small cranium Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced size of the cranium (Mammalian Phenotype Ontology, MP_0005352)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005352
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Genes

24 gene mutations causing the small cranium phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BMP5 bone morphogenetic protein 5
CENPJ centromere protein J
CHUK conserved helix-loop-helix ubiquitous kinase
CLCN7 chloride channel, voltage-sensitive 7
COL2A1 collagen, type II, alpha 1
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
EYA1 EYA transcriptional coactivator and phosphatase 1
FGFR1 fibroblast growth factor receptor 1
GJA1 gap junction protein, alpha 1, 43kDa
GTF2IRD1 GTF2I repeat domain containing 1
IFT80 intraflagellar transport 80
LMNA lamin A/C
LRP6 low density lipoprotein receptor-related protein 6
MED31 mediator complex subunit 31
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MNT MAX network transcriptional repressor
NPR2 natriuretic peptide receptor 2
OTX2 orthodenticle homeobox 2
PAPPA2 pappalysin 2
PHEX phosphate regulating endopeptidase homolog, X-linked
POSTN periostin, osteoblast specific factor
PTPN11 protein tyrosine phosphatase, non-receptor type 11