abnormality of cranial sutures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. (Human Phenotype Ontology, HP_0011329)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011329
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Genes

149 genes associated with the abnormality of cranial sutures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACE angiotensin I converting enzyme
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADSL adenylosuccinate lyase
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALPL alkaline phosphatase, liver/bone/kidney
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
ANTXR1 anthrax toxin receptor 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
B3GALTL beta 1,3-galactosyltransferase-like
BANF1 barrier to autointegration factor 1
BMP1 bone morphogenetic protein 1
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
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCN7 chloride channel, voltage-sensitive 7
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CRTAP cartilage associated protein
CTSK cathepsin K
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DCHS1 dachsous cadherin-related 1
DMP1 dentin matrix acidic phosphoprotein 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FOXG1 forkhead box G1
GCK glucokinase (hexokinase 4)
GLI3 GLI family zinc finger 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GORAB golgin, RAB6-interacting
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC6 glypican 6
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HIRA histone cell cycle regulator
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
IFITM5 interferon induced transmembrane protein 5
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT43 intraflagellar transport 43
IMPAD1 inositol monophosphatase domain containing 1
INS insulin
IRX5 iroquois homeobox 5
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KIF1A kinesin family member 1A
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MED12 mediator complex subunit 12
MMP2 matrix metallopeptidase 2
MSX2 msh homeobox 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOTCH2 notch 2
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
P3H1 prolyl 3-hydroxylase 1
PCNT pericentrin
PEX1 peroxisomal biogenesis factor 1
PEX14 peroxisomal biogenesis factor 14
PEX19 peroxisomal biogenesis factor 19
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POR P450 (cytochrome) oxidoreductase
POU1F1 POU class 1 homeobox 1
PPIB peptidylprolyl isomerase B (cyclophilin B)
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
RAB23 RAB23, member RAS oncogene family
RBBP8 retinoblastoma binding protein 8
RECQL4 RecQ protein-like 4
REN renin
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SC5D sterol-C5-desaturase
SCARF2 scavenger receptor class F, member 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SEC23A Sec23 homolog A (S. cerevisiae)
SETBP1 SET binding protein 1
SH3PXD2B SH3 and PX domains 2B
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SNX10 sorting nexin 10
SP7 Sp7 transcription factor
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TBCE tubulin folding cofactor E
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
TNXB tenascin XB
TWIST1 twist family bHLH transcription factor 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNK1 WNK lysine deficient protein kinase 1
ZMPSTE24 zinc metallopeptidase STE24