Macrodactyly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. (Human Phenotype Ontology, HP_0004099)
External Link https://www.disgenet.org/browser/0/1/0/C0158763
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Genes

1 genes associated with the disease Macrodactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha