abnormality of the anterior fontanelle Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. (Human Phenotype Ontology, HP_0000236)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000236
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47 genes associated with the abnormality of the anterior fontanelle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
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
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
CTSK cathepsin K
DCHS1 dachsous cadherin-related 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
FAT4 FAT atypical cadherin 4
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
HRAS Harvey rat sarcoma viral oncogene homolog
KIF7 kinesin family member 7
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
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
ORC1 origin recognition complex, subunit 1
P3H1 prolyl 3-hydroxylase 1
PEX14 peroxisomal biogenesis factor 14
PEX19 peroxisomal biogenesis factor 19
PIEZO2 piezo-type mechanosensitive ion channel component 2
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)
SKI SKI proto-oncogene
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
WNT5A wingless-type MMTV integration site family, member 5A