macroorchidism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of abnormally large testes. (Human Phenotype Ontology, HP_0000053)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000053
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Genes

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

Symbol Name
AGA aspartylglucosaminidase
AKT1 v-akt murine thymoma viral oncogene homolog 1
CLIC2 chloride intracellular channel 2
FMR1 fragile X mental retardation 1
GNAS GNAS complex locus
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
LHCGR luteinizing hormone/choriogonadotropin receptor
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
NF1 neurofibromin 1
PTEN phosphatase and tensin homolog
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
ZDHHC9 zinc finger, DHHC-type containing 9