buphthalmos Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_11211)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000557
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Genes

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

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATOH7 atonal homolog 7 (Drosophila)
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
FGFR2 fibroblast growth factor receptor 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
OCRL oculocerebrorenal syndrome of Lowe
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PTEN phosphatase and tensin homolog
PXDN peroxidasin
TWIST1 twist family bHLH transcription factor 1