aplasia cutis congenita Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. (Human Phenotype Ontology, HP_0001057)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001057
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Genes

10 genes associated with the aplasia cutis congenita 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
COX7B cytochrome c oxidase subunit VIIb
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
MSX2 msh homeobox 2
NOTCH1 notch 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
UBR1 ubiquitin protein ligase E3 component n-recognin 1