abnormality of the fontanelles or cranial sutures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ). (Human Phenotype Ontology, HP_0000235)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000235
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Genes

221 genes associated with the abnormality of the fontanelles or 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
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
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
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
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
ARX aristaless related homeobox
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
BANF1 barrier to autointegration factor 1
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CDC6 cell division cycle 6
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
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
COL11A2 collagen, type XI, alpha 2
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
CTSD cathepsin D
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
DSE dermatan sulfate epimerase
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
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
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FOXE1 forkhead box E1
FOXG1 forkhead box G1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GCDH glutaryl-CoA dehydrogenase
GCK glucokinase (hexokinase 4)
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
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)
HESX1 HESX homeobox 1
HIRA histone cell cycle regulator
HNF1B HNF1 homeobox B
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
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
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
IRX5 iroquois homeobox 5
IYD iodotyrosine deiodinase
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
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
MVK mevalonate kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
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
PAX8 paired box 8
PCNT pericentrin
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POR P450 (cytochrome) oxidoreductase
POU1F1 POU class 1 homeobox 1
PPIB peptidylprolyl isomerase B (cyclophilin B)
PRDM16 PR domain containing 16
PROP1 PROP paired-like homeobox 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PYCR1 pyrroline-5-carboxylate reductase 1
RAB23 RAB23, member RAS oncogene family
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RECQL4 RecQ protein-like 4
REN renin
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
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
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SNX10 sorting nexin 10
SOX9 SRY (sex determining region Y)-box 9
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
TG thyroglobulin
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMCO1 transmembrane and coiled-coil domains 1
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNXB tenascin XB
TPO thyroid peroxidase
TRHR thyrotropin-releasing hormone receptor
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TWIST1 twist family bHLH transcription factor 1
UBR1 ubiquitin protein ligase E3 component n-recognin 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
WNT5A wingless-type MMTV integration site family, member 5A
ZMPSTE24 zinc metallopeptidase STE24