3
 
  TSPAN7
 tetraspanin 7
 Xp11.4
 4
 
  UPF3B
 UPF3 regulator of nonsense transcripts homolog B (yeast)
 Xq24
 S
 
  VSIG4
 V-set and immunoglobulin domain containing 4
 Xq12
 4
 
  WNK3
 WNK lysine deficient protein kinase 3
 Xp11.22
 4

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Arx
 aristaless related homeobox
 Mus musculus
 Unknown
 3
 4
 
 Calcium channel, voltage dependent, alpha 1F subunit
 Mus musculus
 
 1
 1
 
  Cdkl5
 cyclin-dependent kinase-like 5
 Mus musculus
 
 1
 2
 
  Cxcr3
 chemokine (C-X-C motif) receptor 3
 Mus musculus
 Unknown
 1
 1
 
  Dmd
 Dystrophin, muscular dystrophy
 Mus musculus
 Unknown
 5
 6
 
  Fmr1
 fragile X mental retardation syndrome 1 homolog
 Mus musculus
 Unknown
 30
 36
 
  Fmr1
 fragile X mental retardation syndrome 1 homolog
 Rattus norvegicus
 Unknown
 1
 1
 
  Glra2
 glycine receptor, alpha 2 subunit
 Mus musculus
 Unknown
 1
 1
 
  Grpr
 gastrin releasing peptide receptor
 Mus musculus
 Unknown
 3
 5
 
 interleukin 1 receptor accessory protein-like 1
 Mus musculus
 Unknown
 2
 2
 
  Maoa
 Monoamine Oxidase A
 Mus musculus
 Unknown
 3
 3
 
  Mecp2
 methyl CpG binding protein 2
 Mus musculus
 Unknown
 30
 62
 
  Mecp2
 methyl CpG binding protein 2
 Rattus norvegicus
 Unknown
 4
 1
 
  Nlgn3
 neuroligin 3
 Mus musculus
 Yes
 7
 17
 
  Nlgn3
 neuroligin 3
 Rattus norvegicus
 Yes
 1
 1
 
  Nlgn4x
 neuroligin 4-like
 Mus musculus
 Unknown
 2
 3
 
  Nxf7
 Nuclear RNA export factor 7
 Mus musculus
 
 1
 1
 
  Ophn1
 Oligophrenin 1
 Mus musculus
 Unknown
 1
 1
 
  Ptchd1
 Patched domain containing 1
 Mus musculus
 
 1
 5
 
 ribosomal protein S6 kinase polypeptide 3
 Mus musculus
 
 1
 1
 
  Slc6a8
 Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
 Mus musculus
 Xq28
 1
 2
 
  Slc9a6
 solute carrier family 9 (sodium/hydrogen exchanger), member 6
 Mus musculus
 
 3
 3
 
  Syn1
 Synapsin I
 Mus musculus
 
 1
 1

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
AF4/FMR2 family, member 2
3
angiotensin II receptor, type 2
2
AR
androgen receptor
19
Cdc42 guanine nucleotide exchange factor (GEF) 9
3
ARX
aristaless related homeobox
1010
alpha thalassemia/mental retardation syndrome X-linked
7
Voltage-dependent L-type calcium channel subunit alpha-1F
6
cyclin-dependent kinase-like 5
23
DCX
doublecortin
19
DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
5
DMD
dystrophin
70
fragile X mental retardation 1
9286
gamma-aminobutyric acid (GABA) A receptor, theta
1
gastrin-releasing peptide receptor
56
host cell factor C1 (VP16-accessory protein)
17
histone deacetylase 6
10
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
5
interleukin 1 receptor accessory protein-like 1
7
lysine (K)-specific demethylase 5C
17
melanoma antigen family D, 1
34
monoamine oxidase A
4
methyl CpG binding protein 2 (Rett syndrome)
522
MSN
moesin
88
neuroligin 3
95
neuroligin 4, X-linked
5
OGT
O-linked N-acetylglucosamine (GlcNAc) transferase
15
oligophrenin 1
9
protocadherin 19
5
PHD finger protein 8
35
patched domain containing 1
1
RAB39B, member RAS oncogene family
29
Rhox homeobox family, member 1
2
ribosomal protein L10
15
SH3-domain kinase binding protein 1
33
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
9
solute carrier family 9 (sodium/hydrogen exchanger), member 6
32
Synapsin-1
12
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
6
transducin (beta)-like 1X-linked
29
trimethyllysine hydroxylase, epsilon
4
tetraspanin 7
6
UPF3 regulator of nonsense transcripts homolog B (yeast)
40
WNK lysine deficient protein kinase 3
4
X-linked interleukin-1 receptor accessory protein-like 2
0
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