increased startle reflex Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch (Mammalian Phenotype Ontology, MP_0001488)
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77 gene mutations causing the increased startle reflex phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2
ADRA2C adrenoceptor alpha 2C
AFM afamin
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
APOE apolipoprotein E
ATF7 activating transcription factor 7
B3GALT2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2
BRE brain and reproductive organ-expressed (TNFRSF1A modulator)
BRPF1 bromodomain and PHD finger containing, 1
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CAPN5 calpain 5
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CNTNAP4 contactin associated protein-like 4
CPLX2 complexin 2
CTNNA2 catenin (cadherin-associated protein), alpha 2
DRD1 dopamine receptor D1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELMOD1 ELMO/CED-12 domain containing 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FAM117B family with sequence similarity 117, member B
FAM134C family with sequence similarity 134, member C
FAM83G family with sequence similarity 83, member G
FBXO11 F-box protein 11
FIGN fidgetin
FMR1 fragile X mental retardation 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNG7 guanine nucleotide binding protein (G protein), gamma 7
GRIK5 glutamate receptor, ionotropic, kainate 5
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GSTA3 glutathione S-transferase alpha 3
HBP1 HMG-box transcription factor 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNJ12 potassium channel, inwardly rectifying subfamily J, member 12
LIMK2 LIM domain kinase 2
LOC102724788 proline dehydrogenase 1, mitochondrial
MARC2 mitochondrial amidoxime reducing component 2
MARCH9 membrane-associated ring finger (C3HC4) 9
MAT2A methionine adenosyltransferase II, alpha
MECOM MDS1 and EVI1 complex locus
MID1 midline 1
MRO maestro
NPC1 Niemann-Pick disease, type C1
NUP88 nucleoporin 88kDa
NXPH3 neurexophilin 3
OTOP3 otopetrin 3
PACS2 phosphofurin acidic cluster sorting protein 2
PARL presenilin associated, rhomboid-like
PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PREP prolyl endopeptidase
PREX2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
PSEN1 presenilin 1
PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa
RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3
RLN3 relaxin 3
SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
SEPT5 septin 5
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SRR serine racemase
STARD10 StAR-related lipid transfer (START) domain containing 10
STX1A syntaxin 1A (brain)
SYNGAP1 synaptic Ras GTPase activating protein 1
TBC1D2B TBC1 domain family, member 2B
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TTLL4 tubulin tyrosine ligase-like family member 4
UCN urocortin
WTAP Wilms tumor 1 associated protein
ZIC2 Zic family member 2