abnormal cranium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the bones of the head (Mammalian Phenotype Ontology, MP_0000438)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000438
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACAN aggrecan
ACVR2A activin A receptor, type IIA
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALPL alkaline phosphatase, liver/bone/kidney
ALX1 ALX homeobox 1
ALX4 ALX homeobox 4
AMBN ameloblastin (enamel matrix protein)
AMELY amelogenin, Y-linked
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANO6 anoctamin 6
ANTXR1 anthrax toxin receptor 1
ANXA1 annexin A1
AP2B1 adaptor-related protein complex 2, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APC adenomatous polyposis coli
ARID5B AT rich interactive domain 5B (MRF1-like)
ARL6 ADP-ribosylation factor-like 6
ARSB arylsulfatase B
ASXL1 additional sex combs like transcriptional regulator 1
ATF4 activating transcription factor 4
ATMIN ATM interactor
ATR ATR serine/threonine kinase
ATXN1L ataxin 1-like
AXIN2 axin 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BNC2 basonuclin 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD4 bromodomain containing 4
C10ORF120 chromosome 10 open reading frame 120
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CBX2 chromobox homolog 2
CCDC39 coiled-coil domain containing 39
CCND1 cyclin D1
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDO1 cysteine dioxygenase type 1
CDON cell adhesion associated, oncogene regulated
CDX1 caudal type homeobox 1
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CENPJ centromere protein J
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHUK conserved helix-loop-helix ubiquitous kinase
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCN7 chloride channel, voltage-sensitive 7
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL27A1 collagen, type XXVII, 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)
CSF1R colony stimulating factor 1 receptor
CSRNP1 cysteine-serine-rich nuclear protein 1
CSRP2BP CSRP2 binding protein
CTGF connective tissue growth factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
CTSK cathepsin K
CYCS cytochrome c, somatic
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DAAM2 dishevelled associated activator of morphogenesis 2
DCTN5 dynactin 5 (p25)
DDR1 discoidin domain receptor tyrosine kinase 1
DDR2 discoidin domain receptor tyrosine kinase 2
DHRS3 dehydrogenase/reductase (SDR family) member 3
DIAPH1 diaphanous-related formin 1
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLG1 discs, large homolog 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMP1 dentin matrix acidic phosphoprotein 1
DMRT2 doublesex and mab-3 related transcription factor 2
DMRT3 doublesex and mab-3 related transcription factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNASE1L2 deoxyribonuclease I-like 2
DNM3OS DNM3 opposite strand/antisense RNA
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DRC1 dynein regulatory complex subunit 1
DSCAM Down syndrome cell adhesion molecule
DUSP6 dual specificity phosphatase 6
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYX1C1 dyslexia susceptibility 1 candidate 1
E2F4 E2F transcription factor 4, p107/p130-binding
E2F5 E2F transcription factor 5, p130-binding
ECE1 endothelin converting enzyme 1
EDA ectodysplasin A
EDN1 endothelin 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EGFR epidermal growth factor receptor
EGR2 early growth response 2
EHD1 EH-domain containing 1
EIF4H eukaryotic translation initiation factor 4H
ERF Ets2 repressor factor
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOC3L2 exocyst complex component 3-like 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM20C family with sequence similarity 20, member C
FANCA Fanconi anemia, complementation group A
FBLN1 fibulin 1
FBN1 fibrillin 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
FIGN fidgetin
FKRP fukutin related protein
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXA2 forkhead box A2
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF2 forkhead box F2
FOXG1 forkhead box G1
FOXI1 forkhead box I1
FOXI3 forkhead box I3
FREM1 FRAS1 related extracellular matrix 1
FUZ fuzzy planar cell polarity protein
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GAS1 growth arrest-specific 1
GBX2 gastrulation brain homeobox 2
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GLG1 golgi glycoprotein 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GRB2 growth factor receptor-bound protein 2
GRHL2 grainyhead-like 2 (Drosophila)
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
HAPLN1 hyaluronan and proteoglycan link protein 1
HAT1 histone acetyltransferase 1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HFM Hemifacial microsomia
HHAT hedgehog acyltransferase
HIC1 hypermethylated in cancer 1
HMX1 H6 family homeobox 1
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXD1 homeobox D1
HOXD3 homeobox D3
HOXD4 homeobox D4
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB11 heat shock protein family B (small), member 11
HSPG2 heparan sulfate proteoglycan 2
HTT huntingtin
HYAL2 hyaluronoglucosaminidase 2
HYDIN HYDIN, axonemal central pair apparatus protein
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFNG interferon, gamma
IFT27 intraflagellar transport 27
IFT57 intraflagellar transport 57
IFT80 intraflagellar transport 80
IFT88 intraflagellar transport 88
IHH indian hedgehog
IL10 interleukin 10
IL12B interleukin 12B
IL4 interleukin 4
INHBA inhibin, beta A
IRF6 interferon regulatory factor 6
ISL1 ISL LIM homeobox 1
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB1BP1 integrin beta 1 binding protein 1
JAG2 jagged 2
JAM3 junctional adhesion molecule 3
