abnormal outer ear morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any components of the auricles or external acoustic meatus (Mammalian Phenotype Ontology, MP_0002177)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002177
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Genes

94 gene mutations causing the abnormal outer ear morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACD adrenocortical dysplasia homolog (mouse)
ACHE acetylcholinesterase (Yt blood group)
AP3B1 adaptor-related protein complex 3, beta 1 subunit
BCL2 B-cell CLL/lymphoma 2
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMP5 bone morphogenetic protein 5
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CDO1 cysteine dioxygenase type 1
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
COL1A1 collagen, type I, alpha 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTSV cathepsin V
DDR1 discoidin domain receptor tyrosine kinase 1
DLX5 distal-less homeobox 5
ECE1 endothelin converting enzyme 1
EDARADD EDAR-associated death domain
EDN1 endothelin 1
EDNRA endothelin receptor type A
EGFR epidermal growth factor receptor
EIF3C eukaryotic translation initiation factor 3, subunit C
EYA1 EYA transcriptional coactivator and phosphatase 1
FBXO11 F-box protein 11
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FLG filaggrin
FOXI3 forkhead box I3
FOXP2 forkhead box P2
FOXP3 forkhead box P3
FREM2 FRAS1 related extracellular matrix protein 2
GLI3 GLI family zinc finger 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GSC goosecoid homeobox
HFM Hemifacial microsomia
HIC1 hypermethylated in cancer 1
HMGA2 high mobility group AT-hook 2
HMX1 H6 family homeobox 1
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXA5 homeobox A5
HPS1 Hermansky-Pudlak syndrome 1
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HTT huntingtin
IDUA iduronidase, alpha-L-
IRF6 interferon regulatory factor 6
JAK1 Janus kinase 1
KAT6B K(lysine) acetyltransferase 6B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KMT2A lysine (K)-specific methyltransferase 2A
KRT10 keratin 10, type I
KRT2 keratin 2, type II
LAMC2 laminin, gamma 2
LMNA lamin A/C
LRP6 low density lipoprotein receptor-related protein 6
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MSX2 msh homeobox 2
MYO5A myosin VA (heavy chain 12, myoxin)
NCOA3 nuclear receptor coactivator 3
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
OCA2 oculocutaneous albinism II
PAX6 paired box 6
PAX8 paired box 8
PBX1 pre-B-cell leukemia homeobox 1
PGAP1 post-GPI attachment to proteins 1
PLAU plasminogen activator, urokinase
POLH polymerase (DNA directed), eta
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRX1 paired related homeobox 1
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
RPL27A ribosomal protein L27a
SFN stratifin
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SPTBN1 spectrin, beta, non-erythrocytic 1
TBX1 T-box 1
TBX15 T-box 15
TCF15 transcription factor 15 (basic helix-loop-helix)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TSHZ1 teashirt zinc finger homeobox 1
TWIST2 twist family bHLH transcription factor 2
TWSG1 twisted gastrulation BMP signaling modulator 1
TYRP1 tyrosinase-related protein 1
WNT5A wingless-type MMTV integration site family, member 5A
ZIC3 Zic family member 3