abnormal cranium size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation from the average range of cranium size compared to normal (Mammalian Phenotype Ontology, MP_0010031)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010031
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63 gene mutations causing the abnormal cranium size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
AMER1 APC membrane recruitment protein 1
ANKRD11 ankyrin repeat domain 11
ARSB arylsulfatase B
AXIN2 axin 2
BMP5 bone morphogenetic protein 5
CENPJ centromere protein J
CHD7 chromodomain helicase DNA binding protein 7
CHUK conserved helix-loop-helix ubiquitous kinase
CLCN7 chloride channel, voltage-sensitive 7
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DDR2 discoidin domain receptor tyrosine kinase 2
DNAH5 dynein, axonemal, heavy chain 5
DYM dymeclin
EDA ectodysplasin A
EFNB1 ephrin-B1
EIF4H eukaryotic translation initiation factor 4H
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GTF2IRD1 GTF2I repeat domain containing 1
HSPG2 heparan sulfate proteoglycan 2
HYDIN HYDIN, axonemal central pair apparatus protein
IDS iduronate 2-sulfatase
IFT80 intraflagellar transport 80
JAM3 junctional adhesion molecule 3
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LMNA lamin A/C
LRP6 low density lipoprotein receptor-related protein 6
MED31 mediator complex subunit 31
MIR140 microRNA 140
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MNT MAX network transcriptional repressor
NOV nephroblastoma overexpressed
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
OTX2 orthodenticle homeobox 2
PAPPA2 pappalysin 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PC pyruvate carboxylase
PHEX phosphate regulating endopeptidase homolog, X-linked
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
POSTN periostin, osteoblast specific factor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SH3PXD2B SH3 and PX domains 2B
SLX4 SLX4 structure-specific endonuclease subunit
SOS1 son of sevenless homolog 1 (Drosophila)
SOSTDC1 sclerostin domain containing 1
SUMF1 sulfatase modifying factor 1
TBX15 T-box 15
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11