skull defect Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. (Human Phenotype Ontology, HP_0001362)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001362
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Genes

18 genes associated with the skull defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALX4 ALX homeobox 4
ARHGAP31 Rho GTPase activating protein 31
BMS1 BMS1 ribosome biogenesis factor
COL18A1 collagen, type XVIII, alpha 1
DOCK6 dedicator of cytokinesis 6
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GRIP1 glutamate receptor interacting protein 1
HSPG2 heparan sulfate proteoglycan 2
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
NELFA negative elongation factor complex member A
NOTCH1 notch 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
UBR1 ubiquitin protein ligase E3 component n-recognin 1
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT7A wingless-type MMTV integration site family, member 7A