abnormal occipital bone morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the bone at the lower, posterior part of the skull (Mammalian Phenotype Ontology, MP_0005269)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005269
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65 gene mutations causing the abnormal occipital 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
APAF1 apoptotic peptidase activating factor 1
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CBX2 chromobox homolog 2
CDX1 caudal type homeobox 1
CENPJ centromere protein J
CHRD chordin
DISP1 dispatched homolog 1 (Drosophila)
DLX5 distal-less homeobox 5
DMRT2 doublesex and mab-3 related transcription factor 2
EVC Ellis van Creveld protein
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
GBX2 gastrulation brain homeobox 2
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GTF2IRD1 GTF2I repeat domain containing 1
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HHAT hedgehog acyltransferase
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXD1 homeobox D1
HOXD3 homeobox D3
HOXD4 homeobox D4
IDUA iduronidase, alpha-L-
KAT6B K(lysine) acetyltransferase 6B
LMX1B LIM homeobox transcription factor 1, beta
LTBP1 latent transforming growth factor beta binding protein 1
LTBP3 latent transforming growth factor beta binding protein 3
MBTD1 mbt domain containing 1
MKS1 Meckel syndrome, type 1
MN1 meningioma (disrupted in balanced translocation) 1
MNT MAX network transcriptional repressor
MSX2 msh homeobox 2
NKX3-2 NK3 homeobox 2
NOG noggin
NPR2 natriuretic peptide receptor 2
PCGF2 polycomb group ring finger 2
PHC1 polyhomeotic homolog 1 (Drosophila)
PRRX1 paired related homeobox 1
PSEN1 presenilin 1
PSIP1 PC4 and SFRS1 interacting protein 1
PTH1R parathyroid hormone 1 receptor
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RUNX2 runt-related transcription factor 2
SCUBE1 signal peptide, CUB domain, EGF-like 1
SHH sonic hedgehog
SKI SKI proto-oncogene
SP3 Sp3 transcription factor
TBX1 T-box 1
TBX15 T-box 15
TBX18 T-box 18
TCF15 transcription factor 15 (basic helix-loop-helix)
TGFB2 transforming growth factor, beta 2
TMEM107 transmembrane protein 107
TSHZ1 teashirt zinc finger homeobox 1
WDR19 WD repeat domain 19
WNT9A wingless-type MMTV integration site family, member 9A