abnormal basicranium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones (Mammalian Phenotype Ontology, MP_0010029)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010029
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60 gene mutations causing the abnormal basicranium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ANKH ANKH inorganic pyrophosphate transport regulator
APAF1 apoptotic peptidase activating factor 1
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDON cell adhesion associated, oncogene regulated
CDX1 caudal type homeobox 1
CHRD chordin
COL2A1 collagen, type II, alpha 1
DISP1 dispatched homolog 1 (Drosophila)
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
EDNRA endothelin receptor type A
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GSC goosecoid homeobox
HAPLN1 hyaluronan and proteoglycan link protein 1
HHAT hedgehog acyltransferase
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXD4 homeobox D4
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
LTBP1 latent transforming growth factor beta binding protein 1
LTBP3 latent transforming growth factor beta binding protein 3
MIR140 microRNA 140
MN1 meningioma (disrupted in balanced translocation) 1
NKX3-2 NK3 homeobox 2
NOG noggin
NPR2 natriuretic peptide receptor 2
OTX2 orthodenticle homeobox 2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PSEN1 presenilin 1
PTCH1 patched 1
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RUNX2 runt-related transcription factor 2
SH3PXD2B SH3 and PX domains 2B
SKI SKI proto-oncogene
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SP3 Sp3 transcription factor
TBX1 T-box 1
TBX15 T-box 15
TCF15 transcription factor 15 (basic helix-loop-helix)
TMEM107 transmembrane protein 107
WNT9A wingless-type MMTV integration site family, member 9A
ZEB1 zinc finger E-box binding homeobox 1