potter facies Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. (Human Phenotype Ontology, HP_0002009)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002009
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Genes

10 genes associated with the potter facies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
FGF20 fibroblast growth factor 20
ITGA8 integrin, alpha 8
NPHP3 nephronophthisis 3 (adolescent)
PAX2 paired box 2
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
REN renin
RET ret proto-oncogene