abnormal temporal bone morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous (Mammalian Phenotype Ontology, MP_0005272)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005272
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41 gene mutations causing the abnormal temporal bone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALX1 ALX homeobox 1
ANKH ANKH inorganic pyrophosphate transport regulator
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
CHRD chordin
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FOXC2 forkhead box C2
FOXI1 forkhead box I1
FOXI3 forkhead box I3
GBX2 gastrulation brain homeobox 2
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HMX1 H6 family homeobox 1
HOXA2 homeobox A2
ISL1 ISL LIM homeobox 1
MN1 meningioma (disrupted in balanced translocation) 1
NOG noggin
OTX2 orthodenticle homeobox 2
PBX1 pre-B-cell leukemia homeobox 1
PHEX phosphate regulating endopeptidase homolog, X-linked
POU3F3 POU class 3 homeobox 3
POU3F4 POU class 3 homeobox 4
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRX1 paired related homeobox 1
RARA retinoic acid receptor, alpha
RSPO2 R-spondin 2
SATB2 SATB homeobox 2
SCUBE1 signal peptide, CUB domain, EGF-like 1
SIX1 SIX homeobox 1
TBX1 T-box 1
TBX15 T-box 15
TCOF1 Treacher Collins-Franceschetti syndrome 1
TGFB2 transforming growth factor, beta 2
TWIST1 twist family bHLH transcription factor 1