abnormal intramembranous bone ossification Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, perietal, occipital, and temporal bones, and the clavicles) are formed. (Human Phenotype Ontology, HP_0012790)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008273
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38 gene mutations causing the abnormal intramembranous bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
AMER1 APC membrane recruitment protein 1
APAF1 apoptotic peptidase activating factor 1
AXIN2 axin 2
CENPJ centromere protein J
DLX5 distal-less homeobox 5
DUSP6 dual specificity phosphatase 6
ERF Ets2 repressor factor
FGF18 fibroblast growth factor 18
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FOXC1 forkhead box C1
FREM1 FRAS1 related extracellular matrix 1
FUZ fuzzy planar cell polarity protein
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
LRP6 low density lipoprotein receptor-related protein 6
NIPBL Nipped-B homolog (Drosophila)
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDS5A PDS5 cohesin associated factor A
PKD1 polycystic kidney disease 1 (autosomal dominant)
PTCH1 patched 1
RUNX2 runt-related transcription factor 2
SIK3 SIK family kinase 3
SP3 Sp3 transcription factor
STAG1 stromal antigen 1
SUCO SUN domain containing ossification factor
TBX22 T-box 22
TGFBR1 transforming growth factor, beta receptor 1
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM107 transmembrane protein 107
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1