axillary freckling Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. (Human Phenotype Ontology, HP_0000997)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000997
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Genes

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

Symbol Name
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NF1 neurofibromin 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
SPRED1 sprouty-related, EVH1 domain containing 1