abnormal neurocranium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the bones of the skull enclosing the brain (Mammalian Phenotype Ontology, MP_0000074)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000074
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Genes

190 gene mutations causing the abnormal neurocranium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALPL alkaline phosphatase, liver/bone/kidney
ALX1 ALX homeobox 1
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANXA1 annexin A1
APAF1 apoptotic peptidase activating factor 1
ARID5B AT rich interactive domain 5B (MRF1-like)
ATF4 activating transcription factor 4
ATR ATR serine/threonine kinase
AXIN2 axin 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BNC2 basonuclin 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CBFB core-binding factor, beta subunit
CBX2 chromobox homolog 2
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDON cell adhesion associated, oncogene regulated
CDX1 caudal type homeobox 1
CENPJ centromere protein J
CHRD chordin
CHUK conserved helix-loop-helix ubiquitous kinase
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSF1 colony stimulating factor 1 (macrophage)
CSRNP1 cysteine-serine-rich nuclear protein 1
CTSK cathepsin K
DDR2 discoidin domain receptor tyrosine kinase 2
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMRT2 doublesex and mab-3 related transcription factor 2
DNM3OS DNM3 opposite strand/antisense RNA
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
E2F5 E2F transcription factor 5, p130-binding
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
EFNB1 ephrin-B1
EVC Ellis van Creveld protein
EYA1 EYA transcriptional coactivator and phosphatase 1
FBLN1 fibulin 1
FGF18 fibroblast growth factor 18
FGF9 fibroblast growth factor 9
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
FKRP fukutin related protein
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF2 forkhead box F2
FOXI1 forkhead box I1
FOXI3 forkhead box I3
GAS1 growth arrest-specific 1
GBX2 gastrulation brain homeobox 2
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GSC goosecoid homeobox
GSK3A glycogen synthase kinase 3 alpha
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HAND2 heart and neural crest derivatives expressed 2
HDAC8 histone deacetylase 8
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HHAT hedgehog acyltransferase
HMX1 H6 family homeobox 1
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXD1 homeobox D1
HOXD3 homeobox D3
HOXD4 homeobox D4
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HYDIN HYDIN, axonemal central pair apparatus protein
IDUA iduronidase, alpha-L-
IRF6 interferon regulatory factor 6
ISL1 ISL LIM homeobox 1
ITGB1BP1 integrin beta 1 binding protein 1
KAT6B K(lysine) acetyltransferase 6B
LAMA5 laminin, alpha 5
LMNA lamin A/C
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LMX1B LIM homeobox transcription factor 1, beta
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LTBP1 latent transforming growth factor beta binding protein 1
LTBP3 latent transforming growth factor beta binding protein 3
MBTD1 mbt domain containing 1
MIR140 microRNA 140
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MN1 meningioma (disrupted in balanced translocation) 1
MNT MAX network transcriptional repressor
MSI1 musashi RNA-binding protein 1
MSX1 msh homeobox 1
MSX2 msh homeobox 2
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NELL1 NEL-like 1 (chicken)
NIPBL Nipped-B homolog (Drosophila)
NKX3-2 NK3 homeobox 2
NOG noggin
NPR2 natriuretic peptide receptor 2
NXN nucleoredoxin
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PCGF2 polycomb group ring finger 2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PEX11B peroxisomal biogenesis factor 11 beta
PEX2 peroxisomal biogenesis factor 2
PHC1 polyhomeotic homolog 1 (Drosophila)
PHEX phosphate regulating endopeptidase homolog, X-linked
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
POU3F3 POU class 3 homeobox 3
POU3F4 POU class 3 homeobox 4
PPT1 palmitoyl-protein thioesterase 1
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRX1 paired related homeobox 1
PSEN1 presenilin 1
PSIP1 PC4 and SFRS1 interacting protein 1
PTCH1 patched 1
PTH1R parathyroid hormone 1 receptor
PTPN9 protein tyrosine phosphatase, non-receptor type 9
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCHIP1 schwannomin interacting protein 1
SCUBE1 signal peptide, CUB domain, EGF-like 1
SGPL1 sphingosine-1-phosphate lyase 1
SGSH N-sulfoglucosamine sulfohydrolase
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SHROOM3 shroom family member 3
SIK3 SIK family kinase 3
SIM2 single-minded family bHLH transcription factor 2
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SP3 Sp3 transcription factor
SPEF2 sperm flagellar 2
SUCO SUN domain containing ossification factor
TACC3 transforming, acidic coiled-coil containing protein 3
TBX1 T-box 1
TBX15 T-box 15
TBX18 T-box 18
TCF15 transcription factor 15 (basic helix-loop-helix)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFB2 transforming growth factor, beta 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM107 transmembrane protein 107
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TSHZ1 teashirt zinc finger homeobox 1
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
WDR19 WD repeat domain 19
WNT1 wingless-type MMTV integration site family, member 1
WNT9A wingless-type MMTV integration site family, member 9A
ZEB1 zinc finger E-box binding homeobox 1
ZFAND5 zinc finger, AN1-type domain 5
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24