domed cranium Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description increased curvature to the hemispherical shape of the upper cranial case (Mammalian Phenotype Ontology, MP_0000440)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000440
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Genes

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

Symbol Name
ANKRD11 ankyrin repeat domain 11
ARL6 ADP-ribosylation factor-like 6
ATXN1L ataxin 1-like
CDON cell adhesion associated, oncogene regulated
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CTGF connective tissue growth factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DLG1 discs, large homolog 1 (Drosophila)
DNAH5 dynein, axonemal, heavy chain 5
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DSCAM Down syndrome cell adhesion molecule
DYX1C1 dyslexia susceptibility 1 candidate 1
EDA ectodysplasin A
ERF Ets2 repressor factor
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FKRP fukutin related protein
FOS FBJ murine osteosarcoma viral oncogene homolog
GTF2IRD1 GTF2I repeat domain containing 1
HDAC4 histone deacetylase 4
HSPG2 heparan sulfate proteoglycan 2
HTT huntingtin
HYDIN HYDIN, axonemal central pair apparatus protein
IHH indian hedgehog
ITGB1BP1 integrin beta 1 binding protein 1
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LTBP3 latent transforming growth factor beta binding protein 3
MBOAT7 membrane bound O-acyltransferase domain containing 7
MIR140 microRNA 140
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MYH10 myosin, heavy chain 10, non-muscle
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NEK1 NIMA-related kinase 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NME5 NME/NM23 family member 5
NME7 NME/NM23 family member 7
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PFAS phosphoribosylformylglycinamidine synthase
PHEX phosphate regulating endopeptidase homolog, X-linked
PKD1 polycystic kidney disease 1 (autosomal dominant)
PSIP1 PC4 and SFRS1 interacting protein 1
PTCH1 patched 1
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN9 protein tyrosine phosphatase, non-receptor type 9
PYGO2 pygopus family PHD finger 2
RND3 Rho family GTPase 3
RYR1 ryanodine receptor 1 (skeletal)
SH3PXD2B SH3 and PX domains 2B
SLX4 SLX4 structure-specific endonuclease subunit
STK36 serine/threonine kinase 36
TCOF1 Treacher Collins-Franceschetti syndrome 1
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TP53BP2 tumor protein p53 binding protein 2
TP73 tumor protein p73
TRIP11 thyroid hormone receptor interactor 11
TYRP1 tyrosinase-related protein 1