abnormal auditory brainstem response waveform shape Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts (Mammalian Phenotype Ontology, MP_0011966)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011966
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Genes

32 gene mutations causing the abnormal auditory brainstem response waveform shape phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABHD12 abhydrolase domain containing 12
AQP4 aquaporin 4
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
CASP3 caspase 3, apoptosis-related cysteine peptidase
CLDN11 claudin 11
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
CPLX1 complexin 1
CSF1 colony stimulating factor 1 (macrophage)
DFNB59 deafness, autosomal recessive 59
DMD dystrophin
DNM1 dynamin 1
FBXO2 F-box protein 2
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GJC3 gap junction protein, gamma 3, 30.2kDa
HPN hepsin
IGF1 insulin-like growth factor 1 (somatomedin C)
LARGE like-glycosyltransferase
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LRRC4 leucine rich repeat containing 4
MBP myelin basic protein
NIPBL Nipped-B homolog (Drosophila)
NTNG2 netrin G2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SOD1 superoxide dismutase 1, soluble
SPRY2 sprouty homolog 2 (Drosophila)
SPTBN4 spectrin, beta, non-erythrocytic 4