craniosynostosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A synostosis that results_in premature fusion located_in skull. (Human Disease Ontology, DOID_2340)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001363
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Genes

72 genes associated with the craniosynostosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALPL alkaline phosphatase, liver/bone/kidney
ALX4 ALX homeobox 4
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
B3GALTL beta 1,3-galactosyltransferase-like
BMP4 bone morphogenetic protein 4
CCBE1 collagen and calcium binding EGF domains 1
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CLCN7 chloride channel, voltage-sensitive 7
COL10A1 collagen, type X, alpha 1
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DMP1 dentin matrix acidic phosphoprotein 1
EFNB1 ephrin-B1
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
GLI3 GLI family zinc finger 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC6 glypican 6
HIRA histone cell cycle regulator
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT43 intraflagellar transport 43
IMPAD1 inositol monophosphatase domain containing 1
IRX5 iroquois homeobox 5
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
LRP5 low density lipoprotein receptor-related protein 5
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MSX2 msh homeobox 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
POR P450 (cytochrome) oxidoreductase
PTEN phosphatase and tensin homolog
RAB23 RAB23, member RAS oncogene family
RBBP8 retinoblastoma binding protein 8
RECQL4 RecQ protein-like 4
SCARF2 scavenger receptor class F, member 2
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SNX10 sorting nexin 10
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TBX1 T-box 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMCO1 transmembrane and coiled-coil domains 1
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TWIST1 twist family bHLH transcription factor 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35