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM4B lysine (K)-specific demethylase 4B
KDM6A lysine (K)-specific demethylase 6A
KIF14 kinesin family member 14
KLF2 Kruppel-like factor 2
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LAMA5 laminin, alpha 5
LEF1 lymphoid enhancer-binding factor 1
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LMNA lamin A/C
LMNB1 lamin B1
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LMX1B LIM homeobox transcription factor 1, beta
LPAR4 lysophosphatidic acid receptor 4
LRP2 low density lipoprotein receptor-related protein 2
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
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MARCKS myristoylated alanine-rich protein kinase C substrate
MAST4 microtubule associated serine/threonine kinase family member 4
MBOAT7 membrane bound O-acyltransferase domain containing 7
MBTD1 mbt domain containing 1
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MED31 mediator complex subunit 31
MIR140 microRNA 140
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MMP2 matrix metallopeptidase 2
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
MYH10 myosin, heavy chain 10, non-muscle
MYSM1 Myb-like, SWIRM and MPN domains 1
NABP2 nucleic acid binding protein 2
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEK1 NIMA-related kinase 1
NELL1 NEL-like 1 (chicken)
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKD1 naked cuticle homolog 1 (Drosophila)
NKX3-2 NK3 homeobox 2
NME5 NME/NM23 family member 5
NME7 NME/NM23 family member 7
NOG noggin
NOV nephroblastoma overexpressed
NPHP3 nephronophthisis 3 (adolescent)
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NXN nucleoredoxin
OSTM1 osteopetrosis associated transmembrane protein 1
OTULIN OTU deubiquitinase with linear linkage specificity
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAK1IP1 PAK1 interacting protein 1
PAPPA2 pappalysin 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX1 paired box 1
PAX6 paired box 6
PAX7 paired box 7
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PC pyruvate carboxylase
PCGF2 polycomb group ring finger 2
PCSK6 proprotein convertase subtilisin/kexin type 6
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDPK1 3-phosphoinositide dependent protein kinase 1
PDS5B PDS5 cohesin associated factor B
PEX11B peroxisomal biogenesis factor 11 beta
PEX2 peroxisomal biogenesis factor 2
PFAS phosphoribosylformylglycinamidine synthase
PGAP1 post-GPI attachment to proteins 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF20 PHD finger protein 20
PITX1 paired-like homeodomain 1
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
POSTN periostin, osteoblast specific factor
POU3F3 POU class 3 homeobox 3
POU3F4 POU class 3 homeobox 4
PPT1 palmitoyl-protein thioesterase 1
PRDM16 PR domain containing 16
PRICKLE1 prickle homolog 1 (Drosophila)
PRKG2 protein kinase, cGMP-dependent, type II
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
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN9 protein tyrosine phosphatase, non-receptor type 9
PYGO2 pygopus family PHD finger 2
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
RGMA repulsive guidance molecule family member a
RND3 Rho family GTPase 3
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPL38 ribosomal protein L38
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCHIP1 schwannomin interacting protein 1
SCUBE1 signal peptide, CUB domain, EGF-like 1
SETD5 SET domain containing 5
SFN stratifin
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
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLX4 SLX4 structure-specific endonuclease subunit
SMAD2 SMAD family member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMC3 structural maintenance of chromosomes 3
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOCS7 suppressor of cytokine signaling 7
SOS1 son of sevenless homolog 1 (Drosophila)
SOSTDC1 sclerostin domain containing 1
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SOX9 SRY (sex determining region Y)-box 9
SP3 Sp3 transcription factor
SPEF2 sperm flagellar 2
SPRY4 sprouty homolog 4 (Drosophila)
SRA1 steroid receptor RNA activator 1
SSBP3 single stranded DNA binding protein 3
STK36 serine/threonine kinase 36
SUCO SUN domain containing ossification factor
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
TACC3 transforming, acidic coiled-coil containing protein 3
TBX1 T-box 1
TBX15 T-box 15
TBX18 T-box 18
TBX22 T-box 22
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)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGIF1 TGFB-induced factor homeobox 1
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TMEM107 transmembrane protein 107
TMEM67 transmembrane protein 67
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOM1L2 target of myb1-like 2 (chicken)
TP53BP2 tumor protein p53 binding protein 2
TP63 tumor protein p63
TP73 tumor protein p73
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TSHZ1 teashirt zinc finger homeobox 1
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
TYRP1 tyrosinase-related protein 1
UBE3B ubiquitin protein ligase E3B
VEGFA vascular endothelial growth factor A
WDR19 WD repeat domain 19
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT1 wingless-type MMTV integration site family, member 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT9A wingless-type MMTV integration site family, member 9A
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
XYLT1 xylosyltransferase I
YBX1 Y box binding protein 1
ZEB1 zinc finger E-box binding homeobox 1
ZFAND5 zinc finger, AN1-type domain 5
ZIC3 Zic family member 3
ZIC5 Zic family member 5
ZMPSTE24 zinc metallopeptidase STE24
ZNF521 zinc finger protein 521