bilateral microphthalmos Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A developmental anomaly characterized by abnormal smallness of both eyes. (Human Phenotype Ontology, HP_0007633)
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10 genes associated with the bilateral microphthalmos phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ERCC1 excision repair cross-complementation group 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GRIP1 glutamate receptor interacting protein 1
PTCH1 patched 1
SHH sonic hedgehog
STRA6 stimulated by retinoic acid 6
TCOF1 Treacher Collins-Franceschetti syndrome 1