prominent fingertip pads Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A soft tissue prominence of the ventral aspects of the fingertips. The term persistent fetal fingertip pads is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. (Human Phenotype Ontology, HP_0001212)
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6 genes associated with the prominent fingertip pads phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CREBBP CREB binding protein
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
KANSL1 KAT8 regulatory NSL complex subunit 1
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
MED12 mediator complex subunit 12