abnormality of fontanelles Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the fontanelle. (Human Phenotype Ontology, HP_0011328)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011328
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Genes

87 genes associated with the abnormality of 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
ASPA aspartoacylase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
B3GALTL beta 1,3-galactosyltransferase-like
BANF1 barrier to autointegration factor 1
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
CTSD cathepsin D
CTSK cathepsin K
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DCHS1 dachsous cadherin-related 1
ERCC1 excision repair cross-complementation group 1
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
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
MMP2 matrix metallopeptidase 2
MSX2 msh homeobox 2
MVK mevalonate kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NSD1 nuclear receptor binding SET domain protein 1
ORC1 origin recognition complex, subunit 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
PEX19 peroxisomal biogenesis factor 19
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
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 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
TBCE tubulin folding cofactor E
TSHB thyroid stimulating hormone, beta
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNT5A wingless-type MMTV integration site family, member 5A
ZMPSTE24 zinc metallopeptidase STE24