macrodactyly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0004099
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Genes

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

Symbol Name
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTEN phosphatase and tensin homolog
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2