exophthalmos Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. (Human Disease Ontology, DOID_9370)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002750
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Genes

13 gene mutations causing the exophthalmos phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
DDR2 discoidin domain receptor tyrosine kinase 2
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FOXF2 forkhead box F2
ITGB1BP1 integrin beta 1 binding protein 1
LHFPL2 lipoma HMGIC fusion partner-like 2
LMNA lamin A/C
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
PDCD1 programmed cell death 1
SH3PXD2B SH3 and PX domains 2B
TOM1L2 target of myb1-like 2 (chicken)