large fontanelles Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. (Human Phenotype Ontology, HP_0000239)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000239
Similar Terms
Downloads & Tools

Genes

70 genes associated with the large fontanelles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACE angiotensin I converting enzyme
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ANTXR1 anthrax toxin receptor 1
ARX aristaless related homeobox
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GALTL beta 1,3-galactosyltransferase-like
BMPER BMP binding endothelial regulator
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CREBBP CREB binding protein
CRTAP cartilage associated protein
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DCHS1 dachsous cadherin-related 1
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GNPAT glyceronephosphate O-acyltransferase
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
INPPL1 inositol polyphosphate phosphatase-like 1
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIF7 kinesin family member 7
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MED12 mediator complex subunit 12
MSX2 msh homeobox 2
MVK mevalonate kinase
NSD1 nuclear receptor binding SET domain protein 1
P3H1 prolyl 3-hydroxylase 1
PAX8 paired box 8
PEX1 peroxisomal biogenesis factor 1
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX5 peroxisomal biogenesis factor 5
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PTDSS1 phosphatidylserine synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
RBM10 RNA binding motif protein 10
REN renin
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEC23A Sec23 homolog A (S. cerevisiae)
SETBP1 SET binding protein 1
SKI SKI proto-oncogene
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SOX9 SRY (sex determining region Y)-box 9
TSHB thyroid stimulating hormone, beta
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNT5A wingless-type MMTV integration site family, member 5A
ZMPSTE24 zinc metallopeptidase STE24