abnormal sphenoid bone morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the irregularly shaped bone of the base of the skull (Mammalian Phenotype Ontology, MP_0000104)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000104
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Genes

63 gene mutations causing the abnormal sphenoid bone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALX1 ALX homeobox 1
APAF1 apoptotic peptidase activating factor 1
ARID5B AT rich interactive domain 5B (MRF1-like)
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BNC2 basonuclin 2
CDON cell adhesion associated, oncogene regulated
CHRD chordin
CHUK conserved helix-loop-helix ubiquitous kinase
CSRNP1 cysteine-serine-rich nuclear protein 1
DISP1 dispatched homolog 1 (Drosophila)
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
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF2 forkhead box F2
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GSC goosecoid homeobox
HAND2 heart and neural crest derivatives expressed 2
HOXA2 homeobox A2
IRF6 interferon regulatory factor 6
LMO4 LIM domain only 4
LTBP1 latent transforming growth factor beta binding protein 1
LTBP3 latent transforming growth factor beta binding protein 3
MIR140 microRNA 140
MKS1 Meckel syndrome, type 1
MN1 meningioma (disrupted in balanced translocation) 1
NIPBL Nipped-B homolog (Drosophila)
NKX3-2 NK3 homeobox 2
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAX9 paired box 9
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PHC1 polyhomeotic homolog 1 (Drosophila)
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PRRX1 paired related homeobox 1
PTCH1 patched 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RUNX2 runt-related transcription factor 2
SCHIP1 schwannomin interacting protein 1
SCUBE1 signal peptide, CUB domain, EGF-like 1
SGPL1 sphingosine-1-phosphate lyase 1
SIM2 single-minded family bHLH transcription factor 2
SKI SKI proto-oncogene
SOX11 SRY (sex determining region Y)-box 11
SP3 Sp3 transcription factor
TBX1 T-box 1
TGFB2 transforming growth factor, beta 2
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM107 transmembrane protein 107
ZEB1 zinc finger E-box binding homeobox 1