platybasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. (Human Phenotype Ontology, HP_0002691)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002691
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Genes

2 genes associated with the platybasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2